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

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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.)

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    M. Michels

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  1. M. Michels
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  2. Y. M. Hoedemaekers
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  3. M. J. Kofflard
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  4. I. Frohn-Mulder
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  5. D. Dooijes
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  6. D. Majoor-Krakauer
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  7. F. J. Ten Cate
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Department of Cardiology, Thoraxcentre, Erasmus Medical Centre, Rotterdam, the Netherlands

Albert Schweitzer Hospital, Dordrecht, the Netherlands

Department of Paediatric Cardiology, Thoraxcentre, Erasmus Medical Centre, Rotterdam, the Netherlands

Medical Centre, Rotterdam, the Netherlands

Department of Cardiology, Thoraxcentre, Erasmus Medical Centre, Rotterdam, the Netherlands

F.J. Ten Cate Department of Cardiology, Thoraxcentre, Erasmus Medical Centre, PO Box 2040, 3000 CA Rotterdam, the Netherlands

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Michels, M., Hoedemaekers, Y.M., Kofflard, M.J. et al. Familial screening and genetic counselling in hypertrophic cardiomyopathy: the Rotterdam experience. NHJL 15, 184–190 (2007). https://doi.org/10.1007/BF03085978

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