Key result
Pathogenic mutations in severe peripartum cardiomyopathy are linked to 100% disease penetrance after pregnancy.
Why the study?
The etiology of peripartum cardiomyopathy remains unclear, and understanding the genetic factors underpinning the disease may provide new insights into its pathogenesis.
Observational (n=32)
No
Genetic screening in severe peripartum cardiomyopathy reveals a high prevalence of inherited cardiomyopathy mutations, suggesting pregnancy may act as a trigger for disease penetrance in genetically predisposed women.
Hypothesis-generating for genetic screening in severe peripartum cardiomyopathy; prospective studies needed before clinical adoption.
Background: Peripartum cardiomyopathy (PPCM) is a rare disease that causes maternal morbidity and mortality worldwide. However, the etiology of PPCM is still unclear, and the rate of recovery varies between patients. Understanding the genetic factors underpinning PPCM may provide new insights into its pathogenesis. Methods: This genetic study screened six patients with severe PPCM and their family members using a panel of 204 genes associated with inherited cardiomyopathy. Results: The six probands progressed to severe cardiac dysfunction during follow-up, with a low left ventricular ejection fraction of <30% and a significant increase in left ventricular end-diastolic diameter. Genetic analysis showed that four of the six probands had pathogenic mutations. No specific mutation was identified in the other two probands. Further screening of the probands' families identified that eight family members shared the same mutation with their probands. The total positive genetic mutation rate was 46% (12/26). Among those with genetic mutations, women who had pregnancies showed symptoms of heart disease. Conclusions: For PPCM patients with a genetic predisposition, pregnancy may exert pathogenic effects in terms of disease initiation and progression. Patients with PPCM with a first-degree relative diagnosed with inherited cardiomyopathy may benefit from genetic counselling.
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Li et al. (2024) conducted an observational in Severe Peripartum Cardiomyopathy (n=32). Cardiomyopathy-associated genetic mutations and pregnancy vs. Genotype-negative relatives and mutation carriers without pregnancy was evaluated on Identification of pathogenic mutations and disease penetrance. Pathogenic mutations were identified in four of six women with severe peripartum cardiomyopathy, and among family members with mutations, heart disease penetrance was 100% in those with pregnancies versus 28.6% in those without.
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