Post-mortem genetic testing in a family with long-QT syndrome and hypertrophic cardiomyopathy
Kane, David A. ; Triedman, John
Citations
Authors
Student Authors
Faculty Advisor
Academic Program
UMass Chan Affiliations
Document Type
Publication Date
Keywords
Autopsy
Cardiomyopathy, Hypertrophic, Familial
Cardiovascular Agents
Child
Child, Preschool
Death, Sudden, Cardiac
Ether-A-Go-Go Potassium Channels
Fatal Outcome
Female
Genetic Predisposition to Disease
*Genetic Testing
Humans
Long QT Syndrome
Male
*Mutation, Missense
Pedigree
Predictive Value of Tests
Troponin T
Familial cardiomyopathy screening
Hypertrophic cardiomyopathy
Long QT syndrome
Post-mortem genetic testing
Sudden cardiac arrest
Cardiology
Cardiovascular Diseases
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Pathology
Pediatrics
Subject Area
Embargo Expiration Date
Link to Full Text
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.
Source
Cardiovasc Pathol. 2014 Mar-Apr;23(2):107-9. doi: 10.1016/j.carpath.2013.11.003. Link to article on publisher's site.