Mutations in the cardiac Troponin C gene are a cause of idiopathic dilated cardiomyopathy in childhood.
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.
Kaski
Juan Pablo
JP
Inherited Cardiovascular Diseases Unit, Great Ormond Street Hospital, University College London, United Kingdom. j.kaski@ucl.ac.uk
Burch
Michael
M
Elliott
Perry M
PM
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
D019209:Troponin C; D004247:DNA