Congenital Heart Disease

Part 1: Simple Lesions

Carole A. Warnes MD, FRCP, FACC
CVBR

©2017 MFMER | 3645206-1

1
 Question 1
A 25 yr old with Down syndrome residing in a care home comes to
clinic because he is getting more short of breath when he climbs
stairs. In his teens he was quite active, participating in special
Olympics, but admits he is now more “tired”. The caregiver is aware
that a murmur was heard in childhood, but his parents wanted no
intervention.

O/e: O2 sat is 97%, SR, JVP normal, B.P. 125/80. He has an RV lift,
his apical impulse is displaced laterally. He has a 2/6 ejection
systolic murmur in the pulmonary area with a widely split 2nd sound.
At the apex there is a 3/6 holo-systolic murmur. His ECG is shown.

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 QUESTION 1

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 Question 1
Which of the following is the most likely diagnosis ?
1. Secundum ASD
2. Muscular VSD
3. Pulmonary stenosis
4. Ebstein’s anomaly
5. Primum ASD

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 Question 2
Which one of the following is true regarding coarctation
of the aorta ?
1. Usually occurs just proximal to the left subclavian artery
2. After end to end repair, most patients have normal B.P. at
follow - up
3. Ascending aortic aneurysms do not occur if coarctation repair
is performed in the first year of life
4. Dacron patch repair is more commonly associated with
aneurysm formation.
5. Repair before age 14 years is associated with a normal survival

5
 Question 3

A 24 yr old man with a history of heart murmur since childhood

presents for evaluation. o/e his JVP is normal, SR, BP 118/72.
He has a parasternal thrill with a loud holosystolic murmur &
clear lung fields.

His echo shows normal LV size, EF 60% with an echo dropout in

the ventricular septum adjacent to the tricuspid valve through
which the Doppler jet has a velocity of 5 m/sec. He has mild TR,
velocity 2.3 m/sec. Which of the following is true?

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 Question 3

1. He needs a cardiac catheterization to assess

his hemodynamics & degree of shunt
2. He should have repair of his tricuspid valve
3. He should have reassurance, no intervention
and a repeat exam in 5 years
4. He should have surgical closure of his VSD
5. He should be referred to a pulmonary hypertension clinic
for consideration of pulmonary vasodilator therapy

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 Question 4

• A 35 yr old woman with a year of palpitations presents with

atrial fibrillation. On exam she has an RV lift, a 2/6 ESM at the
2nd space LSE , and a diastolic rumble at the lower LSE.

• Her CXR is shown

• The echo shows normal LV, mod enlarged RV, and both atrial
and ventricular septum appear intact. Estimated RV systolic
pressure = 40 mmHg. The pulmonary valve is not well seen.

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 Question 4
What is the most likely diagnosis ?

1. Sinus venosus ASD

2. Pulmonary stenosis
3. Ventricular septal defect
4. Tricuspid stenosis
5. Ebstein’s anomaly

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 Congenital Heart Disease
Part 1: Simple Lesions
Carole A. Warnes MD, FRCP, FACC
CVBR

No disclosures
©2017 MFMER | 3645206-10

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 Learning Objectives

• Describe the anatomy, pathophysiology, clinical presentation,

imaging findings, & management of left to right shunts.
• Describe the anatomy, pathophysiology, clinical presentation of
congenital valve abnormalities including pulmonary stenosis &
Ebstein’s anomaly.
• Describe the anatomy, pathophysiology, clinical presentation &
management of coarctation of the aorta.
• Identify the cardiovascular implications of genetic syndromes

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 ADULT CONGENITAL HEART DISEASE

• Almost 1 / 100 babies born with CHD

• Estimated >1.5 million adults in USA

• More adults than children

• Growth of population about 5% per year

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 Circulation, 2018

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 SECUNDUM ASD

Absence of tissue in region of fossa ovalis

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 SECUNDUM ASD

Signs
• Normal or slightly  JVP
• RV heave
• Ejection systolic murmur PA
• Fixed split 2nd sound
• Tricuspid diastolic flow rumble

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 SECUNDUM ASD
Holt Oram syndrome
Heart - hand
syndrome

Autosomal dominant
Mutation in TBX5
gene
(chromosome 12)

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 SECUNDUM ASD

• ECG Echocardiogram
• RBBB • Diagnosis
BLUE IS BAD !
• PA pressure
• CXR
• Prominent PA
• Pulmonary plethora
• RV enlargement

Pulse oximetry at rest & during exercise is

I recommended for evaluation of ASD to
determine direction & magnitude of shunt

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 SECUNDUM ASD

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 SECUNDUM ASD

Crochetage (notches on the R waves) in inferior limb leads

+ incomplete RBB in V1

Bhattacharayya PA, BMJ 2016

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 SECUNDUM ASD

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 SECUNDUM ASD
Closure of ASD (percutaneously or surgically) is indicated for
RA & RV enlargement with symptoms (Class I)
without symptoms (Class IIa)

As long as no evidence of PVD :

PASp < 50% systemic, PVR < 1/3 SVR
No R to L shunt on pulse oximeter at rest & exercise

Beware: CVA, AF, & pregnancy

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 SECUNDUM ASD

No LA enlargement unless
• Patient > 40 years of age
• Atrial fibrillation

If LA enlarged, think primum ASD

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 SECUNDUM ASD

• Natural history = AF in the 50s

• Closing ASD does not prevent AF

• Earlier ASD is closed, the less

likely to have AF & subsequent CVA

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 SECUNDUM ASD
Outcome after repair

• 123 pt repaired 1956 - 60

• 75% were symptomatic
• Followed for 27-32 yr
• Pt repaired  25 yr had long-term survival
similar to age - matched controls

Murphy et al: N Engl J Med, 1990

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 SECUNDUM ASD
 11 yr 98% 12-24 yr
100 100 97%
Survival (%)

Survival (%)

80 97% 80 93%
60 60
Controls
40 Patients 40
20 P=NS 20 P=NS
n=33 n=29
0 0
0 3 6 9 12 15 18 21 24 27 0 3 6 9 12 15 18 21 24 27

25-41 yr >41 yr
100 91% 100
Survival (%)

Survival (%)

80 80
84% 59%
60 60
40 40
20 P=0.0023 20 P<0.001 40%
n=32 n=25
0 0
0 3 6 9 12 15 18 21 24 27 0 3 6 9 12 15 18 21 24 27
Follow-up (yr) Follow-up (yr)
Redrawn from: Murphy et al: NEJM, 1990

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 SECUNDUM ASD : Closure
Surgical : Direct suture or patch
Sternotomy or inframammary
Devices
GORE CARDIOFORM STARFLEX CARDIOseal

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 Device ASD Closure vs. Controls

All-Cause Mortality Cumulative CV Mortality

Survival probability

1.0 0.2
incident function
Cumulative

Controls
0.9

0.8 0.1
ASD
ASD
0.7
Controls
0.6 0.0
0 2 4 6 8 10 12 14 16 18 20 0 2 4 6 8 10 12 14 16
Survival (Yrs) Survival (Yrs)

Abrahamyan L, JACC Intv 2021

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 Outcomes : Device ASD Closure by Age

All-Cause Survival Cumulative probability Cumulative CV Mortality

1.0 0.2
Survival probability

0.9
0.8
0.7 0.1
0.6
Survival, CV mortality not normal
0.5 Better outcomes if close early
0.4 0.0
0 2 4 6 8 10 12 14 16 18 20 0 2 4 6 8 10 12 14 16
Survival (Yrs) Survival (Yrs)

Age Group (Yrs) < 40 40 - 60 > 60 All

Abrahamyan L, JACC Intv 2021

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 ATRIAL SEPTAL DEFECTS
Sinus venosus
• Superior portion of septum
• Anomalous right upper pulmonary vein

PAPVC Sinus venosus ASD

SVC is posterior to the
fossa ovalis
FO

IVC

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 SINUS VENOSUS ASD

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 SINUS VENOSUS ASD

Sub-costal

Ammash N, JACC 1997

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 If Echo shows RV volume
overload & no ASD, think
anomalous pulmonary veins

Find the shunt:

MRI or TEE

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 Anomalous Pulmonary Veins

RPV Ao Most commonly drain

from right side into
RPV SVC
RA LA LPVs RA
RPV
IVC
IVC

80%
Ammash: JACC, ‘97

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 Anomalous Left Pulmonary Veins

Vertical vein drains

IV veins from left lung
S
V VV into innominate vein
C Ao
and to the SVC
RPA
LPVs Can often be diagnosed
RPVs RA LA from suprasternal
window of TTE or TEE
or MRI

