Myocardial crypts as a preclinical sign of hypertrophic cardiomyopathy

The identification by cardiac magnetic resonance of myocardial crypts in the left ventricle (LV) of individuals carrying hypertrophic cardiomyopathy causative mutations, but without overt hypertrophy, has been proposed as an early sign of the disease. Myocardial crypts are usually identified in the offsprings of patients with a complete penetrance of the disease.

We present a case of familial hypertrophic cardiomyopathy displaying an unusual pattern of disease distribution; the 14-year-old child was affected, demonstrating a typical LV asymmetrical hypertrophy, his grandfather, and the 2 brothers of his mother were also affected, but the 41-year-old mother was unaffected (no hypertrophy) displaying 3 myocardial crypts in inferior LV wall, suggesting a preclinical involvement.

The findings underscore the diverse clinical spectrum of the disease, even in a single family and also the need to revise the diagnostic criteria of hypertrophic cardiomyopathy.Hippokratia 2014; 18 (4): 359-361.