A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation.
Cardiomyopathy is a significant clinical problem associated with sudden death. A molecular taxonomy is emerging that is refining the clinical classification system. We describe a patient with a pathogenic familial beta-myosin heavy chain mutation who was prenatally diagnosed with left ventricular hypoplasia and restrictive diastolic physiology.
Hinton
Robert B
RB
Division of Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. robert.hinton@cchmc.org
Michelfelder
Erik C
EC
Marino
Bradley S
BS
Bove
Kevin E
KE
Ware
Stephanie M
SM
D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005333:Fetus / Q000473:pathology*; D020022:Genetic Predisposition to Disease; D005865:Gestational Age; D006352:Heart Ventricles / Q000473:pathology; D006801:Humans; D009035:Mothers; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal; D024723:Ventricular Myosins / Q000235:genetics*
D024723:Ventricular Myosins; D018995:Myosin Heavy Chains
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