Hypertrophic cardiomyopathy syndrome

General: Autosomal recessive; four major findings are congenital cataracts, hypertrophic cardiomyopathy, mitochondrial myopathy of voluntary muscles, and exercise-related lactic acidosis; premature death.

Ocular: Congenital cataracts; nystagmus; myopia; strabismus; myopic fundus findings.

Clinical: Hypertrophic cardiomyopathy; mitochondrial myopathy of voluntary muscles; exercise-related lactic acidosis.

Cruysberg JRM, et al. Features of a syndrome with congenital cataract and hypertrophic cardiomyopathy. Am J Ophthalmol 1986; 102:740-749.

Willems JMF, et al. Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise. J Pediatr 1975; 86:873.