A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy.
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.
Karam
Simon
S
Department of Pediatric Cardiology, Groupe Hospitalier Est, Hospices Civils de Lyon, Lyon, France.
Raboisson
Marie-Josée
MJ
Ducreux
Corinne
C
Chalabreysse
Lara
L
Millat
Gilles
G
Bozio
André
A
Bouvagnet
Patrice
P
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*
C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains