MRCPCH 1: Essential Questions in Paediatrics - PasTest

4CARDIOLOGY – QUESTIONS1.12 A 2-year-old boy presents with a murmur, heard in both systoleand diastole at the upper sternal edge, which disappears on lyingdown. Physical examination is otherwise normal. He is a well,asymptomatic child and there are no signs of cardiac failure. Youare told that his second cousin had a small ventricular septaldefect, which closed spontaneously, and that his uncle had aheart attack aged 45. What do you consider to be the BESTmanagement plan? A Refer for echocardiography and specialist opinion from a consultantpaediatric cardiologist B Perform an ECG, chest X-ray and oxygen saturations, and then referfor echocardiography C Refer for genetic counselling and, possibly, gene-mapping studies D Reassure them that the murmur is innocent E Say that you suspect the murmur is caused by a persistent arterialduct, which should be coil-occluded to avoid the development ofheart failure in the future1.13 You are asked to review a 4-month-old girl in clinic. Her ECGshows a short P–R interval and giant QRS complexes.Echocardiography reveals evidence of hypertrophiccardiomyopathy. What is the MOST likely diagnosis? A Pompe disease B Lown–Ganong–Levine syndrome C Hurler syndrome D Noonan syndrome E Wolff–Parkinson–White syndrome