title: DNA testing in familial hypertrophic cardiomyopathy: clinical and laboratory implications.
abstract: Counselling and clinical assessment in familial hypertrophic cardiomyopathy (FHC) is difficult, particularly in the young, since echocardiographic and ECG changes may not be diagnostic and clinical severity can vary. From 1990, when the beta-cardiac myosin heavy chain gene was implicated in the aetiology of FHC, considerable information about the molecular genetics of this disorder has emerged. However, an important question facing health professionals is the practical significance of DNA testing in FHC. The present study describes a DNA-based approach to screening for five commonly reported mutations involving the beta-cardiac myosin heavy chain gene. Approximately 11% of randomly selected families had an abnormality detected.
authors.affiliation: Department of Molecular Genetics, Royal Prince Alfred Hospital, Camperdown, NSW, Australia.
authors.forename: R V
authors.initials: RV
authors.lastname: Smart
authors.forename: B
authors.initials: B
authors.lastname: Yu
authors.forename: H
authors.initials: H
authors.lastname: Le
authors.forename: J A
authors.initials: JA
authors.lastname: French
authors.forename: D R
authors.initials: DR
authors.lastname: Richmond
authors.forename: R W
authors.initials: RW
authors.lastname: Jeremy
authors.forename: C
authors.initials: C
authors.lastname: Semsarian
authors.forename: L
authors.initials: L
authors.lastname: Cheung
authors.forename: D A
authors.initials: DA
authors.lastname: Ross
authors.forename: R J
authors.initials: RJ
authors.lastname: Trent
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000235:genetics*; D004247:DNA / Q000032:analysis*; D008040:Genetic Linkage; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D015336:Molecular Probe Techniques; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree
chemical_list: D004247:DNA; D018995:Myosin Heavy Chains