1. Acyanotic Heart Disease
Left to Right Shunt:As heartcontracts bloodflowsfromlefttoright,solessissentaroundthe body,solessbloodcirculatinghoweverthe bloodis
oxygenated.
EisenmengersSyndrome:Reversal of L-RshuntintoR-L.Typically due tochronic VSDor PDA whichresultsinpulmonaryhypertensionandincreasedRheart
pressure.
Defect Explanation AssociatedSyndromes Presentation Examination Management
Atrial Septal
Defect- 7%
Secund
um
Hole between
rightand left
atrium,from
foramenovale
Trisomy21, HoltOram,
Elliscan Creveld,Ebstein's
Anomlay,Foetal alcohol
syndrome,Lutembacher
syndrome
Oftenasymptomatic,may
presentasadultswith
congestive cardiacfailure,
recurrentchestinfections,
palpitations.Maybe pickedup
on antenatal scan
EjectionSystolicMurmur,Split
secondheartsound
ECG: RBBB, RAD
Cardiac
Catheterisation
Partial Involvesbottom
of the septum
and valves
EjectionSystolicMurmur,Split
secondheartsound
ECG: LAD, SuperiorQRS
Surgeryat 3-5
years
Atrioventricularseptal
defect
All 4 chamber
of the heartcan
communicate
Trisomy21,18, Ivermark
Syndrome,Foetal alcohol
sydrome,Noonan
SOB,CyanosisandHF EjectionsystolicMurmur
Loud splitsecondheartsound
ECG: LAD, incomplete RBBB
Surgeryat 3-
6months
VentricularSeptal
Defects-30%
Communication
betweenLeft
and Right
ventricle
Tetralogyof Fallot,
Trisomy21,18,13
Fewweekspostbirth:
Tachycardia,Tachypnea,HF,
SoB,Falteringgrowth,
recurrentchestinfectiond,
hepatomegaly
PansystolicmurmurLsternal
edge.Thrill and?Heave
Conservative.
Diuretics.Surgery
at 3-6 months
PersistantDuctus
Arteriosus- 12%
Persistence of
linkbetween
pulmonary
arteryand
aorta
Tetralogyof fallot,
HypoplasticLheart,
PulmonaryAtresia,
Prematurity,Trisomy
18,21, Rubella
In firstyearof life: Hypoxia,
IncreasedWOB,HF, Pulmonary
HTN, collapsing/boundingpulse
Loud continuousmurmur Closure at 1 year

2. Outflowobstruction:Increasedpressure forbloodleavingrightventricle,resultsinlowperfusionpressurestobodyandbackflowtothe lungs.
Defect Explanation Associated
Syndromes
Presentation Examination Management
Coarctationof
the aorta - 7%
Diffuse
hypoplasia/narrowingof
aorta from brachiocephalic
arteryto ductus arteriosus,
bloodsupplyviaPDA
Turners, Shone
syndrome,
PHACE.Also
associatedwith
bicuspidaortic
valve.
Collapse at3days - when
PDA closesdue to increased
afterload,Radiofemoral
delayandBP discrepancy.
Hypertension,Poorfeeding,
lethargy, Increasedworkof
breathing,failuretothrive,
syncope,dizziness
EjectionSystolicMurmur
X-ray:3 signof aorta
ECG: RBBB, RVH,later
LVH
Prostaglandins
Diureticsand
Inotropes
Antihypertensives
Surgical stent
AorticStenosis -
5%
Williams
Syndrome,
BicuspidAortic
Valve,Heyde's
Asymptomatic.Typically
presentat10-20yrs.
Fatigue,SOB,Collapse.
Slowrisingpulse with
narrow pulse pressure.If
untreatedat6months:
Associated HF.
Crescendodecrescendo
Ejectionsystolic
murmur, hear at
carotids.
BalloonDilatation
Pulmonary
Stenosis- 7%
Noonan's.May
alsohave severe
ASD/VSD
Asymptomatic.Fatigue Mid systolicSystolic
Murmur.
SplitS2 sound
BalloonDilatation
HypoplasticLeft
Heart Syndrome
UnderdevelopedLheart.
Bloodfromlungreturnsto
R heart (mixedwithvenous
blood) andpulmonary
arteryand thengoesvia
PDA to aorta
Severe dyspnoeaandlater
cyanosis
Prostaglandinsand
Surgery

3. Syndromes
DiGeorge syndrome (22q11): Congenital heart disease (tetralogy of Fallot), Abnormal Facies, Thymic Aplasia, Cleft Palate, Hypocalcaemia/Hyperparathyro dism (CATCH)
Ebsteins anomaly: Displacement of tricuspid valve towards apex - regurg. Results in large R atrium and small R ventrricle.
Ellis Van Creveld Syndrome: Autosomal recessive, associated with inbreeding and Amish. ASD, and limb deformities.
Foetal Alcohol Syndrome: Due to high alcohol consumption during pregnancy. Poor growth, facial features, CNS damage and ASD.
Foetal Rubella Syndrome: Due to pregnant women contractingrubella in firsttrimester.Deafness, Visual Problems (retinopathy and cataract) and Congeintal HeartDisease
( pulmonary stenosis and PDA).
Heyde's Syndrome: Aortic stenosis and GI haemorrhage.
Holt Oram: Autosomal dominant with limb and heart defects.
Ivermark Syndrome: Heterotaxy syndrome with asplenia and cardiac defects.
Lutembacher's Syndrome: Secundum ASD and Mitral stenosis.
Noonan syndrome: Autosomal Dominant. PTPN11. Polyhydramnios, webbed neck, Facial features, Cardiac defects (pulmonary stenosis/dysplasia, hypertrophic
cardiomyopathy) and learning difficulties.
Phace Syndrome: Posterior fossa malformations, Hemangiomas,Arterial anomalies, Cardiac defects, Eye abnormalities, Sternal cleft and supraumbilical raphe syndrome.
Shone Syndrome: Congenital heart disease - coarctation, aortic stenosis, parachute mitral valve and supravalvar mitral membrane.
Tetralogy of Fallot: Right ventricular outflow tract obstruction, VSD, Overriding aorta, and R ventricle hypertrophy.
Trisomy 13 (Patau Syndrome): Heart defects, severe learning difficulty, close set eyes, decreased muscle tone, etc. Single umbilical artery? High mortality!
Trisomy 18 (Edwards Syndrome): Heart defects, Kidney and GI problems, Polyhydraminos. High chance of still birth
Trisomy 21(Down's Syndrome): Heart defects, hypotonia, facial features, duodenal atresia.
Turners Syndrome (XO): Short stature, Infertility and Coarctation of aorta
VACTERL: Unknown cause, associated with Trisomy 18 and Diabetics Mothers. Vertebral anomalies, Anal atresia, Cardiac defects(VSD/ASD/Tetralogy of Fallot),
Tracheoesophageal fistula and/or Esophageal atresia,Renal & Radial anomalies and Limb defects.
Williams Syndrome: Abnormal chromosome 7. Cardiac defects, developmental delay, Elfin features. hypercalcaemia, hypertelorism, sociable.