title: 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.affiliation: Department of Pediatric Cardiology, Groupe Hospitalier Est, Hospices Civils de Lyon, Lyon, France.
authors.forename: Simon
authors.initials: S
authors.lastname: Karam
authors.forename: Marie-Josée
authors.initials: MJ
authors.lastname: Raboisson
authors.forename: Corinne
authors.initials: C
authors.lastname: Ducreux
authors.forename: Lara
authors.initials: L
authors.lastname: Chalabreysse
authors.forename: Gilles
authors.initials: G
authors.lastname: Millat
authors.forename: André
authors.initials: A
authors.lastname: Bozio
authors.forename: Patrice
authors.initials: P
authors.lastname: Bouvagnet
mesh_terms: D024722:Cardiac Myosins / Q000235:genetics*; D002313:Cardiomyopathy, Restrictive / Q000175:diagnosis / Q000235:genetics*; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*
chemical_list: C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains