Hypertrophic cardiomyopathy: a new mutation illustrates the need for family-centered care. Pediatr Cardiol 2014 Dec;35(8):1474-7
Date
09/04/2014Pubmed ID
25182012DOI
10.1007/s00246-014-1002-7Scopus ID
2-s2.0-84920940960 (requires institutional sign-in at Scopus site) 2 CitationsAbstract
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.
Author List
Lee DD, Veith RL, Dimmock DP, Samyn MMAuthor
Margaret Mary Samyn MD, MBA Assistant Dean, Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdultCardiac Myosins
Cardiomyopathy, Hypertrophic, Familial
Child
Child, Preschool
Early Diagnosis
Female
Genetic Predisposition to Disease
Genetic Testing
Humans
Infant, Newborn
Male
Mutation
Myosin Heavy Chains
Pedigree
