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PPM - Genetic Evaluation of Non-syndromic Cardiomy ...
Description and References
Description and References
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Pdf Summary
Genetic evaluation is essential for individuals with non-syndromic, non-acquired cardiomyopathy, with molecular genetic testing recommended. Family members should receive genetic risk assessment and cardiac surveillance for early detection. Different types of cardiomyopathy such as HCM, RCM, DCM, and ARVC have distinct features and genetic associations. Pathogenic gene variants are commonly found in probands with non-syndromic HCM and DCM. Molecular genetic testing is crucial for identifying genetic causes in all individuals with non-acquired cardiomyopathy, including peripartum cardiomyopathy, to guide proper treatment and management. Cascade testing is important for identifying at-risk family members for appropriate cardiovascular screening. Various resources and guidelines are available to support the genetic evaluation of cardiomyopathy, emphasizing the significance of early genetic assessment and surveillance for improved patient outcomes.
Keywords
genetic evaluation
non-syndromic
cardiomyopathy
molecular genetic testing
family members
HCM
RCM
DCM
ARVC
pathogenic gene variants
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