Key result
Peripartum cardiomyopathy is a rare, potentially fatal disease with emerging evidence suggesting a genetic basis, prompting a global collaborative effort to collect heart tissue for RNA sequencing.
Why the study?
Peripartum cardiomyopathy is a rare and little understood disease with open questions regarding its incidence, diagnosis, treatment, vascular or hormonal triggers, and potential familial etiology.
Highlights the need for global collaboration and RNAseq investigation at the cardiomyocyte level to better understand the genetic and molecular basis of peripartum cardiomyopathy.
Supports further genetic inquiry in PPCM; leaves open clinical implications pending cardiomyocyte RNAseq validation.
In this review, we present our current understanding of peripartum cardiomyopathy (PPCM) based on reports of the incidence, diagnosis and current treatment options. We summarise opinions on whether PPCM is triggered by vascular and/or hormonal causes and examine the influence of comorbidities such as preeclampsia. Two articles published in 2021 strongly support the hypothesis that PPCM may be a familial disease. Using large cohorts of PPCM patients, they summarised the available genomic DNA sequence data that are expressed in human cardiomyocytes. While PPCM is considered a disease predominately affecting the left ventricle, there are data to suggest that some cases also involve right ventricular failure. Finally, we conclude that there is sufficient evidence to warrant an RNAseq investigation and that this would be most informative if performed at the cardiomyocytes level rather than analysing genomic DNA from the peripheral circulation. Given the rarity of PPCM, the combined resources of international human heart tissue biobanks have assembled 30 ventricular tissue samples from PPCM patients, and we are actively seeking to enlarge this patient base by collaborating with human heart tissue banks and research laboratories who would like to join this endeavour.
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Li et al. (2022) conducted a review in Peripartum cardiomyopathy. Peripartum cardiomyopathy is a rare, potentially fatal disease with emerging evidence suggesting a genetic basis, prompting a global collaborative effort to collect heart tissue for RNA sequencing.
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