title: Hypertrophic cardiomyopathy: a new mutation illustrates the need for family-centered care.
abstract: This is a case series of a family positive for a previously undescribed mutation in the myofilament gene MYH7, causing hypertrophic cardiomyopathy (HCM), a potentially lethal cardiac disease with strong hereditability. The family's significant disease became strikingly apparent with the unanticipated diagnosis of their newborn infant shortly after her birth. This led to the discovery of the MYH7 mutation in the infant, as well as her father and two siblings, all of whom had varying degrees of disease severity. Despite prior diagnosis of HCM for the paternal grandmother and great uncles, this family's situation points to the need for continued education of healthcare providers, when heritable diseases are encountered. Genetics consult should occur early and has been shown to be helpful in making an accurate diagnosis and identifying relatives at risk of developing the condition. It may, as in this case series, lead to the discovery of a novel mutation and contribute to the growing genetic database for familial HCM.
authors.affiliation: Medical College of Wisconsin, Milwaukee, WI, USA, ddlee@mcw.edu.
authors.forename: Daniel D
authors.initials: DD
authors.lastname: Lee
authors.forename: Regan L
authors.initials: RL
authors.lastname: Veith
authors.forename: David P
authors.initials: DP
authors.lastname: Dimmock
authors.forename: Margaret M
authors.initials: MM
authors.lastname: Samyn
mesh_terms: D000328:Adult; D024722:Cardiac Myosins / Q000235:genetics*; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D042241:Early Diagnosis; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree
chemical_list: C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains