title: Mutations in the cardiac Troponin C gene are a cause of idiopathic dilated cardiomyopathy in childhood.
abstract: The role of familial disease in childhood dilated cardiomyopathy is unknown. A novel mutation in the cardiac Troponin C gene has been identified recently in a family with dilated cardiomyopathy. Here we present a subsequent case of dilated cardiomyopathy occurring in a child from the same family, and emphasise the implications for future screening and counselling.
authors.affiliation: Inherited Cardiovascular Diseases Unit, Great Ormond Street Hospital, University College London, United Kingdom. j.kaski@ucl.ac.uk
authors.forename: Juan Pablo
authors.initials: JP
authors.lastname: Kaski
authors.forename: Michael
authors.initials: M
authors.lastname: Burch
authors.forename: Perry M
authors.initials: PM
authors.lastname: Elliott
mesh_terms: D001706:Biopsy; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D018618:Echocardiography, Doppler, Color; D004562:Electrocardiography; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D016027:Heart Transplantation; D006801:Humans; D008297:Male; D009154:Mutation; D009200:Myocardial Contraction; D009206:Myocardium / Q000378:metabolism* / Q000473:pathology; D010375:Pedigree; D012720:Severity of Illness Index; D019209:Troponin C / Q000235:genetics* / Q000378:metabolism
chemical_list: D019209:Troponin C; D004247:DNA