Ammash N, JACC, 1997

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 ATRIAL SEPTAL DEFECTS

Primum ASD (partial A - V canal)

• Inferior portion of septum
• Mitral valve usually cleft
• Association : Down’s syndrome

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 LA
RA

TV

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 PRIMUM ASD (Partial A-V Canal)

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 PRIMUM ASD (Partial A-V Canal)

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 PRIMUM ASD ( Partial AV canal)

Surgical closure with repair of cleft MV

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 RBBB and left axis deviation

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 PRIMUM ASD (Partial A-V Canal)

AX > BX

Distance from apex to aortic valve is increased

cardiac crux to apex is foreshortened, so LVOT
longer & narrower : gooseneck deformity

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 SINUS VENOSUS & PRIMUM ASD

Cannot be closed with a device

Impaired functional capacity

SURGICAL REPAIR Class I
R - sided enlargement

PROVIDED : No cyanosis at rest or exercise &

systolic PAp is < 50% systemic & PVR < 1/3 SVR

BLUE IS BAD !

Stout KK, Circ 2018

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 COMPLETE A – V CANAL

From left ventricle Apical 4 - chamber

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 COMPLETE A-V CANAL

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 VENTRICULAR SEPTAL DEFECT

• Small defect Often benign

• Loud noise, often thrill May close
• Asymptomatic–no Rx spontaneously

• Larger defect Beware AR in outlet

• Mitral diastolic flow rumble (supracristal) VSD’s

• Cause LV enlargement CLOSE **

• Large defect (Eisenmenger)
• No murmur (LVp = RVp)

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 PATENT DUCTUS ARTERIOSUS

PDA

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 PATENT DUCTUS ARTERIOSUS

• Associated with maternal rubella

• F:M = 3:1
• Brisk upstroke pulse : wide pulse pressure
• Dynamic LV
• ? thrill 2nd left space
• Continuous “machinery” murmur: envelops 2nd sound

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 PATENT DUCTUS ARTERIOSUS
Differential diagnosis

• Any A - V fistula (pulmonary / coronary)

• Aorto-pulmonary window
• Ruptured sinus of Valsalva aneurysm
• VSD and AR

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 PDA : Closure (Device or Surgery)

Class I
LA or LV enlargement with net L to R shunt

PA systolic pressure < 50% systemic

& PVR < 1/3 systemic

Stout KK, Circ, 2018

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 PULMONARY STENOSIS
• “a” wave in JVP
• RV heave Murmur louder on inspiration

• Ejection click & murmur

• Soft & late P2 Earlier click,
more severe the stenosis

Click decreases on inspiration

More blood enters RV so moves valve 
so systolic excursion is decreased
RV RV

Expiration Inspiration Hultgren HN, Circ ‘69

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 PULMONARY STENOSIS

Associated with Noonan’s syndrome

Dysplastic valve (maybe no click)

Short stature
Webbed neck, low hairline
Wide spaced eyes
Low set ears

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 PULMONARY STENOSIS

• Mild = Peak gdt < 36 mmHg (peak vel < 3 m/sec)

• Mod = Peak gdt 36 - 64 mmHg (peak vel 3 - 4 m/sec)
• Severe = Peak gdt 64 mmHg (peak vel > 4m/sec), mean > 35 mmHg

• RV failure late (> 50 years) unless associated lesions

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 PULMONARY STENOSIS

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 PS: Balloon Valvotomy

Moderate or severe PS & otherwise unexplained symptoms

I of HF, cyanosis from interatrial R to L shunt, &/or ex intolerance,
balloon valvuloplasty is recommended

Same as above….. but if ineligible for, or who have failed balloon

I valvuloplasty, surgical repair is recommended

IIa In asymptomatic adults with severe PS, intervention is reasonable

Stout KK, Circ 2018

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 PULMONARY STENOSIS
After intervention
Beware the patient > 20 yrs after valvotomy
• Arrhythmias
• RV enlargement
• TR

Look for pulmonary regurgitation

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 COARCTATION OF THE AORTA

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 COARCTATION OF THE AORTA

• Usually just distal to left

subclavian artery

• Hypertension in upper limbs,

hypotension lower limbs

• Collaterals : subclavian,
axillary, internal mammary,
scapular, intercostal A’s

• Common association :
bicuspid aortic valve

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 Coarctation often
associated with
Turner’s syndrome

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 COARCTATION
Physical exam
• Delayed femoral pulses
• Systolic murmur LSE → continuous
• Collateral murmurs
• 4th sound with LVH & hypertension
• Loud A2 if hypertension
• Ejection click ± systolic murmur with BAV (50-75%)

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 COARCTATION

Diagnostic imaging

• CXR
• Figure “3” sign – aortic knob
• Rib notching from intercostal As
• Echo – Doppler
• CT, MRI / MRA
• Angiogram

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 COARCTATION

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 COARCTATION : Aortopathy

50-75% of coarcts

Bicuspid aortic valve Aortic medial changes

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 Bicuspid Aortic Valve
with Aortic Dissection

• Replace aortic root at 5.5 cm.

• Aortic aneurysm / dissection more
likely with both BAV + coarctation
• Image ENTIRE aorta

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 COARCTATION

CP1020208- 31

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 COARCTATION : Indications intervention
• HTN & significant native or recurrent coarctation Class I
What’s significant ?

• Arm / leg peak-to-peak gdt > 20 mmHg

150 mmHg
(or mean Doppler systolic gdt > 20 mmHg)
• Arm / leg gdt > 10 mmHg
(or mean Doppler systolic gdt > 10 mmHg)
+ collateral flow or
130 mmHg
decreased LV fn or AR

All coupled with ANATOMIC evidence forACC/AHA

Stout KK, CoA (CTA or ‘18
Guidelines MR)

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 COARCTATION
Pitfalls

• May have gradient < 20 mmHg

with significant collateral flow
• Echo-Doppler may be inaccurate
• Need anatomic imaging (CT / MR)

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 COARCTATION OF THE AORTA
Balloon and stent placement

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 COARCTATION : Surgical repair

Resection / end-end anastomosis Interposition graft

Clarence Crafoord
Resection coarctation
1944 Dacron patch angioplasty Subclavian flap

Rocchini AP, in Ped CV Med 2000

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 COARCTATION

• High incidence of HTN at follow-up

• 75% at 30 years
• Premature death due to
• Coronary artery disease
• Heart failure
• Stroke
• Aortic dissection or rupture

Earlier age at repair = better survival

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 Survival After Coarctation Repair

588 patients
100 Normals

80 (432) Patients
(259)
Surviving (%)

60 (59)

40
30 year survival = 72%
20 Mean age at death = 38 year

0
0 5 10 15 20 25 30
Follow - up (years)
Cohen M et al: Circ, 1989

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 COARCTATION : Survival by Age at Repair

100

80
 20
Survival (%)

60
Survival better with earlier repair >20
40
Survival still NOT normal
20
P < 0.001
0
0 5 10 15 20 25 30
Follow-up (years)
Brown M, JACC 2013

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 POST- OP COARCTATION : Deaths

Cause of death No. %

CAD 32 37
Sudden death 11 13
Heart failure 8 9
CVA 6 7
Ruptured ao aneurysm 6 7
Subsequent CV surgery 6 7
Other 18 20
Total 87 100

Cohen M et al: Circulation, 1989

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 Post - Operative Coarctation

• Beware re-coarctation
• Echo may underestimate

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 COARCTATION
Patch repair

Cramer J, Ped Cardiol, 2013

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 COARCTATION

• Beware aneurysm at
site of repair
• MOST COMMON
after patch repair
• Periodic imaging mandatory
• 2D - Doppler will miss
aneurysm

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 COARCTATION : Post- Op Problems

21 yr old with coarct repair.

Patch repair Aortic dissection 8 yr later

Cramer J, Ped Cardiol 2013

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 COARCTATION REPAIR
Take home points

• Age at time of repair is predictor of survival.

• Lifelong follow-up : meticulous BP control at rest & exercise. -
blockers
• Image entire aorta (multimodality) : ascending & coarct site
• Screen for CAD (cause of late death) & optimize risk factors
• Offer cranial screening

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 COARCTATION

Intracranial
aneurysm in
up to 10%
patients with
coarctation

Connolly H, Mayo Clinic Proc, 2003

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 EBSTEIN’S ANOMALY

• Inferior displacement of TV :
atrialized RV above, small RV
RA
below

• Variable spectrum
ARV
• 50% have ASD or PFO

• 25% have accessory pathway

RV

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 EBSTEIN’S ANOMALY

Physical exam
• Cool periphery ± cyanosis
• JVP – “v” wave ±
• RV lift (subtle)
• Loud T1
• Holosystolic murmur,  inspiration
• Click (s)

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 EBSTEIN’S ANOMALY

ECG

• RBBB 75 - 95%
• Pre-excitation
• Tall P waves
• Prolonged P - R interval
• Atrial fibrillation or flutter

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 EBSTEIN’S ANOMALY

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 EBSTEIN’S ANOMALY

Indications for repair

•  exercise capacity
• Cyanosis (risk of stroke)
• Severe TR (especially if valve repairable)
• Severe RV enlargement with onset of dysfunction

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 CHD & GENETIC SYNDROMES

Learning objectives : Identify the CV implications of genetic syndromes

• Holt-Oram syndrome: Secundum ASD

• Down syndrome: AV septal defects
• Noonan syndrome: Pulmonary stenosis
• Turner syndrome: Coarctation of aorta

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 PEARLS

• If RV enlarged : find the shunt (NOT PS)

• Secundum ASD: RV enlarged → close (device or surgery)

• Other ASD’s (venosus, primum) need surgical closure

• VSD: LV enlarged → close
• Severe PS ( > 64 mmHg ) : balloon. Ejection click is ONLY
right-sided sound which DECREASES on inspiration
• Coarctation: intervention > 20 mmHg (with caveats) –
image entire aorta

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 Questions and discussion

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 Question 1
A 25 yr old with Down syndrome residing in a care home comes to
clinic because he is getting more short of breath when he climbs
stairs. In his teens he was quite active, participating in special
Olympics, but admits he is now more “tired”. The caregiver is aware
that a murmur was heard in childhood, but his parents wanted no
intervention.

O/e: O2 sat is 97%, SR, JVP normal, B.P. 125/80. He has an RV lift,
his apical impulse is displaced laterally. He has a 2/6 ejection
systolic murmur in the pulmonary area with a widely split 2nd sound.
At the apex there is a 3/6 holo-systolic murmur. His ECG is shown.

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 QUESTION 1

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 Question 1
Which of the following is the most likely diagnosis ?
1. Secundum ASD
2. Muscular VSD
3. Pulmonary stenosis
4. Ebstein’s anomaly
5. Primum ASD

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 Question 2
Which one of the following is true regarding coarctation
of the aorta ?
1. Usually occurs just proximal to the left subclavian artery
2. After end to end repair, most patients have normal B.P. at
follow - up
3. Ascending aortic aneurysms do not occur if coarctation repair
is performed in the first year of life
4. Dacron patch repair is more commonly associated with
aneurysm formation.
5. Repair before age 14 years is associated with a normal survival

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 Question 3

A 24 yr old man with a history of heart murmur since childhood

presents for evaluation. o/e his JVP is normal, SR, BP 118/72.
He has a parasternal thrill with a loud holosystolic murmur &
clear lung fields.

His echo shows normal LV size, EF 60% with an echo dropout in

the ventricular septum adjacent to the tricuspid valve through
which the Doppler jet has a velocity of 5 m/sec. He has mild TR,
velocity 2.3 m/sec. Which of the following is true?

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 Question 3

1. He needs a cardiac catheterization to assess

his hemodynamics & degree of shunt
2. He should have repair of his tricuspid valve
3. He should have reassurance, no intervention
and a repeat exam in 5 years
4. He should have surgical closure of his VSD
5. He should be referred to a pulmonary hypertension clinic
for consideration of pulmonary vasodilator therapy

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 Question 4

• A 35 yr old woman with a year of palpitations presents with

atrial fibrillation. On exam she has an RV lift, a 2/6 ESM at the
2nd space LSE , and a diastolic rumble at the lower LSE.

• Her CXR is shown

• The echo shows normal LV, mod enlarged RV, and both atrial
and ventricular septum appear intact. Estimated RV systolic
pressure = 40 mmHg. The pulmonary valve is not well seen.

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 Question 4
What is the most likely diagnosis ?

1. Sinus venosus ASD

2. Pulmonary stenosis
3. Ventricular septal defect
4. Tricuspid stenosis
5. Ebstein’s anomaly

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