Hypertrophic cardiomyopathy most commonly results from mutations in genes encoding which structural protein?

• A Dystrophin (DMD gene)
• B Titin (TTN), the giant sarcomeric spring protein
• C Lamin A/C (LMNA), a nuclear envelope protein
• D Beta-myosin heavy chain (MYH7) or myosin binding protein C (MYBPC3) ✓

Explanation

Hypertrophic cardiomyopathy is predominantly an autosomal dominant sarcomeric protein disorder; the two most commonly mutated genes are MYH7 (beta-myosin heavy chain) and MYBPC3 (cardiac myosin binding protein C), together accounting for ~70% of identified mutations. These are components of the thick filament. Dystrophin mutations cause dilated cardiomyopathy in Duchenne/Becker; Titin mutations cause dilated CMP; Lamin A/C mutations cause EDMD and dilated CMP with conduction disease.

Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.