• Left ventricular out flow tract

obstruction (DD)

By Dr_ Mona Sallam

 Anatomy of LVOT

The left ventricular outflow tract is
considered to be that region of the
left ventricle Lies between the
anterior cusp of the mitral valve
and the ventricular septum
this outflow tract has been called
the aortic vestibule, And the sub
aortic, subvalvar, or subvalvular
region By different workers.
Outflow tract is a complex
musculomembranous Channel or tunnel
which has a length of about 25 mm In the
adult heart: its length does, however, show
Considerable variation in different hearts.
it must be emphasized that there Is no line
of demarcation on its anterior Wall to
indicate the lower border of the tract. This
Is indicated on its posterior wall by the free
lower Border of the anterior cusp of the
mitral valve( a Uniquely important
structure in cardiac anatomy).
Left ventricular outflow tract
obstructions (LVOTOs) encompass a
series of stenotic lesions starting in
the anatomic left ventricular outflow
tract (LVOT) and stretching to the
descending portion of the aortic arch .
 Obstruction may be subvalvular, valvular ,
or supravalvar.
 All of these lesions impose increased after load
on the left ventricle and, if severe and untreated,
result in hypertrophy and eventual dilatation and
failure of the left ventricle.
 LVOTOs are congenital in the vast majority of
individuals younger than 50 years; some
variants of sub aortic obstruction are the
exception.
 . It is imperative to consider all patients with
LVOTO at a high risk for developing infective
endocarditic, and one should always institute
appropriate measures for prophylaxis.
 Figure 1. Artist’s

 rendering of the LVOTO lesions in sequence as viewed

from a super lateral orientation. A, Gradient echo cardiac MR image
as viewed from the frontal projection demonistrating flow acceleration at site
of supravalvular aortic Stenosis (white arrow)
  

• . B, Classic radiological signs of coarctation of the

aorta: rib notching (white arrows) as seen on a
poster anterior chest x-ray in a patient with
coarctation of the aorta. The rib notching is caused
by erosion of the inferior rib margins by dilated
pulsatile posterior intercostals collateral arteries.
The black arrow points to the Figure 3 silhouette
that is created by the combination of a dilated left
subclavian artery above and a convex dilated
descending aorta below the site of coarctation.
 C, Three-dimensional reconstruction of a cardiac CT angiogram as
viewed from the postero anterior projection,
demonstrating a plethora of dilated intercostals collateral arteries
in a patient with coarctation of the aorta. .
 D, Continuous-wave Doppler signal through the site of coarctation with
a systolic flow velocity of 3.4 m/s (Syst) and a peak pressure gradient of 46 mm
Hg.
Horizontal arrows point to the peak of the systolic velocity profile.
The vertical arrows point to the "diastolic tail,“
a diastolic pressure gradient at the site of coarctation leading to nearly
continuous flow, indicating significant coarctation of the aorta.
 E, Autopsy specimen of a calcified and steno tic bicuspid aortic valve.
The white arrow points to the false raphe.
There is fusion of the left and right coronary cusps.
• Obstruction to LVOT is localized most
commonly to aortic valve . However
obstruction may also occur above the
valve (supravalvular stenosis ) or below
the valve (subvalvular stenosis ) or may be
caused by hypertrophic cardiomyopathy
(HCM ).
 Valvular (obstruction )aortic
stenosis
• Most commonly, aortic stenosis is due to age-
related progressive calcification of the normal
trileaflet valve, being responsible for more than
50% of cases.Other causes include calcification
of a congenital bicuspid aortic valve (30-40% of
cases) and rheumatic aortic stenosis (less than
10% of cases). Typically, aortic stenosis due to
calcification of a bicuspid valve manifests when
individuals reach their 40s and 50s, whereas
that due to calcification of a normal valve tends
to manifest later, in the 70s and 80s.
Hypertension, diabetes mellitus,
hyperlipoproteinemia and uremia may speed up
the process.
 Age related calcific aortic
C a lc
i um stenosis
lines depo
of va sits a
lve le t fus
aflet ion

It should be differentiated from age

related sclerosis which is defined as
irregular thickening of aortic valve
leaflets detected by echocardiography
without significant obstruction .
 Although normal tear and wear of valve
leaflet is thought to manifest as senile
degeneration , the evolving concept is
that Atherosclerosis may contribute to
pathophysiology of calcific stenosis.

• Calcific stenosis share the traditional risk

factors of atherosclerosis (smoking ,
hypertension,hyperlipeidemia ,..etc )and
also carries 50%risk of myocardial deaths
and myocardial infarction.
 Bicuspid Aortic Valve
• BAV is one of the most common
congenital cardiovascular malformations,
with an estimated incidence of 1% to 2%.

• BAV is sometimes inherited, and family

clusters have been studied. Inheritance patterns
are autosomal dominant with variable penetrance.
• Turbulent flow and increased leaflet
stress caused by abnormal architecture
( small orifice area ,extended areas of
valve contact, and restricted motion,
….etc ). These stresses lead to valve
damage, scarring, calcification, and
resultant stenosis and regurgitation
• Two-dimensional echocardiography is
recommended as a screening tool for the
offspring and first-degree relatives
(especially males) of patients identified as
having a bicuspid aortic valve because a
high recurrence rate (as much as 12-17%)
has been shown in several families.
Two-dimensional echocardiogram of typical bicuspid
aortic valve in diastole and systole. Valve margins are
thin and pliable and open widely, creating the fish mouth
appearance
                               

Parasternal long-axis echocardiogram

showing doming of a bicuspid aortic valve.
BAV disease is gradually progressive
in the majority of cases being typically
presented with sever aortic stenosis
after 50years of age
 BAV are often associated with dilated
ascending aorta with increased risk of
aortic rupture or dissection attributed
to accelerated degeneration of aortic
media .
• The risk of dissection in patients with BAV
is estimated to be 5 to 9 times that of the
general population and is highest in cases
with concomitant coarctation.

• Surgery to repair or replace the aortic root

should be considered when the root
diameter is >5 cm or if the rate of increase
in diameter is >0.5 cm/y.
• Yearly imaging of the aortic root and ascending
aorta is indicated in patients with a dilated aortic
root (4 cm).

• We perform yearly Tran thoracic

echocardiography and have increasingly utilized
CT and MR angiography over the past decade to
quantify extent of dilatation and as the primary
imaging modality when the aortic root or
ascending aorta cannot be assessed accurately
by echocardiography.
Gradient echo cardiac MR image axial cut at the Figure
level of a2calcified
:A
stenotic bicuspid aortic valve (white arrow) during systole.
The calcium appears black and is predominantly deposited
at the leaflet tips There is fusion of the right and left coronary cusps.
The right atrium (RA) and left atrium (LA) are labeled.
B: Frontal projection of the same patient.
Note the systolic doming despite calcification of this aortic valve (white arr
and the severely dilated ascending aorta (Ao) with characteristic effacemen
of the sinotubular junction.
Note that the dilated ascending aorta tends to normalize proximal to the

innominate artery.
 Rheumatic aortic stenosis
• . rheumatic stenosis results
from adhesions and
fusions of commissuers
and cusps and
vascularization of the
leaflets of valve ring lead
to retraction and stiffness
Aorta has been removed to of both leaflets .
show thickened, fused aortic Calcific nodules develop on
valve leaflets and opened both valve surfaces, and
the orifice is reduced to
coronary arteries from above
small rounded or
triangular opening
Clinical assessment of patient
with valvular obstruction
 History :
 (LATENT PHASE ); patient with valvular
aortic stenosis being at first a symptomatic
and accidentally discovered on routine
physical examination with risk of sudden
death less than1% per year .

 symptom typically develop at age of 50-

70years with BAV and at older than 70with
calcific stenosis of trileaflet valve
• This patient is in need for close clinical as well
as echo-Doppler follow up
• patient should report onset of symptom to his
physician (the most common clinical
presentation in patient under prospective follow
up is a gradual decrease in exercise tolerance ,
fatigue or dyspnea on exertion).
• Doppler aortic jet velocity is the strongest
predictor of progression to symptom .
 SYMPTOMATIC PATIENT ;
the classic symptom of aortic stenosis are
 Angina : either caused by myocardial
supply–demand mismatch or underlying
CAD (represent 50%of patient with
angina) .very rarely caused by Ca emboli
to coronary bed .

