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Updated: Aug 11, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Asymptomatic noncompaction myocardium and familial probable partial penetrant disease
Abstract:
Isolated noncompaction of the ventricular myocardium is thought to be caused by arrest of normal embryogenesis of the endocardium and myocardium. Clinical manifestations are highly variable, from no symptoms to congestive heart failure, arrhythmias, and systemic thromboemboli. Both familial and sporadic forms have been described, and mutations of certain genes have been related with this entity. Partial penetration of the disease is reported. We report an asymptomatic infant accomplishing the echocardiographic criteria, and his mother, showing prominent trabeculations and recesses, but not fulfilling all the diagnosis criteria.
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