Bridging the Gap Between Genetic Cardiomyopathies and Pregnancy

Genetic testing is increasingly common for people with cardiomyopathies and arrhythmias, with cascade screening recommended for first-degree relatives of those carrying pathogenic or likely pathogenic variants. Consequently, a growing number of women of childbearing potential have been identified as being genotype-positive for cardiomyopathy and arrhythmia-associated genes. Knowledge of genotype—particularly in those with strong family history—may impact reproductive planning and guide interventions to reduce pregnancy-related risks. Herein, we outline the current landscape of genetic cardiomyopathies and discuss pregnancy-related considerations for affected women. We examine the limitations of existing pregnancy risk stratification models and highlight the role of multidisciplinary Pregnancy Heart Teams in optimizing maternal and fetal outcomes. We also review counseling points for genotype-positive women considering pregnancy, including preconception planning, preimplantation genetic testing, antenatal surveillance, and delivery planning. Finally, we address recommendations for postpartum management and provide illustrative cases to guide clinical care in this growing population.