Disease Pathophysiology Feature Investigation Poor prognostic Management

factor
HOCM  Autosomal Dominant  Asymptomatic ECHO -MR SAM ASH  Syncope ABCDE
 Mutation in b myocin  Dyspnea, angina,  Mitral regurgitation  Young age  Amiodarone
heavy chain proteins syncope,palpitation  Systolic anterior  Family hx  B blocker
or myocin binding  Sudden death (vent motion of anterior  Non  Cardioverter defib
protein c arrthymias) HF mitral valve leaflet sustained VT  Dual chamber
 Jerky pulse  Asymmetric  Abnormal bp pacemaker
 Large a wave hypertrophy changes on  Endocarditis
 Double apex beat ECG exercise prophylaxis
MURMUR -  RBBB
EJECTION SYSTOLIC  Prolonged PR DRUGS TO AVOID
MURMUR – inc  Non specific t  Nitrates
with Valsalva and wave  inotropics
dec with squatting abnormality  Ace inhibitors
ASSOCIATION  LVH  Verapamil ( if
 Friedreich ataxia  Deep Q wave coexistant WPW)
 WPW  Occ AF
SCREENING – RESTING
ECG & TTE
ARVC  2nd MC SCD  Palpitation ECG – V1-V3 typical t  Beta blockers (sotalol)
 Autosomal dominant  Syncope wave inversions  Catheter ablation
 RV replaced my  SCD Epsilon wave  Implantable
Fibrous tissue cardioverter defib
NAXON DISEASE ECHO- hypokinetic RV
 Autosomal recessive with a thin free wall
 Triad : ARVC + palmo MRI – fibrofatty tissue
plantar keratosis +
woolly hair
CPVT  Autosomal dominant  Exercise and  B blocker
 Defect in Ryanodine emotion induced  ICD
receptor in polymorphic VT ->
myocardial syncope
sarcoplasmic  SCD
reticulum  Symptoms before
age 20
BRUGADA  Autosomal  Syncope and ECG – ICD
Syndrome dominant SCD at rest or  Convex ST elevation
 Asians during sleep V1-V3
 Mutation in  3-4 decade of  Complete or
SCN5A – life incomplete RBBB
myocardial  Changes prominent
sodium channel following flecanide
protein
 No structural IV Ajmaline with
abnormality Electrophysiological
study testing
Valvular Heart Causes Features MURMUR Signs Management
Disease
Aortic stenosis  Degenerative calcification (older Low cardiac output  Ejection  Narrow pulse  Asymptomatic – observe
(systolic) – patients >65) symptoms systolic pressure  Symptomatic – valve
increased  Bicuspid aortic valve (younger  chest pain – rise in LVEDP murmur  Small vol replacement
afterload <65)  dyspnea, (decrescendo pulse  Asymptomatic but
 Congenital : willams syndrome  syncope, ) radiating to  Slow rising valvular gradient >50
 Post rheumatic disease  episodes of pul edema carotid area pulse mmhg + LVSD – surgery
 Subvalvular : HOCM  LHF and axilla  Delayed ESM  Ballon valvuloplasty -
 decrease  Soft/absent critical aortic stenosis
d S2  transcatheter AVR
following  In severe AS - (TAVR) is used for
the Valsal > reversed patients with a high
va split of S2 operative risk
manoeuvr  S4
e  Thrill

Aortic Causes of AR due to valve  Early  collapsing  medical

Regurgitation disease: diastolic pulse management of any
(Diastolic murmur:  wide pulse associated heart
murmur ) - Chronic intensity of pressure – failure
increased the water  surgery: aortic valve
preload ,stroke vol  rheumatic fever: the most murmur is hammer indications include
Chronic ->Increase common cause in the increased pulse o symptomatic
afterload developing world by  Quincke's patients with
 calcific valve disease the handgr sign severe AR
 connective tissue diseases ip (nailbed o asymptomatic
e.g. rheumatoid manoeuvre pulsation) patients with
arthritis/SLE  mid-  De severe AR who
 bicuspid aortic valve diastolic Musset's have LV
(affects both the valves Austin- sign (head systolic
 and the aortic root) Flint bobbing) dysfunction
murmur in
Acute : infective Endocarditis severe AR -
due to
Causes of AR due to aortic partial
root disease closure of
the
 bicuspid aortic valve (affects both anterior
the valves and the aortic root) mitral
 spondylarthropathies (e.g. valve
ankylosing spondylitis) cusps
 hypertension caused by
 tertiary syphilis the
regurgitati
 Marfan's, Ehler-Danlos syndrome on streams

Acute : Aortic dissection

Mitral  rheumatic fever  dyspnoea : ↑ left  mid-late  loud S1  patients with
Stenosis(diastolic)-  mucopolysaccharidoses, atrial pressure → diastolic  opening snap associated atrial
decreased preload  carcinoid pulmonary venous rumbling fibrillation require
 endocardial fibroelastosis hypertension murmur indicates mitral anticoagulation
 haemoptysis : due to (best heard valve leaflets are
pulmonary in still mobile asymptomatic
pressures and expiration) patients
vascular congestion  low volume
pulse  monitored with
Features of severe  malar flush regular
MS  atrial echocardiograms
 percutaneous/
fibrillation :
surgical
secondary to ↑
 length of murmur management is
left atrial
 pressure → left generally not
increases atrial recommended
 opening snap enlargement
becomes closer to symptomatic
S2 patients

 percutaneous
mitral balloon
valvotomy
 mitral valve
surgery
(commissurotomy
, or valve
replacement)

Mitral  Following coronary artery Fatigue, shortness of Holosystolic

Regurgitation disease or post-MI breath and oedema murmur best
(Systolic)  Mitral valve heard at apex
prolapse(primary MR )
 Infective endocarditis
 Rheumatic fever:
 Congenital – cleft mitral
valve , endocardial
cushion defect , down
syndrome

Tricuspid  right ventricular infarction  pan-systolic prominent/giant

 pulmonary hypertension e.g.
regurgitation COPD murmur V waves in JVP
 rheumatic heart disease  pulsatile
 infective endocarditis
hepatomegaly
(especially intravenous drug
users)  left parasternal
 Ebstein's anomaly
  carcinoid syndrome heave

Medication MOA Indication Side effects

Loop  inhibiting the  heart failure
diuretics Na-K-Cl  resistant hypertension, particularly in
cotransporter patients with renal impairment
(NKCC) in the
thick ascending
limb of the loop
of Henle ->
reducing the
absorption of
NaCl.
Thiazide  inhibiting  mild heart failure  dehydration
diuretics sodium  hypertension  postural hypotension
reabsorption at  hypokalaemia
the beginning of o due to increased delivery
the distal of sodium to the distal
convoluted part of the distal
tubule (DCT) by convoluted tubule →
blocking the increased sodium
thiazide- reabsorption in exchange
sensitive Na+- for potassium and
Clˆ’ symporter. hydrogen ions
 hyponatraemia
 hypercalcaemia
o the flip side of this
is hypocalciuria, which
may be useful in reducing
the incidence of renal
stones
 gout
  impaired glucose tolerance
 impotence

Rare adverse effects

 thrombocytopaenia
 agranulocytosis
 photosensitivity rash
 pancreatitis
DRUG MOA SIDE EFFECTS
Adenosine  terminate supraventric  chest pain
ular tachycardias.  bronchospasm
 causes transient heart  transient flushing
block in the AV node  can enhance conduction down
 agonist of the A1 accessory pathways, resulting
receptor in the in increased ventricular rate
atrioventricular node, (e.g. WPW syndrome)
 very short half-life of
about 8-10 seconds
Adenosine  Main target of ADP  ticagrelor may cause dyspnoea  A drug interaction
diphosphate receptor inhibition is o due to the impaired exists between
(ADP) receptor the P2Y12 receptor, clearance of adenosine clopidogrel and proton
inhibitors – as it is the one pump inhibitors,
Clopidogrel ,Prasu which leads to particularly
grel, sustained platelet omeprazole and
Ticagrelor ,Ticlopi aggregation and esomeprazole, leading
dine stabilisation of the to reducing
platelet plaque. antiplatelet effects.

Amiodarone  class III  thyroid dysfunction: The use of amiodarone is

antiarrhythmic both hypothyroidism and hy limited by a number of
agent per-thyroidism factors
 blocking potassium  corneal deposits
channels which  pulmonary
inhibits fibrosis/pneumonitis  very long half-life (20-
repolarisation and  liver fibrosis/hepatitis 100 days). For this
hence prolongs the  peripheral neuropathy, reason, loading
action potential. myopathy doses are frequently
 other actions such  photosensitivity used
as blocking sodium  'slate-grey' appearance  should ideally be
channels (a class I  thrombophlebitis and given into central
effect) injection site reactions veins
 bradycardia (causes thrombophleb
 lengths QT interval itis)
 has proarrhythmic
effects due to
lengthening of the QT
interval
 interacts with drugs
commonly used
concurrently (p450
inhibitor) e.g.
Decreases
metabolism of
warfarin
 numerous long-term
adverse effects (see
below)

