MRCPCH 1: Essential Questions in Paediatrics - PasTest

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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.
CARDIOLOGY – ANSWERS 11Innocent murmurs all relate to a structurally normal heart and it is clearlyimportant to reassure the parents that their child’s heart is normal. Types ofinnocent murmur include those caused by increased flow across the branchpulmonary artery, Still’s murmur, and venous hums. The murmur should besoft (no thrill), systolic (diastolic murmurs are not innocent) and short, neverpansystolic. The child is always asymptomatic. The murmur may changewith posture, as in venous hums.1.13 A: Pompe diseasePompe disease is a glycogen storage disorder that can affect the heart. Itresults in an autosomal recessive hypertrophic cardiomyopathy, and is rare.Glycogen accumulates in skeletal muscle, the tongue and diaphragm, andthe liver. The heart enlarges as glycogen is deposited in the ventricularmuscle. It is a progressive disease. The ECG reveals a short P–R interval withgiant QRS complexes. Chest radiography shows an enlarged heart andoften congested lung fields. Treatment is largely supportive.EMQ Answers1.14 Surgical procedures in paediatric cardiology1. D: Norwood procedureThe Norwood procedure is used to palliate hypoplastic left heart syndrome.It is performed when the infant is aged 3–5 days. The right ventricle isintended to pump blood to the body, so the pulmonary artery is sewn ontothe aorta. The atrial septum is excised so that pulmonary venous blood canreturn to the right ventricle and, to ensure adequate pulmonary blood flow,either a Blalock–Taussig shunt is inserted or a conduit is constructed fromthe right ventricle to the pulmonary arteries. As there is a small leftventricle, there is little voltage from this chamber.2. C: Fontan procedureThe Fontan operation is a palliative procedure and is usually performedwhen the patient is 3–5 years of age. A channel is inserted to drain bloodfrom the inferior vena cava to the right pulmonary artery. Bluedeoxygenated blood then flows directly to the lungs and bypasses theheart. The oxygenated blood comes back from the lungs and is pumped bythe ventricle to the body.
Page 2 and 3: ContentsContributorsIntroduction1.
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Page 10 and 11: 8CARDIOLOGY - ANSWERSas coarctation
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