Genetic testing in ARVC/D revealed that single and compound mutation carriers have more symptomatic disease, whereas the P366L polymorphism is associated with a more benign phenotype.
Cohort
Does genetic testing improve diagnosis and phenotype prediction in patients with confirmed or suspected ARVC/D?
Genetic testing in ARVC/D aids in diagnosis, especially when Task Force criteria are not fully met, and specific mutations correlate with disease severity.
In a cohort of patients with confirmed or suspected arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), genetic testing is useful in confirming the diagnosis, particularly in individuals who do not completely fulfil Task Force criteria for the disease, thereby also enabling the adoption of preventive measures in family members. Due to the high percentage of novel mutations that are expected to be identified in ARVC/D, the use of genetic screening technology based on the identification of known mutations seems to have very restricted value. Our results support that the presence of certain genetic variations could play a role in the final phenotype of patients with ARVC/D, where single and compound mutation carriers would have more symptomatic forms of the disease and the polymorphism P366L could be associated to a more benign phenotype.
Barahona-Dussault et al. (Fri,) conducted a cohort in Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D). Genetic testing was evaluated on Phenotype severity based on genetic variations. Genetic testing in ARVC/D revealed that single and compound mutation carriers have more symptomatic disease, whereas the P366L polymorphism is associated with a more benign phenotype.
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