Stable angina — EECC MCQ

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HardExercise PrescriptionStable anginaEECC

A teenage boy has severe concentric LV hypertrophy, ventricular pre-excitation, proximal muscle weakness, cognitive impairment and markedly raised creatine kinase. His mother has mild hypertrophy. Which diagnosis best integrates the phenotype?

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Correct answer: C — LAMP2-related Danon disease with skeletal myopathy

The best answer is “LAMP2-related Danon disease with skeletal myopathy”. Danon disease is an X-linked lysosomal disorder causing severe early cardiomyopathy, pre-excitation, skeletal myopathy and cognitive features, often with milder disease in women. “Sarcomeric hypertrophic cardiomyopathy with pre-excitation” is less appropriate because isolated sarcomeric HCM does not explain the syndromic neuromuscular phenotype “Transthyretin amyloid cardiomyopathy with neuropathy” is less appropriate because wild-type ATTR occurs later and does not cause this X-linked childhood syndrome “PRKAG2 glycogen-storage cardiomyopathy with pre-excitation” is less appropriate because hypertension cannot account for pre-excitation and muscular disease “Anderson–Fabry disease with renal involvement” is less appropriate because Fabry disease has different characteristic systemic manifestations and typically not this triad

Reference: 2023 ESC Guidelines for cardiomyopathies. https://academic.oup.com/eurheartj/article/44/37/3503/7246608