 Syncope :it most commonly occur during

exertion due to cerebral hypo perfusion as

a result of systemic vasodilatation in
presence of fixed CO (may be presented
also by graying out spells or dizziness on
effort ) .
It has been also attributed to a abnormal
baroreceptor response in sever aortic stenosis
or a vasodepressor response with increased
LVEDP. Syncope at rest can result from transient
attack of atrial or ventricular fibrillation or being
caused by transient atrioventricular block due to
extension of calcification to the conducting
system .

 Heart failure :exertional dyspnea progress to

orthopnea or PND and fatigue caused by LV
systolic or diastolic dysfunction .
 • Angina
100
failure
80 • syncope
60 2 3 5
• Survival %
40
20

• 0 40 50 60 63
• Age in
years
• Patient survival in aortic stenosis
Associated symptoms
In Heyde's syndrome, aortic stenosis is
associated with angiodysplasia of the colon.
Recent research has shown that the stenosis
causes a form of von Willebrand disease by
breaking down its associated coagulation factor
(factor VIII-associated antigen, also called
von Willebrand factor), due to increased
turbulence around the stenosed valve.
Physical examination
 General examination
 Carotid pulse ; slow rising ,late peaking
,low amplitude pulse ( pulsus parvus et
tardus ) when present its specific for
aortic stenosis. However elder and
patient with concomitant AR maintain
normal pulse in spite of sever stenosis

Note : this finding is rare with LVOTO above

or below the valve
• Blood pressure ;when sever AS is present
systolic blood pressure and pulse pressure
may be reduced .However in elder and
concomitant AR both systolic pressure and
pulse pressure may be normal or even
increased

• Radiation of AS murmur may be felt as

palpable thrill or carotid shudder.
 LOCAL EXAMINATION :
• Palpation ;
The apical impulse is non displaced ,
diffuse ,and sustained . However becomes
displaced inferiorly and laterally with LV
failure

Double apical impulse represent a

palpable a wave caused by non compliant
LV .
A systolic thrill best appreciated over
2nd right inter costal space while patient is
sitting and leaning forward ,during deep
expiration
 AUSCULTATION :
An easily heard systolic, crescendo-decrescendo
(i.e., 'ejection') murmur is heard loudest at the
upper right sternal border, at the 2nd right
intercostal space, and radiates to the carotid
arteries bilaterally.

murmer may be preceded by aortic opening sound

in young adult patient with BAV .

The murmur increases with squatting, decreases with

standing and isometric muscular contraction, which
helps distinguish it from hypertrophic obstructive
cardiomyopathy (HOCM).
The murmur is louder during expiration,
but is also easily heard during
inspiration. The more severe the
degree of the stenosis, the later the
peak occurs in the crescendo-
decrescendo of the murmur.

note :in patient with calcific stenosis high frequency

component radiate to apex (the so called Gallavardin
sign ).
• The second heart sound (A2) tends to
become decreased and softer as the aortic
stenosis becomes more severe. (as
calcification and immobility of the aortic
valve make A2 inaudible ,P2 is masked by
the harsh murmer

• Paradoxical splitting of S2 denote

associated LBBB or LV failure
• S1 is normal or soft
• S4 is common because of reduced LV
compliance
• Maneuvers performed during physical
examination can help to differentiate
different types of LVOTO ,whether this is
at , below or above the valve .That is
demonstrated in the following table
Maneuver Valvular Supra- Sub- HCM
/finding valvular valvular
Pulse INCREASES INCREASES INCREASES DECRESES

volume
after PVC
Effect of DECREASE DECREASE DECREASE INCREASE

valsalva
on systolic
murmer
AR COMMON COMMON COMMON COMMON

S4 COMMON UNCOMMON UNCOMMON COMMON

CAROTID PARVUS
TARDYS
ET UNEQUAL NORMAL OR RAPID JERKY
PARVUSET UPSTROK(BISFIR
PULSE TARDUS IANCE )
 Diagnostic tests

 ELECTROCARDIGRAM( ECG )

The principle ECG changes are LVH (80% ) AND left

atrial enlargement .

 CHEST RADIOGRAPHY

the heart is of normal size unless LV dysfunction or

AR coexist result in cardiomegally
dilatation of ascending aorta is common association
with BAV
calcification of aortic root can be demonstrated on
fluoroscopy
there may be radiological signs of LA enlargement or
pulmonary venous hypertension .
Echocardiogram ;
Transthoracic echo :
It is the standard tool for evaluation and
following patient with aortic stenosis and
selecting them for surgical intervention

Anatomic evaluation of the aortic valve is based

on a combination of short- and long-axis
images to identify the number of leaflets, and to
describe leaflet mobility, thickness, and
calcification .
 Diagnosis of BAV is most reliable when the two
cusps are seen in systole with only two
commissuers forming an elliptical systolic orifice.
Long-axis views may show an a symmetric closure
line, systolic doming, or diastolic prolapse of the
cusps but these findings are less specific than a
short-axis systolic image.

 With calcification of a bicuspid or tricuspid valve,

the severity of valve calcification can be graded
semi-quantitatively, as mild (few areas of dense
echogenicity with little acoustic shadowing),
moderate, or severe (extensive thickening and
increased echogenicity with a prominent acoustic
shadow). The degree of valve calcification is a
predictor of clinical outcome.
 Rheumatic AS is characterized by commissural
fusion, resulting in a triangular systolic orifice,
with thickening and calcification most prominent
along the edges of the cusps. Rheumatic
disease nearly always affects the mitral valve
first, so that rheumatic aortic valve disease is
accompanied by rheumatic mitral valve changes
• Figure 2 Echocardiography appearance in
aortic stenosis. Parasternal short-axis
views in (A) calcific degenerative disease,
(B) bicuspid aortic valve, and (C)
rheumatic disease.
• Recommendations for data recording and
measurement for AS quantitation
•

Continuous wave Doppler of

sever aortic stenosis jet show
measurement of maximum
velocity and tracing of velocity
curve to measure mean
pressure gradient
 primary hemodynamic parameters
recommended for clinical evaluation of AS
severity are:
● AS jet velocity
● Mean transaortic gradient
● Valve area by continuity equation.
Recommendations for classification of AS severity

ESC Guidelines.
• Never to evaluate AS with uncontrolled
hypertension as it may not accurately reflect
disease severity. Thus, control of blood pressure
is recommended before echocardiography
evaluation, whenever possible.
• The echocardiography report should always
include a blood pressure measurement recorded
at the time of the examination to allow
comparison between serial echocardiography
studies and with other clinical data.
 • Resolution of apparent discrepancies in
measures of AS severity

•
 In addition to evaluation of AS etiology and
hemodynamic severity, the echocardiography
evaluation of adults with aortic valve disease should
include evaluation of :

1) LV hypertrophy and systolic function

2) Measurement of aortic root dimensions (look for
associated coartication in suprasternal window).
3) Doppler assessment of concomitant AR .
4) Measurement of pulmonary artery pressure and
assessment of RV function .
5) Associated MVD .
 Transesophageal echo (TEE );
 Its useful in detecting morphology of the valve
in congenital stenosis .
 assessment of annulus dimension is critical for
the choice of prosthesis size. For this , TEE may
be superior to TTE

 Dobutamin echo and stresse

echocardiography
 Stress echo in a symptomatic patient may provide
information about exercise induced symptoms or
blood pressure response , however
contraindicated in symptomatic patient
 DSE is useful in assessment low-flow /low
gradient aortic stenosis ( Effective orifice area
1.0 cm2, LV ejection fraction 40%and Mean
pressure gradient 30–40 mmHg(.

