The aim of this study is Peripartum cardiomyopathy (PPCM) is a rare form of heart failure occurring in the last trimester of pregnancy or in the first months after delivery.1 The diagnosis is based on exclusion criteria, and specific biomarkers remain unidentified.1 Proposed mechanisms of PPCM pathophysiology are based on various mouse models harboring cardiac-specific genetic defects,2,3 which demonstrated typical PPCM characteristics, but mutations in these genes remain to be associated with PPCM in patients.4 This study aims to identify aberrant pathways in cardiomyocytes obtained from induced pluripotent stem cells (iPSC) derived from patients with PPCM.
Two patients with PPCM with acute heart failure (diagnosed within weeks after delivery) have been included in the study. Patients A and B were aged 37 and 28 years with a left ventricular ejection fraction of 17% and 45% and elevated levels of N-terminal pro-B-type natriuretic peptide 1309 ng/L and 2743 ng/L at presentation, respectively. Patient A was compared with her sister and patient B with her mother in paired analyses; both controls were healthy, had a normal echocardiogram, and have had multiple uncomplicated deliveries. Patients were screened for genetic variations in 61 genes associated with cardiomyopathies, but none was identified. All participants provided written informed consent. This study was approved by the local Medical Ethical Committee.
Reference link- https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.119.044962