1. Family and population strategies for screening and counselling of inherited cardiac arrhythmias
- Author
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Nynke Hofman, I.M. Van Langen, H.L. (Hanno) Tan, Arthur A.M. Wilde, Reproductive Origins of Adult Health and Disease (ROAHD), Health Psychology Research (HPR), Human Genetics, Amsterdam Cardiovascular Sciences, and Cardiology
- Subjects
family ,genetic analysis ,Disease ,disease carrier ,medical research ,Health care ,Evaluation ,Predictive testing ,conference paper ,Netherlands ,education.field_of_study ,Genetic Carrier Screening ,feasibility study ,beta adrenergic receptor blocking agent ,genetic screening ,General Medicine ,health care ,Long QT Syndrome ,Distress ,counseling ,priority journal ,social aspect ,Arrhythmia ,medicine.medical_specialty ,side effect ,Cardiomyopathy ,heredity ,distress syndrome ,DNA screening ,Genetic counseling ,Population ,heart arrhythmia ,sudden death ,Genetic Counseling ,Sudden death ,evaluation study ,Cardiomyopathy, Hypertrophic, Familial ,Genetics ,medicine ,Humans ,follow up ,Genetic Testing ,propranolol ,human ,Intensive care medicine ,education ,Psychiatry ,Wilson disease ,Huntington chorea ,Genetic counselling ,business.industry ,practice guideline ,screening ,Public health ,Arrhythmias, Cardiac ,prediction ,DNA testing ,Death, Sudden, Cardiac ,business ,genetic predisposition ,population research ,Follow-Up Studies - Abstract
Family screening in inherited cardiac arrhythmias has been performed in The Netherlands since 1996, when diagnostic DNA testing in long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) became technically possible. In multidisciplinary outpatient academic clinics, an adjusted protocol for genetic counselling, originally derived from predictive testing in Huntington's disease, is being used. 1110 individuals, including 842 relatives of index patients, were informed about their risks, and most were tested molecularly and/or clinically for carriership of the disease present in their family. Of 345 relatives who were referred for cardiologic follow-up, 189 are being treated, because of an increased risk of life-threatening arrhythmias. Evaluation of the psychological and social consequences of family screening for inherited arrhythmias can be performed by using the adapted criteria of Wilson and Jüngner, i.e., from a point of view of public health. Preliminary results of psychological research show that parents of children at risk for LQTS show high levels of distress. Many other aspects have to be evaluated yet, making final conclusions about the feasibility of family screening difficult, particularly in HCM. Clinical guidelines are urgently needed. Population screening by molecular testing, for instance in athletic preparticipation screening, will become possible in the future and has its own prerequisites for success.
- Published
- 2004