Monitoring of patients
taking amiodarone

 TFT, LFT, U&E, CXR

prior to treatment
 TFT, LFT every 6
months

Cyanotic HD Age of presentation features Management
TOF  presents at  ventricular septal defect (VSD)  surgical repair is often
around 1-2  right ventricular hypertrophy undertaken in two parts
months  right ventricular outflow tract  cyanotic episodes may be
 not be picked up obstruction, pulmonary stenosis helped by beta-blockers to
until the baby is 6  overriding aorta reduce infundibular spasm
months old
other features
 cyanosis
 causes a right-to-left shunt
 ejection systolic murmur due to
pulmonary stenosis (the VSD doesn't
usually cause a murmur)
 a right-sided aortic arch is seen in 25% of
patients
 chest x-ray shows a 'boot-shaped' heart,
ECG shows right ventricular hypertrophy

TPGA  failure of the  aorta leaves the right  maintenance of the

aorticopulmon ventricle ductus arteriosus
ary septum to  pulmonary trunk leaves the with prostaglandins
spiral during left ventricle  surgical correction
septation. is the definite
 Children of  cyanosis treatment.
diabetic  tachypnoea
mothers are at  loud single S2
an increased  prominent right ventricular impulse
risk  'egg-on-side' appearance on chest x-ray

Acyanotic HD
 Left to Right shunt
VSD close spontaneously in  failure to thrive  small VSDs that are asymptomatic
around 50%  features of heart failure often close spontaneously and
 Aetiology simply require monitoring
congenital VSDs are  hepatomegaly  moderate to large VSDs usually
often association  tachypnoea result in a degree of heart failure in
with chromosomal  tachycardia the first few months
disorders  pallor o nutritional support
o medication for heart failure
o Down's  classically a pan-systolic e.g. diuretics
syndrome murmur which is louder in o surgical closure of the defect
o Edward's
smaller defects
syndrome Complications
o Patau
syndrome
o cri-du-chat  aortic regurgitation
syndrome o aortic regurgitation is due to a
 congenital infections poorly supported right
 acquired causes coronary cusp resulting in cusp
o post- prolapse
myocardial  infective endocarditis
infarction  Eisenmenger's complex
o due to prolonged pulmonary
VSDs may be detected in hypertension from the left-to-
utero during the routine 20 right shunt
week scan o results in right ventricular
hypertrophy and increased
right ventricular pressure. This
eventually exceeds the left
ventricular pressure resulting
in a reversal of blood flow
 o this in turn results in cyanosis
and clubbing
o Eisenmenger's complex is an
indication for a heart-lung
transplant
 right heart failure
 pulmonary hypertension
o pregnancy is contraindicated
in women with pulmonary
hypertension as it carries a 30-
50% risk of mortality

PDA  connection between  left subclavicular  indomethacin or ibuprofen

the pulmonary trunk thrill o given to the neonate
and descending  continuous o inhibits prostaglandin
aorta 'machinery' synthesis
 common in murmur o closes the connection in the
premature babies,  large volume, majority of cases
born at high altitude bounding,  if associated with another congenital
or maternal rubella collapsing pulse heart defect amenable to surgery
infection in the first  wide pulse then prostaglandin E1 is useful to
trimester pressure keep the duct open until after
 heaving apex beat surgical repair

ASD  Two types of ASDs  ejection systolic murmur, 

are recognised, fixed splitting of S2
ostium secundum  embolism may pass from
and ostium primum. venous system to left side of
heart causing a stroke
 Ostium secundum (70%
of ASDs)

 associated with
Holt-Oram
syndrome (tri-
phalangeal
thumbs)
 ECG: RBBB with
RAD

Ostium primum

 present earlier
than ostium
secundum defects
 associated with
abnormal AV
valves
 ECG: RBBB with
LAD, prolonged PR
interval

OUTFLOW OBSTRUCTION
Coarctation of  congenital narrowing  infancy: heart 
of the descending failure
Aorta aorta.  adult: hypertensio
 more common in n
males  radio-femoral
delay
Associations  mid systolic
murmur, maximal
over the back
 Turner's syndrome  apical click from
 bicuspid aortic valve the aortic valve
 berry aneurysms  notching of the
 neurofibromatosis inferior border of
the ribs (due to
collateral vessels)
is not seen in
young children