Dobutamin stress provides information on the

changes in aortic velocity, mean gradient, and
valve area as flow rate increases, and also
provides a measure of the contractile response
to Dobutamin, measured by the change in SV or
ejection fraction
•
These data may be helpful to
.

differentiate two clinical situations:

● Severe AS causing LV systolic dysfunction.

● Moderate
AS with another cause of LV
dysfunction (e.g. myocardial infarct or a primary
cardiomyopathy).
• The recommend reliable findings are:

● An increase in valve area to a final valve area >1.0

cm2 suggests that stenosis is not severe.

● Severe stenosis is suggested by an AS jet> 4.0m

/sec or a mean gradient> 40 mmHg provided that
valve area does not exceed 1.0 cm2 at any flow
rate.

● Absence of contractile reserve (failure to increase

SV or ejection fraction by 20%) is a predictor of a
high surgical mortality and poor long-term outcome
although valve replacement may improve LV
function and outcome even in this subgroup
 CARDIAC CATHETERIZATION
Uses of catheterization in AS is limited to
 preoperative catheterization “CA” in
patient >50years , patient with angina and
those with risk factor for CAD (CLASS I ).

 catheter –derived haemodynamic data

to further evaluate severity of AS when
clinical and echo data are discrepant
(CLASS I ).
•

Simultaneous left ventricular and aortic pressure

tracings demonstrate a pressure gradient
between the left ventricle and aorta, suggesting
aortic stenosis. The left ventricle generates higher
pressures than what is transmitted to the aorta.
The pressure gradient, caused by aortic stenosis,
is represented by the green shaded area.
(AO = ascending aorta; LV = left ventricle;
ECG = electrocardiogram.)
 MANGMENT
• valvular obstruction need regular clinical
and echo follow up (every 3-5y for mild
stenosis and every 1-2y for moderate
stenosis ) , once severity is demonstrated
patients should be considered a surgical
candidates and role of medical therapy is
restricted for inoperable cases and
management of associated LV failure and
concurrent cardiac conditions as HTN and
CAD .
Percutaneous aortic balloon valvuloplsty
and percutaneous valve replacement

• For adolescent and young adults balloon

aortic valvotomy should be considered as
it result in remarkable haemodynamic
improvement, however abnormal valve
anatomy result in turbulent blood flow and
so valve deformation ending in aortic
regurgitation or restenosis that requires
AVR later on .
 Surgical aortic valve replacement

• AVR is the definitive therapy for symptomatic AS

and is mandatory unless there are compelling
contraindications for operation. AVR is usually
accomplished using a bioprosthetic or mechanical
valve, performed through a median sternotomy
incision, although recently less invasive techniques
have been carried out through smaller
hemisternotomy incisions .
• For pediatric and adolescent patient with
growth potential Ross procedure is best
suited where pulmonary valve and main
pulmonary artery are removed as unit and
placed in aortic position with
reimplantation of coronary arteries as
autograf is capable of growth, dose not
require anticoagulation and has an
excellent hemodynamics .
• for patients older than 60 years
bioprostheses including porcine
heterografts and bovine pericardial
prostheses as structural deterioration is
much slower in this age group and these
valves has low risk for thromboembolism
and don’t necessitate long term
anticoagulation.
Recommendations for Aortic Valve Replacement in
Aortic Stenosis
• 1. Symptomatic patients with severe AS I
• 2. Patients with severe AS undergoing coronary artery bypass surgery I
or surgery on the aorta or other heart valves
• 3.patient with sever AS and left ventricular EF <50% I
• 4. Patients with moderate AS under- going coronary artery bypass
surgery or surgery on the aorta or other heart valves II a
• 5. Asymptomatic patients with severe AS and Abnormal
• response to exercise (e.g., hypotension) II b
• 6. Asymptomatic patients with severe AS if there is a high likelihood of rapid
progression (age, calcification , CAD ,….).
• 7.AVR can be considered in patient undergoing CABG who have mild AS
with high possibility of rapid progression (presence of moderate to sever
valve calcification). II b
• 8. AVR may be considered for a symptomatic patient with sever aortic
stenosis (AVA <0.6cm2 , mean gradient >60mmHg ,and jet velocity
>5.0mper second )when expected operative mortality <1.0%. II b
• 6. Prevention of sudden death in a symptomatic patients with none of the
findings listed underclass II a/II b III
•
 Subvalvular obstruction
 the most relevant conditions associated to subaortic
obstruction involves
1. Hypertrophic Cardiomyopathy (HC)

2.Subaortic obstruction after mitral valve repair (SAM effect)

3 .“Mid-ventricular obstruction” and SAM after aortic surgery

4.Fixed discrete subaortic stenosis

. LVOTO in atrioventricular septal defect (AVSD)

5

6. Multiple levels LVOT obstruction : the spectrum of the hypo plastic left heart syndrome
and the Shone complex

• 7. Miscellaneous causes of LVOTO.

Other abnormalities directly or indirectly related to the components of the outflow tract
such as tissue tags ,membranous septum aneurysm, anomalous attachment of
the mitral valve (especially in the setting of true cleft anterior leaflet) or hypertrophy
of the anterolateral muscle of the LV (Moulaert’s muscle) may be recognized as
anatomic causes of LVOTO
 Fixed discrete
subaortic stenosis
Fixed subvalvular aortic stenosis accounts
for 10% to 20% of cases of aortic stenosis
in children, and the male to female ratio is
2:1 to 3:1 .
Associated cardiac defects are present in
more than half of cases . Common
associated defects include ventricular
septal defect, coarctation of the aorta,
atrioventricular septal defect, and valvular
aortic stenosis.
The obstruction in fixed subvalvular aortic
stenosis usually consists of a collar or ridge of
membranous and/or fibro muscular tissue
encircling the left ventricular outflow tract, or in
some cases it may be diffuse and tunnel-like .

Mitral valve anomalies are also frequently

present and likely play a role in the
pathophysiology of the obstruction in some
patients .(insertion of a papillary muscle or
chordal tissue into the septum or aortic leaflet,
accessory mitral valve tissue, and
muscularization of the subaortic portion of the
anterior leaflet).
 The aortic valve may be thickened, and is
usually tricuspid. The aortic valve abnormality
appears to be acquired and may be a
consequence of the turbulent flow jet
damaging the aortic valve cusps , but might
also result from progression of the underlying
disease substrate.

 Most cases seem sporadic, although familial

subaortic stenosis has been reported .
Clinical Features and Diagnostic
Methods
The diagnosis of subaortic stenosis frequently
surfaces during echocardiograph evaluation at the
time of diagnosis or follow-up of associated
congenital heart disease, such as ventricular
septal defect or coarctation of the aorta.

