Congenital Acyanotic Heart Disease
- 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.