MRCPCH 1: Essential Questions in Paediatrics - PasTest

10CARDIOLOGY – ANSWERS1.9 C: Alagille syndromeAlagille syndrome is a genetic defect of the JAG-1 gene in 70% of cases.Features include peripheral pulmonary artery stenosis, a prominentforehead, wide-apart eyes, small chin, butterfly vertebrae, intrahepaticbiliary hypoplasia, embryotoxon (slit lamp for cornea), and renal andgrowth abnormalities. Posterior embryotoxon occurs when there is aprominent Schwalbe’s line visible just inside the temporal limbus. It occursin approximately 15% of normal eyes and is visible through a clear corneaas a sharply defined, concentric white line or opacity anterior to the limbus.Williams syndrome is due to a 1.5-Mb deletion on chromosome 7 and leadsto typical facial features, behavioural abnormalities and cardiac features ofsupravalvar aortic stenosis and branch pulmonary artery stenosis. DiGeorgesyndrome is associated with conotruncal defects (tetralogy of Fallot,common arterial trunk and interrupted aortic arch), typical facial features,cleft palate, absent thymus and absent parathyroids. Noonan syndrome isassociated with mutations in PTPN11, SOS1, KRAS or RAF1 genes, withcardiac features of hypertrophic cardiomyopathy, atrial septal defect,pulmonary stenosis and pulmonary hypertension.1.10 D: Pulmonary stenosisThose children with left-to-right shunts have no signs or symptoms on thefirst day of life. However, those with outflow obstruction have a murmurfrom birth. Pulmonary stenosis usually causes no cyanosis, and all neonateshave a dominant right ventricle, thus revealing no evidence of rightventricular hypertrophy.1.11 D: Ebstein anomalyEbstein anomaly is signified by an abnormal and regurgitant tricuspidvalve, which is set further down into the right ventricle than normal. Theaffected child will be cyanosed at birth, with a pansystolic murmur oftricuspid regurgitation at the lower sternal edge. This congenital heartcondition has been associated with maternal ingestion of lithium.1.12 D: Reassure them that the murmur is innocentThis is typical of a venous hum, an innocent heart murmur. It may be easy tohear the venous blood flow returning to the heart, especially at the uppersternal edge. This characteristically occurs in both systole and diastole, anddisappears when the child lies flat. Innocent murmurs are the most commonmurmurs heard in children, occurring in up to 50% of normal children. Theyare often discovered in children with a co-existing infection or with anaemia.