title: Post-mortem genetic testing in a family with long-QT syndrome and hypertrophic cardiomyopathy.
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.
authors: Department of Pediatric Cardiology, University of Massachusetts Medical School, Worcester, MA, USA. Electronic address: david.kane@umassmemorial.org.
authors: David A
authors: DA
authors: Kane
authors: Harvard Medical School, Boston Children's Hospital, Boston, MA, USA.
authors: John
authors: J
authors: Triedman
mesh_terms: D000293:Adolescent; D001344:Autopsy; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002317:Cardiovascular Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D016757:Death, Sudden, Cardiac / Q000209:etiology* / Q000473:pathology; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008133:Long QT Syndrome / Q000150:complications / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D011237:Predictive Value of Tests; D020107:Troponin T / Q000235:genetics*
chemical_list: D002317:Cardiovascular Agents; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; D020107:Troponin T
keywords: Familial cardiomyopathy screening; Hypertrophic cardiomyopathy; Long QT syndrome; Post-mortem genetic testing; Sudden cardiac arrest