skip to main content

Danon Disease — EECC MCQ

Instant feedback + full explanation. One question, done properly.

HardCardiomyopathyDanon DiseaseEECC

A 20-year-old man with Danon disease (confirmed LAMP2 mutation) presents with massive LVH (wall thickness 30 mm), WPW on ECG, and mild intellectual disability. His LVEF is 55%. What is the key management consideration?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: B — Early referral for cardiac transplant assessment as Danon disease has a rapidly progressive course with poor prognosis in males

Danon disease is an X-linked lysosomal storage disorder caused by mutations in the LAMP2 gene. It causes massive LVH, often mimicking HCM, but with a distinctive triad: HCM phenotype, WPW/pre-excitation, and intellectual disability (in males). Unlike sarcomeric HCM, Danon disease has a rapidly progressive course in males, with median age of death or transplant in the late teens to mid-20s. Heart failure and malignant arrhythmias are the leading causes of death. The 2023 ESC Cardiomyopathy Guidelines emphasise that recognising Danon disease is crucial as standard HCM therapies (mavacamten, myectomy) do not address the underlying storage pathology. Early transplant referral is essential.

Reference: ESC (2023): Guidelines on Cardiomyopathies