 Patients with isolated subaortic stenosis usually

present with an asymptomatic heart murmur.
Commonly the patient is first thought to have an
innocent murmur, but as the stenosis progresses
the murmur becomes more typical of left
ventricular outflow tract obstruction.
Chest pain and syncope may occur but generally nly
when the stenosis is severe.

The systolic ejection murmur is loudest at the mid left

sternal border and radiates to the upper sternal
borders and into the suprasternal notch. A systolic
click is rare, which helps to differentiate subvalvular
aortic stenosis from valvular aortic stenosis.

The left ventricular impulse may be hyper -dynamic,

and associated findings of aortic regurgitation and/or
mitral valve regurgitation may be present.
• The ECG usually demonstrates left
ventricular hypertrophy, even in many
cases with mild stenosis although the
ECG may occasionally be normal even in
severe subaortic stenosis .

• The chest radiograph is generally normal,

and dilation of the ascending aorta is
much less common than in valvular aortic
stenosis
Echocardiography with Doppler evaluation is
highly sensitive and specific for making the
diagnosis of subaortic stenosis and defining
the anatomy of the lesion .

Early systolic partial closure and fluttering of

the aortic leaflets may be present .

Careful evaluation of the aortic and mitral

valve anatomy and function is mandatory, as is
a thorough search for associated lesions.
 Pulsed Doppler demonstrates velocity
acceleration and aliasing in the outflow tract
beneath the valve, and continuous wave
Doppler allows accurate calculation of the peak
instantaneous and mean pressure gradients

Coexistent valvular aortic stenosis is confirmed

by an additional pulsed Doppler velocity
increase above the aortic valve.
• Transesophageal echocardiography may
be helpful in further defining left ventricular
outflow tract anatomy and is commonly
performed intraoperatively to assist during
repair by evaluating the valve's anatomy
and function pre- operatively and
postoperatively.
Tran thoracic echocardiogram in the Parasternal
long-axis orientation demonstrating a discrete
subaortic membrane (white arrow) during diastole
The anterior mitral leaflet is labeled (AML).
B, Color-flow Doppler in systole demonstrating
flow acceleration at the subaortic membrane
well below the level of the aortic valve .
• Invasive cardiac catheterization is usually
unnecessary unless echocardiography is
equivocal.
• Magnetic resonance (MR) imaging can
also be used to clarify anatomy and
quantify flow velocity.
 MANGMENT
• Although balloon dilation has been
reported, long-term success is limited, and
treatment for subaortic stenosis is surgical
• Surgical intervention may be indicated at
time of repair of primary lesions or in
cases with discrete obstruction when the
obstruction is severe enough to raise
concerns
• Surgical intervension is indicated when a
mean gradient across the LVOT is more
than 30mmHg to avoid future aortic leaflet
damage .

• Surgery involves fibromectomy , with care

to avoid damage to aortic valve or to
create a traumatic VSD .
 Hypertrophic
Cardiomyopathy (HCM )
o Hypertrophic cardiomyopathy (HCM) is the
most frequent genetic cardiac disease that
causes sudden death in young people, with
an incidence of 1:500 adults.

o Characterized by a thickened but non

dilated left ventricle in the a absence of
another cardiac or systemic condition
capable of producing the magnitude of
hypertrophy evident .
• Genetics
– Autosomal Dominant
– Caused by missense mutation in gene that
encode for protein in cardiac sarcomere.
• Most common: gene encoding beta-myosin heavy
chain and myosin-binding protein C.
– Phenotypic expression: occurs 1 in every 500
adults, including abnormal LV hypertrophy
Morphologic Patterns
– Asymmetric septal hypertrophy (most common)
– Concentric hypertrophy
– Apical hypertrophy (often associated with a “spade”
deformity of the left ventricle and marked T wave
negativity on the electrocardiogram )
– Free wall LV hypertrophy
– Basal septal hypertrophy
• Causes narrowing LVOT and provides substrate for
dynamic obstruction
• Blood flow velocity across narrowed LVOT produces
Venturi effect, consequently mitral leaflets and support
apparatus are drawn toward septum (SAM), contributing
to LVOT obstruction and causing mild to moderate
posteriorly directed MR.
 • Morphologic variants of hypertrophic
• cardiomyopathy

A: Normal or mildly hypertrophied LV (the electrocardiogram is often abnormal)

; B: Idiopathic subaortic stenosis (IHSS) or LV outflow tract (LVOT) obstructive HCM;
C: Asymmetrical septal hypertrophy (ASH)
; D: Elderly HCM; F: Reversed ASH; G: LV wall thinning, low LVEF, and left and right atrial enlargement
H: Mixed LVOT and midcavity obstructive HCM; I: Apical HCM; J: Cavity obliteration;
K: Biventricular hypertrophy and obstruction; L: Symmetric hypertrophy
Pathophysiologic mechanisms in hypertrophic cardiomyopathy.
C.O., cardiac output; LAp, left atrial pressure;MR, mitral
regurgitation; SAM, systolic anterior motion of the mitral
valve.
 History
Clinical presentation
• HCM may be newly diagnosed at any age from
early childhood to advanced age.
• The clinical presentation of HCM varies widely.
Patients may be completely asymptomatic, with
the diagnosis made on the basis of a heart murmur,
abnormal ECG , or during screening prior to
participation in competitive athletics .

• Even patients with massive hypertrophy of the heart

can be completely asymptomatic and some patients
are not diagnosed until they present with sudden
cardiac death.
 ECG from a patient with apical HCM showing the
“giant T negativity syndrome” (T waves more
negative than 10 mm) in the precordial leads,
usually maximal in V4.

©
The typical triad of symptoms
in HCM includes

• dyspnea on exertion,
• angina
• presyncope or syncope
• Dyspnea is the most common presenting symptom and
occurs in as many as 90% of symptomatic patients. The
dyspnea in HCM is due to increased left atrial pressure,
which can result from abnormal left ventricular diastolic
function, outflow tract obstruction, or significant mitral
regurgitation.

• Angina pectoris is common even in the absence

of epicardial coronary artery disease and is related to an
abnormal myocardial oxygen supply/demand mismatch due
to the hypertrophied left ventricular walls, increased
arteriolar compressive wall tension caused by diastolic
relaxation abnormalities, and endothelial dysfunction.
• Syncope may be due to arrhythmias or a sudden
increase in outflow tract obstruction. Patients with
HCM frequently have abnormal autonomic
function ,and vasodepressor syncope may be part
of the mechanism of syncope.

• Syncope identifies children with hypertrophic

cardiomyopathy at significantly increased risk of
sudden death and warrants an urgent evaluation
and aggressive treatment.

•  Like syncope, presyncopal episodes warrant

a directed evaluation to rule-out malignant
arrhythmias .
Sudden cardiac death
– This is the most devastating presenting
manifestation and, unfortunately, may be the first
clinical manifestation of the disease, even among
asymptomatic patients.

– Sudden cardiac death has the highest incidence in

preadolescent and adolescent children and is
typically associated with sports or vigorous exertion.

