Post-mortem genetic testing in a family with long-QT syndrome and hypertrophic cardiomyopathy |
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| Affiliation: | 1. Department of Pediatric Cardiology, University of Massachusetts Medical School, Worcester, MA, USA;2. Harvard Medical School, Boston Children’s Hospital, Boston, MA, USA;1. Servicio de Análisis Clínicos, Hospital General Universitario de Albacete, Albacete, Spain;2. Servicio de Hematología y Hemoterapia, Hospital Clínico San Carlos, Madrid, Spain;1. Department of Biochemistry and Cell Biology, Faculty of Natural Sciences, Kazimierz Wielki University in Bydgoszcz, Ks. J. Poniatowskiego 12 Str., 85-671 Bydgoszcz, Poland;2. Department of Physics, University at Buffalo, SUNY, Buffalo, NY 14260, United States |
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| Abstract: | Pediatric sudden unexplained deaths are rare and tragic events that should be evaluated with all the tools available to the medical community. The current state of genetic testing is an excellent resource that improves our ability to diagnose cardiovascular disorders that can lead to sudden cardiac arrest. Post-mortem genetic testing is not typically a covered benefit of health insurance and may not be offered to families in the setting of a negative autopsy. This unusual case includes two separate cardiovascular disorders that highlight the use of genetic testing and its role in diagnosis, screening, and risk stratification. The insurance company's decision to cover post-mortem testing demonstrated both compassion as well as an understanding of the long-term cost effectiveness. |
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