Key result
A multidisciplinary cardiac genetics service addresses the variability in presentation of inherited cardiac diseases and the challenges of health screening and genetic testing.
Highlights the necessity and development of multidisciplinary services for managing families with inherited cardiac diseases.
Supports development of multidisciplinary cardiac genetics services; leaves open prospective evaluation of outcomes and implementation.
During the past decade there has been a rapid rise in genetic knowledge and huge technological advances. It is now possible to identify families at increased risk of inherited cardiac disorders such as cardiomyopathy and long QT syndrome. Such conditions can be associated with early onset sudden death and the National Service Framework (Chapter 8) recommends that families are offered appropriate support and treatment in specialized centres. In addition, delivery of efficient, effective and increasingly patient-focused services has become vital. This article describes the development of a multidisciplinary cardiac genetics service in a regional genetics centre. It highlights the current challenges for health screening and genetic testing. The importance of the role of the health professionals caring for patients with inherited cardiac disease in establishing the accurate diagnosis and management of these families is also highlighted. A case study demonstrates the variability in presentation of cardiac disease that can occur in families and the necessity of providing a multidisciplinary service.
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Watts et al. (2009) conducted a review in Inherited cardiac disease. Multidisciplinary cardiac genetics service was evaluated. A multidisciplinary cardiac genetics service addresses the variability in presentation of inherited cardiac diseases and the challenges of health screening and genetic testing.
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