– The arrhythmia that causes sudden death is

ventricular fibrillation in more than 80% of
individuals with hypertrophic cardiomyopathy.
 Many patients with hypertrophic
cardiomyopathy develop ventricular
fibrillation following atrial fibrillation, atrial
flutter,
supraventricular tachycardia associated wit
h Wolff-Parkinson-White syndrome
, ventricular tachycardia, and/or low–
cardiac-output hemodynamic collapse.
Early diagnosis is of prime importance if
death is to be prevented by prescription of
an appropriate level of safe activity,
medications, surgery, and/or an
implantable cardioverter defibrillator.
Physical Examination in HCM

• Physical examination findings are always

abnormal when there is obstruction of the
outflow tract, but in non-obstructive HCM
the physical examination may be less
obvious.
o Inspection
• The jugular venous pressure may be
slightly increased, with a prominent “a”
wave indicating abnormal diastolic
function of the right side of the heart.
o palpation
• The hallmark of the physical examination in
HCM is the finding of severe myocardial
hypertrophy; This is detected by palpation
of the left ventricular apex, which is
localized but markedly sustained.
• There frequently is a palpable presystolic
impulse of the augmented atrial contraction
present (palpable S4).
 The carotid pulse has a rapid upstroke due to the
hyperdynamic systolic function and rapid ventricular emptying.

In the presence of ventricular outflow tract obstruction, the carotid

upstroke has a distinctive “jerky” bifid quality (spike-and-dome
pulse). The spikeis the initial rapid ventricular emptying phase,
where as the dome corresponds to the onset of ventricular
obstruction, followed by the more gradual increase inventricular
pressure to overcome the gradient.

C, bifid pulse characteristic

f IHSS;
 Auscultation
Heart sounds

• The first heart sound is normal in patients with

hypertrophic cardiomyopathy.

• The second heart sound can be normal or usually

split; however, in some patients with hypertrophic
cardiomyopathy and extreme outflow gradients, the
second heart sound split paradoxically.

• A third heart sound or gallop is common in children

with hypertrophic cardiomyopathy but does not have
the same ominous significance as in patients with
valvular aortic stenosis or in adults.

• A fourth heart sound is frequently heard and is due to

atrial systole against a highly noncompliant LV.
A harsh systolic ejection murmur is heard
across the entire precordium and radiates to
the apex and base of the heart but not the
neck. In many instances, a separate mitral
regurgitation murmur may be auscultated
(holosystolic ,blowing ,and radiate to axilla ).

Both murmurs respond in a similar manner to

examination maneuvers that change the
loading conditions of the left ventricle;
• The murmur of HCM is increased by
maneuvers that decrease left ventricular
end-diastolic volume (decreased venous
return, decreased afterload, increased
contractility, pure vasodilators, inotropes,
dehydration, and the Valsalva maneuver).

• The murmur decreases with squatting,

passive leg raising, negative inotropes
such as β-blockers, verapamil,
disopyramide, and any maneuver that
increases left ventricular end-diastolic
volume.
• EVALUATION
— Several modalities are used to
evaluate patients who are thought to have
HCM (because of a positive family history)
or who present with the symptoms or
physical findings suggestive of HCM
 The best first step is an
echocardiogram
(Demonstrates cardiac morphology and function,
extent of SAM of the MV, degree of MR, and
severity of LVOT gradient)
• Echocardiographic assessment in a
patient with HCM requires comprehensive
imaging of the left ventricle from several
projections, including Parasternal long
axis, serial short axis views, and imaging
from the apical and sub costal windows.
• The Parasternal long axis view is of
pivotal importance for orientation, The long
axis projection examines the profile of the
ventricular septum and left ventricular
outflow tract, with good visualization of the
aortic valve and mitral valve, including the
subvalvar apparatus. From this view, the
relations between the basal septum, mitral
valve, and aortic valve during the cardiac
cycle can be appreciated
 Typical M mode echocardiogram from a patient
with hypertrophic cardiomyopathy highlighting
the four main echocardiographic features of the
condition.

Prasad K et al. Heart 1999;82:III8-III15

©1999 by BMJ Publishing Group Ltd and British Cardiovascular Society

Typical M mode echocardiogram from a patient
with hypertrophic cardiomyopathy highlighting the
four main Echocardiographic features of the
condition:
(A) Midsystolic closure of the aortic valve (arrowhead)

(B) systolic anterior motion of the mitral valve (arrow) and

asymmetric left ventricular hypertrophy together with a
small, vigorously contracting left ventricle.

(C) and (D), the M mode beam passes through the

septum and posterior wall beyond the mitral valve, at the
level of the papillary muscles and apex, demonstrating the
large reduction of left ventricular end systolic dimensions.
• Multiple short axis sections from the mitral
valve level down to the most distal
segment, together with good, not
foreshortened, apical two and four
chamber views, are fundamental to a
complete evaluation. Wall thickness
should be measured in four segments
anterior and posterior septal, lateral and
inferior to characterise the extent and
distribution of ventricular hypertrophy .
 An example of serial short axis, cross sectional views of
the left ventricle at three levels—the mitral valve, papillary
muscles, and apex—demonstrating the segments of
myocardial wall measured routinely in patients with
hypertrophic cardiomyopathy.

Prasad K et al. Heart 1999;82:III8-III15

©1999 by BMJ Publishing Group Ltd and British Cardiovascular Society

 • Obstruction in HCM

• The diagnosis of HCM with obstruction is

based on resting gradient of more than
30mmHg or provocation gradient greater
than 50mmHg , that correlates with the
time of onset and duration of contact
between mitral leaflet and septum ,the
earlier and the longer the contact, the
higher the pressure gradient .
 Continuous wave Doppler
•
examinations are performed
from the apical window to
estimate the LV outflow tract
pressure gradient
Doppler Echocardiographic tracing showing a resting LVOT velocity of 4.8 m/s

corresponding toT aE ,gradient

Sirak Sherrid M V of .
922008;133:1243-1246
Chest mmHg
• The typical appearance of the HCM
Doppler signal is late-peaking and
frequently referred to as “dagger-shaped”
• Doppler “dagger-shaped” late-peaking signal of intracavitary gradient in
hypertrophic cardiomyopathy accentuated by Valsalva response and by
inhaled amyl nitrite. At rest, the velocity is 3.0 m/s (gradient, 36 mm Hg)
and increases to 3.5 m/s (gradient, 50 mm Hg) during Valsalva and to 4.7
m/s (gradient, 88 mm Hg) after inhalation of
• amyl nitrite.
 Apical long axis view with colour flow mapping in a
patient with hypertrophic cardiomyopathy and a
midventricular gradient and an apical aneurysm.

Prasad K et al. Heart 1999;82:III8-III15

©1999 by BMJ Publishing Group Ltd and British Cardiovascular Society

 Other studies
 Electrocardiography and holter monitoring
o An abnormal ECG in the young is a sensitive marker
of early disease expression .
o The most frequent ECG changes are
Left atrial enlargement
Repolarization abnormalities, and pathologic Q waves,
most commonly in the inferolateral leads.
Voltage criteria for left ventricular hypertrophy
(nonspecific).
Giant negative T waves in the mid-precordial leads
(apical hypertrophy) .
Some patients have a short PR interval with a slurred
QRS upstroke, not usually associated with Wolff-
Parkinson-White syndrome.
o•Ambulatory electrocardiographic monitoring
frequently reveals premature ventricular complexes
(88%), Nonsustained ventricular tachycardia (25% to
30%) and supraventricular tachyarrhythmia's (30% to
40%) such as atrial fibrillation and flutter.

o Sustained ventricular tachycardia is rare, but can occur

in patients with apical left ventricular aneurysms

o . The frequency of all arrhythmias during 48-hour

ambulatory electrocardiographic monitoring is age
related.

