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01-05-2007 | review article

Familial screening and genetic counselling in hypertrophic cardiomyopathy: the Rotterdam experience

Auteurs: M. Michels, Y. M. Hoedemaekers, M. J. Kofflard, I. Frohn-Mulder, D. Dooijes, D. Majoor-Krakauer, F. J. Ten Cate

Gepubliceerd in: Netherlands Heart Journal | Uitgave 5/2007

Abstract

Hypertrophic cardiomyopathy (HCM) is a disease characterised by unexplained left ventricular hypertrophy (LVH) (i.e. LVH in the absence of another cardiac or systemic disease that could produce a similar degree of hypertrophy), electrical instability and sudden death (SD).

Germline mutations in genes encoding for sarcomere proteins are found in more than half of the cases of unexplained LVH. The autosomal dominant inherited forms of HCM are characterised by incomplete penetrance and variability in clinical and echocardiographic features, prognosis and therapeutic modalities. The identification of the genetic defect in one of the HCM genes allows accurate presymptomatic detection of mutation carriers in a family. Cardiac evaluation of at-risk relatives enables early diagnosis and identification of those patients at high risk for SD, which can be the first manifestation of the disease in asymptomatic persons. In this article we present our experience with genetic testing and cardiac screening in our HCM population and give an overview of the current literature available on this subject. (Neth Heart J 2007;15:184-9.)

vorige artikel Troponin T elevation and prognosis after multivessel compared with single-vessel elective percutaneous coronary intervention

volgende artikel Coronary tortuosity: a long and winding road

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Titel: Familial screening and genetic counselling in hypertrophic cardiomyopathy: the Rotterdam experience
Auteurs: M. Michels
Y. M. Hoedemaekers
M. J. Kofflard
I. Frohn-Mulder
D. Dooijes
D. Majoor-Krakauer
F. J. Ten Cate
Publicatiedatum: 01-05-2007
Uitgeverij: Bohn Stafleu van Loghum
Gepubliceerd in: Netherlands Heart Journal / Uitgave 5/2007
Print ISSN: 1568-5888
Elektronisch ISSN: 1876-6250
DOI: https://doi.org/10.1007/BF03085978

Bohn Stafleu van Loghum

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