Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications

dc.contributor.authorSpracklen, Timothy F
dc.contributor.authorChakafana, Graham
dc.contributor.authorSchwartz, Peter J
dc.contributor.authorKotta, Maria-Christina
dc.contributor.authorShaboodien, Gasnat
dc.contributor.authorNtusi, Ntobeko A B
dc.contributor.authorSliwa, Karen
dc.date.accessioned2021-10-14T09:08:44Z
dc.date.available2021-10-14T09:08:44Z
dc.date.issued2021-01-15
dc.date.updated2021-01-22T15:47:18Z
dc.description.abstractPeripartum 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.en_US
dc.identifierdoi: 10.3390/genes12010103
dc.identifier.apacitationSpracklen, 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. <i>Genes</i>, 12(1), http://hdl.handle.net/11427/35244en_ZA
dc.identifier.chicagocitationSpracklen, Timothy F, Graham Chakafana, Peter J Schwartz, Maria-Christina Kotta, Gasnat Shaboodien, Ntobeko A B Ntusi, and Karen Sliwa "Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications." <i>Genes</i> 12, 1. (2021) http://hdl.handle.net/11427/35244en_ZA
dc.identifier.citationSpracklen, 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. <i>Genes.</i> 12(1) http://hdl.handle.net/11427/35244en_ZA
dc.identifier.ris TY - Journal Article AU - Spracklen, Timothy F AU - Chakafana, Graham AU - Schwartz, Peter J AU - Kotta, Maria-Christina AU - Shaboodien, Gasnat AU - Ntusi, Ntobeko A B AU - Sliwa, Karen AB - 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. DA - 2021-01-15 DB - OpenUCT DP - University of Cape Town IS - 1 J1 - Genes LK - https://open.uct.ac.za PY - 2021 T1 - Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications TI - Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications UR - http://hdl.handle.net/11427/35244 ER - en_ZA
dc.identifier.urihttps://doi.org/10.3390/genes12010103
dc.identifier.urihttp://hdl.handle.net/11427/35244
dc.identifier.vancouvercitationSpracklen TF, Chakafana G, Schwartz PJ, Kotta M, Shaboodien G, Ntusi NAB, et al. Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications. Genes. 2021;12(1) http://hdl.handle.net/11427/35244.en_ZA
dc.language.isoenen_US
dc.publisher.departmentDepartment of Medicineen_US
dc.publisher.facultyFaculty of Health Sciencesen_US
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en_US
dc.sourceGenesen_US
dc.source.journalissue1en_US
dc.source.journalvolume12en_US
dc.source.urihttps://www.mdpi.com/journal/genes
dc.titleGenetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implicationsen_US
dc.typeJournal Articleen_US
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