o supraventricular arrhythmias are more common in

patients with outflow tract obstruction.
Magnetic Resonance Imaging

• Magnetic resonance imaging is of

particular value in HCM when 2-D echo is
unable to document the site and extent of
hypertrophy, especially in apical ,basal
free wall and antrolateral paterrns of HCM.
Cardiac Catheterization

• Catheterization is indicated when planning

therapy (e.g., in severe mitral
regurgitation) and in excluding coronary
atherosclerosis in older patients with chest
pain.
•
• Pressure tracings demonstrating the Brockenbrough–Braunwald–
Morrow sign
AO = Descending aorta; LV = Left ventricle; ECG =
Electrocardiogram.
After the third QRS complex, the ventricle has more time to fill.
Since there is more time to fill, the left ventricle will have more
volume at the end of diastole (increased preload). Due to the
Frank–Starling law of the heart, the contraction of the left ventricle
(and pressure generated by the left ventricle) will be greater on the
subsequent beat (beat #4 in this picture). Because of the dynamic
nature of the outflow obstruction in HCM, the obstruction increases
more than the left ventricular pressure increase. This causes a fall in
the aortic pressure as the left ventricular pressure rises (seen as the
yellow shaded area in the picture).
• Left ventriculography may show a septal
bulge encroaching on the left ventricular
outflow tract during systole together with
systolic anterior motion of the anterior
mitral valve leaflet and mitral regurgitation.
In patients with hypertrophy confined to
the left ventricular apex, the ventricular
angiogram may show a characteristic
spade-shaped‌appearance in the right
anterior oblique projection.
 Radionuclide Scanning and
PET

• Reversible perfusion defects are likely to

be associated with increased risk of SCD
• The characteristic radio ventriculographic
findings of HCM include
abnormal diastolic filling.
delayed peak filling
prolonged isovolumic relaxation .
• Cardiomyopathy ”hypertrophic“. Stress (top row)
and rest (bottom row) technetium-99m Sesta-2-
methoxy-isobutyl-isonitrile (MIBI) perfusion
images of hypertrophic cardiomyopathy shows a
reversible septal perfusion defect that is not
related to coronary obstruction. The septum is
markedly thickened (4 cm on the
echocardiogram).
Elevated plasma BNP
– Highest concentrations occur in pts with LVOT
obstruction
– Increased ventricular expression is due to
obstruction, diastolic dysfunction and other
factors.
 Risk Assessment for Sudden
Cardiac Death in HCM
Numerous clinical features have been proposed as markers of
increased risk of sudden death the most readily determined in
clinical practice include:
1. Previous cardiac arrest
2. Unexplained syncope (SPECIALY EXERIONAL ).
3. Family history of premature sudden deaths
4. Nonsustained ventricular tachycardia during 48-hour
ambulatory ECG monitoring
5. An abnormal blood pressure response during exercise (failure
of blood pressure to rise appropriately by more than 20 to 30
mm Hg from baseline)
6. severe left ventricular hypertrophy (maximum wall thickness
oF30 mm) .

The risk associated with all these risk factors is greatest in

younger patients .
 MANAGEMENT OF
OBSTRUCTIVE HCM
• General Principles
■ All first-degree relatives should undergo screening
with echocardiography, and younger affected members
of the family should have genetic counseling if they plan
to have a family.
■ For adults, screening should be repeated every 5
years, while children and those participating in
competitive athletics should be screened every 12-18
months.
■ HCM patients should avoid competitive athletics or
other types of strenuous activity, but may participate in
low-level aerobic exercise to promote general
cardiovascular health.
 Antibiotics should be given prophylactically
according to the AHA guidelines before surgical
and dental procedures to prevent infective
endocarditis.
■ Dehydration should be avoided.
■ Holter monitoring should be performed for 24-
48 hours to detect ventricular arrhythmias and
for risk stratification.
■ Pure vasodilators, high-dose diuretics and
positive inotropes should be avoided as they
may exacerbate left ventricular outflow
obstruction.
 Pharmacological therapy
 β-Blockers, Calcium Blockers, and /or Disopyramide
• For patients with obstructive cardiomyopathy and
symptoms, first-line pharmacologic therapy should be
negative inotropic agents.

• β-Blockers β-Blockade with large dosages in the range of 200

to 400 mg propranolol or equivalent per day is a good first
choice .relieve symptoms in about 50% of patients by
slowing the heart rate, which allows a longer diastolic filling
time and decreases myocardial oxygen consumption, thus
reducing myocardial ischemia and
left ventricular outflow tract obstruction through a direct
negative inotropic effect.
• If this does not adequately decrease the intraventricular
gradient and control symptoms, calcium channel blockers may
be added ,usually verapamil in dosages of 240 to 320 mg per
day. Care must be taken when prescribing calcium channel
blockers for patients with large outflow tract obstruction,
because acute homodynamic deterioration may occur because
of peripheral vasodilatation.

• Disopyramide, a class I antiarrhythmic agent with strong

negative inotropic properties, may also be used to treat HCM,
especially in patients with outflow tract obstruction, however, it
has significant side effects, anticholenergic properities
,possibility of augmenting AV nodal conduction in presence of
AF so only used in symptomatic patient when more definitive
procedure is being planned .
Non pharmacological therapy

Surgery should be considered in all

patients with outflow tract gradients
greater than 50 mm Hg (resting or with
provocation) and symptoms refractory to
medical therapy .
 septal myectomy ;((Morrow procedure ))
• The outflow tract is effectively
widened; thereby abolishing the gradient
and eliminating systolic anterior motion
mediated mitral regurgitation with infrequent
<5%)complications and mortality.

Alcohol Septal Ablation for HCM

• used for patients who are not
candidates for septal myectomy
 Dual-Chamber Pacing in HCM

 Pacing was advocated as another means

of relieving outflow obstruction.

The proposed mechanism for the

beneficial effects of pacing include
optimization of atrioventricular synchrony,
alteration of ventricular activation sequence
(i.e. apex to base), and potentially long-term
remodeling to widen the outflow tract .
 NON OBSTRUCTIVE HCM
• BB and /or verapamil .
• Diuretics (congestion).
• Transplantation.
• ACE , diuretic ,dig ; for end stage HCM.
 HCM WITH AF
• DCC (direct current cardioversion) for
heamodynamicaly unstable patient
• BB/OR verapamil for rate control
• Disopyramid or sotalol to maintain NSR
• Amiodaron for refractory cases .
• DDD with nodal ablation in patient with
persistent symptom with failed medical therapy
• Anticoagulation for chronic AF .
 HCM with VT

• Amiodaron or AICD (automatic

implantable cardioverter defibrillator) for
NSVT in high risk patient.
• AICD with pacing capabilities for cardiac
arrest survivors .
• Transplantation for refractory VT.
Treatment of hypertrophic cardiomyopathy according to
clinical presentation

                                                                                 

DDD pacing: dual chamber pacing; LVMM: left ventricular myotomy

and myectomy; RNA: radionuclide angiography; RFA: radiofrequency
ablation; Isch: ischemia; SVT: supraventricular tachycardia; VT:
ventricular tachycardia.
 Management algorithm of
hypertrophic cardiomyopathy
• ACC/AHA guidelines for management of patients with
ventricular arrhythmias and prevention of sudden
cardiac death
 Recommendations
• Class I ICD therapy should be used for treatment in patients with
hypertrophic cardiomyopathy (HCM) who have sustained VT and/or
VF and who are receiving chronic optimal medical therapy and who
have reasonable expectation of survival with a good functional
status for more than 1 year. (Level of Evidence: B)
• Class II a 1. ICD implantation can be effective for primary
prophylaxis against SCD in patients with HCM who have one or
more major risk factor for SCD and who are receiving chronic
optimal medical therapy and in patients who have reasonable
expectation of survival with a good functional status for more than 1
year. (Level of Evidence: C)
2. Amiodarone therapy can be effective for treatment in
patients with HCM with a history of sustained VT and/or VF when
ICD is not feasible. (Level of Evidence: C)
• Class II b 1. EP testing may be considered for risk assessment for
SCD in patients with HCM. (Level of Evidence: C)
2. Amiodarone may be considered for primary
prophylaxis against SCD in patients with HCM who have one or
more major risk factor for SCD (See Table 5), if ICD implantation is
not feasible. (Level of Evidence: C)
Supravalvular obstruction

