Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications
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2021-01-15
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Abstract
Peripartum cardiomyopathy (PPCM) is a condition in which heart failure and systolic
dysfunction occur late in pregnancy or within months following delivery. Over the last decade,
genetic advances in heritable cardiomyopathy have provided new insights into the role of genetics
in PPCM. In this review, we summarise current knowledge of the genetics of PPCM and potential
avenues for further research, including the role of molecular chaperone mutations in PPCM. Evidence
supporting a genetic basis for PPCM has emanated from observations of familial disease, overlap
with familial dilated cardiomyopathy, and sequencing studies of PPCM cohorts. Approximately
20% of PPCM patients screened for cardiomyopathy genes have an identified pathogenic mutation,
with TTN truncations most commonly implicated. As a stress-associated condition, PPCM may
be modulated by molecular chaperones such as heat shock proteins (Hsps). Recent studies have
led to the identification of Hsp mutations in a PPCM model, suggesting that variation in these
stress-response genes may contribute to PPCM pathogenesis. Although some Hsp genes have been
implicated in dilated cardiomyopathy, their roles in PPCM remain to be determined. Additional
areas of future investigation may include the delineation of genotype-phenotype correlations and the
screening of newly-identified cardiomyopathy genes for their roles in PPCM. Nevertheless, these
findings suggest that the construction of a family history may be advised in the management of
PPCM and that genetic testing should be considered. A better understanding of the genetics of PPCM
holds the potential to improve treatment, prognosis, and family management.
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Reference:
Spracklen, T.F., Chakafana, G., Schwartz, P.J., Kotta, M., Shaboodien, G., Ntusi, N.A.B. & Sliwa, K. 2021. Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications. Genes. 12(1) http://hdl.handle.net/11427/35244