4th March 2024

A 32-year-old male presents with shortness of breath and palpitations

A 32-year-old male presents with shortness of breath and palpitations. At 16 years old, he experienced pains in his calves when walking, accompanied by myalgia and reduced exercise tolerance. He sleeps on two pillows due to shortness of breath in bed. He denies any chest pains. Examination reveals bilaterally enlarged calves and winged scapulae. He displays weakness along his pelvic and shoulder girdles. He is independently ambulant with a waddling gait. Blood shows a raised CK level of approximately eight times the upper limit of normal. An echo has shown significant dilative cardiomyopathy.

What is the likely underlying diagnosis?

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