• It involves
supravalvular aortic stenosis
and congenital LVOT lesions
(coartication of the aorta , aortic arch
interruption ,aortic arch hypoplasia
…..)
 Supravalvular aortic stenosis (SVAS)

Supravalvular aortic stenosis (SVAS) is a fixed form of

congenital left ventricular outflow tract (LVOT)
obstruction that occurs as a localized or a diffuse
narrowing of the ascending aorta beyond the superior
margin of the sinuses of Valsalva.

It accounts for less than 7% of all fixed forms of

congenital LVOT obstructive lesions.

Supravalvular aortic stenosis may occur sporadically,

as a manifestation of elastin arteriopathy, or as part of
Williams syndrome (also known as Williams-Beuren
syndrome), a genetic disorder with autosomal
dominant inheritance.
• Two-dimensional suprasternal
echocardiography image of supravalvular
aortic stenosis.
• Aortogram of a patient with supravalvular
aortic stenosis and dilated sinus of
Valsalva.
 Supravalvular aortic stenosis has 3
commonly recognized morphologic
forms.
1) An external hourglass deformity with a corresponding
luminal narrowing of the aorta at a level just distal to
the coronary artery ostia is present in 50-75% of
patients.
2) In approximately 25% of patients, a fibrous
diaphragm is present just distal to the coronary artery
ostia.
3) In fewer than 25% of patients, a diffuse narrowing
along a variable length of ascending aorta is present .
 Similarly, the following 3 anatomic
subtypes of coronary lesions have been
recognized in supravalvular aortic
stenosis
1)Circumferential narrowing of the left coronary
ostium

2)Ostial obstruction due to fusion of the aortic

cusp to the supravalvular ridge

3)Diffuse narrowing of the left coronary artery

• Supravalvular stenosis is a progressive
lesion

• The risk of sudden cardiac death, including

an operated patients, is 1 case per 1,000
patient /year and is 25-100 times higher than
in the normal population.

• Patients with supravalvular aortic stenosis

are vulnerable to cardiac arrest or significant
hemodynamic instability during induction of
anesthesia and cardiac catheterization
 Clinical assessment
• History
Symptoms caused by supravalvar aortic stenosis
(SVAS) usually develop in childhood and only rarely
do so in infancy; however, some patients may develop
symptoms in the second or third decade of life.

• Most pediatric patients present because of a heart

murmur or the features of Williams syndrome
(elfin facies, mental retardation, "cocktail party"
personality, gastrointestinal problems , systemic
hypertension, hypercalcemia and progressive joint
involvement) .
• Dyspnea on exertion, angina, and syncope
develop in the course of the disease if
untreated.
– These symptoms indicate at least a moderate
degree of left ventricular (LV) outflow tract (LVOT)
obstruction.
– Because of the coronary artery involvement,
angina may arise early and more often than in
other obstructive LVOT lesions.
– Because of the risk of sudden death in
supravalvular aortic stenosis, the development of
angina and syncope should prompt immediate
investigation.
• Physical examination
Asymmetric upper extremities pulses:

Discrepancies between carotid pulsations and

upper extremities pulses and blood
pressure are the characteristic clinical
findings of supravalvular aortic stenosis.
The jet of blood flow from supravalvular
aortic stenosis demonstrates preferential
trajectory into brachiocephalic (innominate)
artery (i.e., Coandă effect), which accounts
for the discrepancies.
Precordium: The apex is usually
hyperdynamic, and displaced laterally
and inferiorly because of ventricular
hypertrophy.
A thrill in the suprasternal notch is
usually felt because of the trajectory of
the blood flow jet from supravalvular
aortic stenosis.
Auscultation:
Heart sounds:

 The first heart sound is generally normal.

 A narrowly split, single, or paradoxically

split second heart sound

 A fourth heart sound are present in severe

supravalvular aortic stenosis.

 An ejection click is absent in supravalvular
aortic stenosis
 Heart murmurs:. The characteristic systolic
murmur of supravalvular aortic stenosis is
crescendo-decrescendo in shape, low pitched,
and best heard at the base of the heart sited
higher than in valvular aortic stenosis. It mainly
radiates to the right carotid artery and tends to
peak during the last two thirds of the ventricular
systole if the obstruction is severe.
A high-pitched, short, early diastolic aortic
regurgitation murmur is uncommon in
supravalvular aortic stenosis
 Laboratory Workup
• Echocardiography:
The anatomic diagnosis of supravalvular aortic stenosis can
be made from 2-dimensional echocardiography that uses
multiple views, including Parasternal, apical long-axis, and
suprasternal

In supravalvular aortic stenosis with hourglass deformity

and diffuse hypoplasia, the diameter of the ascending
aorta is smaller than that of the aortic root.

In supravalvular aortic stenosis with fibrous diaphragm,

the external ascending aortic diameter is normal, although
echogenic membrane is commonly observed above the
sinuses of Valsalva.
 Turbulent color flow mapping indicates the
site of hemodynamically significant
obstruction and can reveal coronary Ostial
stenosis, the incidence of which is high in
SVAS.

 Doppler peak gradient overestimates and,

therefore, does not predict catheter-
measured gradient well in patients with
supravalvular aortic stenosis and may not be
reliable in assessing its severity and guiding
the need for intervention.
• MRI: This can provide high definition of
the lesion, although obtaining an MRI of
infants and young children may require
sedation, which carries risk of sudden
death and, therefore, should be
undertaken with close supervision and
administered by an experienced
anesthesiologist.

• Alternatively, multislice CT with

angiography, which can generate high-
resolution images of the lesion within
seconds, can be used. However, this
process exposes the child to radiation.
• Chest radiography: Cardiac silhouette
may be variably increased, and the
ascending aorta may be asymmetrically
dilated. The presence of both findings
indicates hemodynamically significant
supravalvular aortic stenosis.
• Electrocardiography:
Electrocardiography usually reveals
left ventricular hypertrophy, depending on the
severity of stenosis. ST-T segment changes
may be present with involvement of coronary
ostia and the coronary arteries.

• Genetic evaluation:
Obtain a genetic evaluation for patients
with supravalvular aortic stenosis to discern
the diagnosis of Williams syndrome, which is
often associated with supravalvular aortic
stenosis.
• Cineangiography:
A biplane left ventriculogram and an Aortogram
can reveal the morphology of supravalvular
narrowing, stenosis of the arch vessels,
abnormalities of aortic root, and dilated coronary
arteries .
Right ventricular or pulmonary arterial
angiography should be performed
simultaneously to demonstrate the presence of
peripheral pulmonary artery stenosis, particularly
in Williams syndrome
 Mangment

• Drug therapy has no role in the

treatment of symptomatic patients
with supravalvar aortic stenosis
(SVAS). Precautions to prevent
bacterial endocarditic are necessary.
 Surgery is the primary treatment for
supravalvar aortic stenosis (SVAS).

