Cardiomyopathies in children — branching viva

Station opening

Examiner: "Define the paediatric cardiomyopathy and reproduce the morphological classification." [2]

Strong candidate (must-hit)

• Defines a cardiomyopathy as an intrinsic disease of myocardial structure or function, distinct from secondary hypertensive, valvular, or congenital disease, citing the 2006 AHA and 2008 ESC definitions; reproduces the five morphological types (dilated, hypertrophic, restrictive, left ventricular non-compaction, arrhythmogenic) with their echo hallmarks and approximate shares; explains that morphology is the bedside frame that drives the differential, the symptoms, and the complication to watch for, with the genotype layered on top to refine risk and family screening. [2]

Weak candidate

• "A cardiomyopathy is a big heart." [2]

Branch A — The 14-year-old runner who collapsed

Examiner: "A 14-year-old runner collapses during a race; his father died suddenly at 38. What is the likely diagnosis, how do you investigate and risk-stratify him, and what intervention is proven to reduce sudden death?" [4] [5]

Strong

• Diagnoses hypertrophic cardiomyopathy with exertional syncope and a high-risk family history; orders ECG (almost always abnormal in HCM), echocardiography (wall thickness, LVOT gradient, systolic and diastolic function), Holter (non-sustained VT), exercise test (BP response), cardiac MRI (late enhancement), and a cardiomyopathy gene panel; integrates these into a sudden-death risk estimate; for a high-risk child offers an implantable cardioverter-defibrillator, the intervention proven to reduce sudden death in HCM (Maron), weighing the burden of inappropriate shocks; restricts from competitive sport; and screens the family. [4] [5] [9]

Weak

• "Reassure him it was a faint and let him resume running." [4]

Branch B — The three-month-old in heart failure with a fast heart rate

Examiner: "A three-month-old in heart failure has a dilated LV with an EF of 28 percent and a sustained heart rate of 230. What is the diagnosis, what reversible cause must you exclude, and what is your immediate management?" [7] [8]

Strong

• Diagnoses dilated cardiomyopathy with systolic heart failure; names tachycardiomyopathy from an incessant supraventricular tachycardia as the reversible cause that must be excluded with a rhythm strip and a 12-lead ECG, because it recovers fully with rate or rhythm control; excludes myocarditis, thyroid disease, and anaemia; starts a bridge with a loop diuretic (furosemide 1 to 2 mg/kg/day), an ACE inhibitor, and once stable a beta-blocker and MRA with caloric support; cites the Shaddy carvedilol trial's negative result in children and explains that non-response is the signal to move to transplant assessment. [7] [8]

Weak

• "Give high-flow oxygen and a fluid bolus and start carvedilol, confident it will help." [7]

Branch C — The well, genotype-positive, phenotype-negative sibling

Examiner: "The eight-year-old sibling of the HCM patient above carries the family's pathogenic variant but has a normal echocardiogram. What is your management?" [4]

Strong

• Explains that a genotype-positive phenotype-negative first-degree relative is not 'reassured and discharged' but placed on structured lifelong surveillance, because the phenotype can emerge at any age; sets the surveillance interval by the gene, the age, and the family phenotype; contrasts this with a genotype-negative relative of a genotype-positive proband, who can usually be released from surveillance — one of the great practical benefits of genetic testing. [4]

Weak

• "The echo is normal, so the family can stop worrying and be discharged." [4]

Branch D — The nine-year-old with restrictive physiology and giant atria

Examiner: "A nine-year-old has restrictive cardiomyopathy with biventricular inflow obstruction, giant atria, hepatomegaly, and exertional symptoms. What is the prognosis and what is your management?" [8]

Strong

• States that restrictive cardiomyopathy has the worst prognosis of all the cardiomyopathy types, with high rates of both sudden death and transplant; explains that management demands early referral for transplant assessment rather than prolonged medical therapy, because delaying transplant is a recognised pitfall; looks for infiltrative and storage disease, some of which are treatable; and manages the child in a tertiary inherited cardiac conditions service with heart-failure and transplant access. [8]

Weak

• "Treat with diuretics and review in a year." [8]

Close

Examiner: "Summarise your approach to the child with a cardiomyopathy in one sentence." [2] [9]

Strong

• "A paediatric cardiomyopathy is an intrinsic myocardial disease classified morphologically into dilated, hypertrophic, restrictive, non-compaction, and arrhythmogenic types: I confirm and stage it with echocardiography, ECG, cardiac MRI, Holter, and a gene panel; I manage dilated along a heart-failure lane ending in transplant (noting the negative Shaddy carvedilol trial), hypertrophic and arrhythmogenic along a sudden-death lane with risk stratification and an implantable defibrillator (Maron), and symptomatic LVOT obstruction with beta-blocker, disopyramide, or surgical myectomy; I screen every first-degree relative by cascade genetic and clinical testing and place genotype-positive phenotype-negative relatives on lifelong surveillance; and I counsel the family that the whole strategy is to prevent sudden cardiac death and to transplant in time for end-stage disease." [2] [9]