A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy.

Abstract

Here we report the first pediatric case of restrictive cardiomyopathy secondary to a de novo mutation in the cardiac myosin heavy chain gene MYH7. The clinical course is characterized by an early onset of disease, mild hypertrophy of the left ventricle and a very short evolution to death. Because of the location of the mutation in the hinge region between the rod part and the globular head of the myosin molecule, it is possible that restrictive cardiomyopathy resulted from an impairment of flexion/extension of myosin heads during the contraction/relaxation cycle.

• Authors: Simon Karam, Marie-Josée Raboisson, Corinne Ducreux, Lara Chalabreysse, Gilles Millat, André Bozio, Patrice Bouvagnet
• Journal: Congenital heart disease (Congenit Heart Dis) 2008 Mar-Apr Vol. 3 Issue 2 Pg. 138-43 ISSN: 1747-0803 [Electronic] United States
• PMID: 18380764 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• MYH7 protein, human
• Cardiac Myosins
• Myosin Heavy Chains

Topics

• Cardiac Myosins (genetics)
• Cardiomyopathy, Restrictive (diagnosis, genetics)
• Fatal Outcome
• Humans
• Infant, Newborn
• Male
• Mutation
• Myosin Heavy Chains (genetics)