Genetic testing and cascade screening are crucial for primary and secondary risk prevention in rare cardiomyopathies like autosomal dominant Carvajal syndrome.
In a 37-year-old cardiac arrest survivor with autosomal dominant Carvajal syndrome and arrhythmogenic cardiomyopathy, a desmoplakin mutation was identified. Cascade screening identified 2 affected family members and 2 healthy children carrying the mutation. Strategies for primary and secondary risk prevention emphasize the role of genetic testing in rare cardiomyopathies. (Level of Difficulty: Advanced.)
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Gregorio et al. (2020) studied this question.
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