Children and adolescents with catheter

peak-to-peak (or Doppler mean) gradient
of 50 mm Hg or more should have
surgical intervention similar to what is
indicated for valvular aortic stenosis.
(class I).
• A symptomatic patients who have
developed ST/T-wave changes over the
left precordium on ECG at rest or with
exercise should also be considered for
surgical intervention.
 coartication of the aorta
Coarctation of the aorta occurs in approximately 6% to
8% of patients with congenital heart disease.
As with most left-sided obstructive lesions, coarctation
occurs more commonly in males than in females,
with a male: female ratio ranging from 1.27 to 1.74
Coarctation of the aorta is usually a discrete stenosis
of the upper thoracic aorta at the point of the
insertion of the ductus arteriosus . Most
coarctations, therefore, are properly described as
juxtaductal in location.
• The lesion is most often discrete, but it may
be long segment or tortuous in nature. In
infants, particularly those with associated left
ventricular outflow obstruction or a
ventricular septal defect, there may be
diffuse hypoplasia of the transverse aortic
arch and isthmus proximal to the discrete
coarctation
• Simple coarctation describes coarctation of
the aorta occurring without important
intracardiac lesions, with or without a patent
ductus arteriosus

• The term complex coarctation describes

coarctation with important associated
intracardiac pathology
• A large ventricular septal defect the most
common associated lesion. Ventricular
septal defects associated with
coarctation include the peri-
membranous, muscular, or malalignment
types. A malalignment ventricular septal
defect may occur with posterior deviation
of the conal septum and significant left
ventricular outflow tract obstruction.
• A bicuspid aortic valve occurs in 85% of patients
with coarctation

• Patients with Turner syndrome (XO) frequently

present with coarctation of the aorta and a BAV

• The association of multiple left-sided obstructive

lesions with coarctation has been referred to as
Shone syndrome ( constitutes a challenging
group of lesions when treatment is required in
infancy).
• Coarctation of the aorta is also an important
component of the hypoplastic left heart
syndrome.

• Extracardiac vascular anomalies are present

in many patients with coarctation. The most
important of these anomalies include
variations in the brachiocephalic artery
anatomy, a collateral arterial circulation, and
berry aneurysms of the circle of Willis.
• The clinical presentation of coarctation of the
aorta generally follows one of three patterns:
 An infant with congestive heart failure,
 A child or adolescent with systemic arterial
hypertension,
 A child with a heart murmur.
• When coarctation presents in infancy,
it often presents as a catastrophic
illness. Congestive heart failure and
shock may occur suddenly as the
ductus arteriosus closes.
• A large proportion of these infants have a
complex coarctation, with important
associated lesions such as a ventricular
septal defect or aortic stenosis In an infant
with severe coarctation associated with a
large ventricular septal defect, acute heart
failure, shock, and acidosis often develop
suddenly at approximately 8 to 10 days of
life.
• Multiorgan system failure, particularly renal
failure and/or necrotizing enterocolitis, and
death occur rapidly unless definitive medical
and surgical interventions are provided
immediately
 Physical Examination
• Adult unoperated patients almost present with
systemic arterial hypertension measured in the
upper extremities. A patient with systemic arterial
hypertension should have upper and lower
extremity arterial blood pressures measured on
physical examination.
• A normal patient should have an increase of 5 to
10 mm Hg in systolic blood pressure in the lower
extremities compared with the upper extremities,
absence of this increase or presence of a decrease
in systolic blood pressure in the lower extremities
should prompt further investigation to rule out
coarctation of the aorta.
• Moreover, we strongly recommend
that all patients with systemic
hypertension should have a brachial and
femoral pulse timing and amplitude
evaluation on physical examination; this
can easily be done by palpating the
brachial and femoral pulses
simultaneously.
• Presence of a delay or decrease in
amplitude of the femoral pulse should
prompt further investigation.
• . Auscultation over the left upper back will often
reveal a parascapular systolic or continuous
murmur (depending on the number and degree of
collaterals). Patients with a coexistent BAV will
have an ejection sound and midsystolic murmur at
the apex and base, respectively .

• Characteristic rib notching is often present on

chest x-ray or CT and is indicative of
extensive arterial collateral formation
bypassing the area of coarctation; a
characteristic "3" sign is often also seen on
chest x-ray.
Transthoracic Doppler echocardiography
for initial imaging and hemodynamic
evaluation in suspected aortic coarctation:
Evaluation for coarctation is best done via the
suprasternal notch view and should include
continuous-wave Doppler assessment of the
distal aortic arch and isthmus .
Hemodynamically significant coarctation will have
a typical continuous-wave Doppler profile
demonstrating continuing anterograde flow
tapering off during diastole
• . A 20 mm Hg peak instantaneous
gradient at rest or on provocation with
exercise may be indicative of a significant
coarctation.
• Echocardiography should also be used to
rule out commonly associated lesions
such as BAV and dilation of the ascending
aorta.
•
• Recall that in the presence of an extensive
bypassing collateral network, the systolic and
diastolic gradients are less reliable, and more
accurate anatomic imaging is needed .

• MR and CT angiography of the chest with 3-

dimensional reconstruction clearly demonstrate
the degree and extent of coarctation and
collateral formation
• MR angiogram of a
patient with complete
interruption of the
aorta (white arrow) as
viewed from the
lateral orientation.
Note the extensive
collateral network (*)
of intercostals arteries
bypassing the site of
interruption.
• Untreated, coarctation of the aorta has a
poor natural history. The most common
causes of death In Campbell’s necropsy
study were congestive heart failure (26%),
aortic rupture (21%), bacterial endocarditis
(18%), and intracranial hemorrhage (12%)
Given such a poor prognosis , it is
apparent that intervention is indicated in
virtually all patients with coarctation of the
aorta.
 Characteristic Physical Examination Findings in LVOTO

Mild/mod
stenosis sever stenosis
1-2/6 MSM at LUSB/RUSB may >3/6 late-peaking MSM at LUSB/RUSB
SAS radiate to carotids, non radiating to carotids. LV impulse laterally
sustained/non displaced LV displaced and sustained. Diminished and
impulse. EDM at LLSB in delayed arterial pulses. S4 gallop is
patients with AR. common. EDM at LLSB in patients with
AR.

1-2/6 MSM at LUSB/RUSB may >3/6 late-peaking MSM at LUSB/RUSB

BAV radiate to carotids. ES heard at radiating to carotids. LV impulse laterally
apex/LLSB if age <40 years. Non displaced and sustained. Diminished and
sustained/non displaced LV delayed arterial pulses. No ES. S4 gallop
impulse. EDM at LLSB in is common. EDM at LLSB in patients
patients with AR. with AR.

SVAS 1-2/6 MSM at RUSB often >3/6 late-peaking MSM at RUSB

radiates to carotids. Non radiating to carotids. LV impulse laterally
sustained/non displaced LV displaced and sustained. S4 gallop is
impulse. common.
Aortic Absent or mild brachial to Significantly decreased/absent and
coarc femoral pulse delay. 0-1/6 delayed femoral pulses. >2/6 paraspinal
a-tion
paraspinal MSM may be present. MSM or continuous murmur. Atrophy of
lower extremity musculature compared
with upper extremity.

MSM indicates midsystolic murmur; EDM, early diastolic murmur; AR, aortic
regurgitation; LUSB, left upper sternal border; LLSB, left lower sternal border; RUSB,
right upper sternal border; LV, left ventricle; ES, ejection sound; and S4, fourth heart
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