Key result
Substantial evidence demonstrates that genetic contributions, including mutations in genes such as TTN, play a significant role in the pathogenesis of peripartum cardiomyopathy.
Why the study?
The cause of peripartum cardiomyopathy remains unclear, and the degree of overlap with familial dilated cardiomyopathy as well as the true incidence of genetic cardiomyopathy among affected women are not yet known.
Peripartum cardiomyopathy has a significant genetic etiology, sharing pathogenic mutations like TTN truncations with familial dilated cardiomyopathy, suggesting a role for genetic screening in affected families.
May support genetic evaluation in peripartum cardiomyopathy families; leaves open prospective validation before screening recommendations.
Peripartum cardiomyopathy (PPCM) is a rare type of cardiomyopathy. PPCM is a potentially life-threatening pregnancy-associated disease that typically arises in peripartum period and is marked with left ventricular (LV) dysfunction and heart failure. The cause of PPCM remain unclear, but several mechanisms have been proposed ehich indices a potentially multi-factorial etiology. Early case reports identified overlap between familial dilated cardiomyopathy (DCM) and PPCM, although the degree of overlap is largely unknown. Many evidence supporting a contribution from gene mutations in PPCM includes genome-wide association studies, familial occurrence, variable prevalence among different regions and ethnicities, and more recent investigations of panels of genes for mutations among women with PPCM. Although the true incidence of genetic cardiomyopathy is not yet known among women with PPCM, there is substantial evidence demonstrating that genetic contribution to their condition.
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Dewi et al. (2021) conducted a review in Peripartum cardiomyopathy. Genetic mutations (e.g., TTN, familial dilated cardiomyopathy genes) was evaluated. Substantial evidence demonstrates that genetic contributions, including mutations in genes such as TTN, play a significant role in the pathogenesis of peripartum cardiomyopathy.
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