Peripartum cardiomyopathy: a global effort to find the cause and cure for the rare and little understood disease

Amy Li; K Campbell; S Lal; Y Ge; A Keogh; P S Macdonald; P Lau; John Lai; W A Linke; J Van der Velden; A Field; B Martinac; M Grosser; Cristobal Dos Remedios

doi:10.1007/s12551-022-00930-0

Peripartum cardiomyopathy: a global effort to find the cause and cure for the rare and little understood disease

Biophys Rev. 2022 Jan 24;14(1):369-379. doi: 10.1007/s12551-022-00930-0. eCollection 2022 Feb.

Authors

Amy Li^{1

2

3}, K Campbell⁴, S Lal³, Y Ge⁵, A Keogh^{6

7}, P S Macdonald^{8

9}, P Lau¹⁰, John Lai¹¹, W A Linke¹², J Van der Velden¹³, A Field¹⁴, B Martinac⁹, M Grosser¹⁵, Cristobal Dos Remedios^{3

9}

Affiliations

¹ Department of Pharmacy & Biomedical Sciences, La Trobe University, Bendigo, VIC Australia.
² Centre for Healthy Futures, Torrens University, Pyrmont, Australia.
³ Sydney Heart Bank, University of Sydney, Sydney, Australia.
⁴ Department of Physiology, University of Kentucky, Lexington, KY USA.
⁵ Department of Cell and Regenerative Biology, Department of Chemistry, Human Proteomics Program, University of Wisconsin-Madison, Madison, WI USA.
⁶ Heart Transplant Unit, St Vincent's Public Hospital, Victoria St, Darlinghurst 2010, Sydney, Australia.
⁷ University of New South Wales, Kensington, Australia.
⁸ St Vincent's Hospital Cardiology, Darlinghurst, Australia.
⁹ Victor Chang Cardiac Research Institute, 405 Liverpool St, Darlinghurst, Australia.
¹⁰ Australian Genome Research Facility, Melbourne, Australia.
¹¹ Australian Genome Research Facility, Brisbane, Australia.
¹² Clinic for Cardiology and Pneumology, University Medical Center, Göttingen, Germany.
¹³ VU University Medical Center, Amsterdam, The Netherlands.
¹⁴ St Vincent's Hospital Pathology, Darlinghurst, Australia.
¹⁵ 23Strands, 107 Pirramina Rd, Pyrmont, Australia.

Abstract

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.

Keywords: Gene mutation in cardiomyocytes; Heart failure in pregnancy; Peripartum cardiomyopathy.

Publication types

Review

Abstract

Publication types

Grants and funding