학술논문

The importance of the family history in caring for families with long QT syndrome and dilated cardiomyopathyHow to cite this article: Ruiter JS, BerkenboschNieuwhof K, van den Berg MP, van Dijk R, Middel B, van Tintelen JP. 2010. The importance of the family history in caring for families with long QT syndrome and dilated cardiomyopathy. Am J Med Genet Part A 152A:607–612.Jolien S. Ruiter and Karin BerkenboschNieuwhof contributed equally to this work.
Document Type
Article
Source
American Journal of Medical Genetics. Part A; March 2010, Vol. 152 Issue: 3 p607-612, 6p
Subject
Language
ISSN
15524825; 15524833
Abstract
In potentially inherited cardiac diseases, the family history is of great importance. We looked at the way cardiologists take a family history in patients with idiopathic dilated cardiomyopathy DCM or long QT syndrome LQTS and whether this led to screening of relatives or other followup. We performed retrospective crosssectional analyses of adult index patients with DCM or LQTS in a general hospital GH or a University Medical Center UMC. We identified 82 index patients with DCM 34 GH; 48 UMC and 20 with LQTS all UMC between 1996 and 2005. Mean followup was 58 months. A family history was recorded in 90 of both LQTS and DCM patients most of the cases restricted to firstdegree family members. The genetic aspects, counseling and screening of family members was discussed significantly more often with LQTS than DCM patients all P < 0.05. Also followup screening of family members, DNA analysis and referral was performed significantly more often in LQTS than DCM patients. Cardiologists in the UMC referred DCM index patients for genetic counseling more often than those in the GH 25 vs. 6; P < 0.05. Only a few index patients with DCM were referred to a clinical genetics department. Onethird of DCM cases and nearly all LQTS cases are familial. Since early recognition and treatment may reduce morbidity and mortality we recommend cardiologists take a more thorough family history and always consider referring to a clinical genetics department in such index patients. © 2010 WileyLiss, Inc.