Peripartum Cardiomyopathy: Moving Towards a More Central Role of Genetics

Abstract

Peripartum cardiomyopathy (PCM) is a relatively rare disease with potentially devasting consequences requiring prompt identification and correct treatment. Overall prognosis is good in majority of the cases, although some patients may progress to irreversible heart failure. Early diagnosis is important and effective treatment reduces mortality rates and increases the chance of complete recovery of ventricular systolic function. The aetiology and pathogenesis seems to be multifactorial and poorly understood, with the available literature rather conflicting. In recent years, there has been increased interest in the role played by genetic predisposition in the development of PCM. It probably develops as a result of a complex interaction of pregnancy-associated factors and genetic factors and recently there have been many observations pointing out the central role played by a genetic predisposition. The direct and indirect observations on genetic susceptibility may offer new insights into the pathogenesis of PCM. However, larger studies are needed before advising routine genetic testing in these patients.

GNB3 C825T Polymorphism and Myocardial Recovery in Peripartum Cardiomyopathy

“…While genetic predispositions have been increasingly recognized as a risk factor for development of PPCM (19, 20), the role genomic background plays in racial differences in myocardial recovery remains largely unexplored. In this study from IPAC, women with PPCM with the GNB3 TT genotype demonstrated a significantly lower LVEF at 6 and 12 months postpartum.…”

Reversible Dilated Cardiomyopathy: Into the Thaumaturgy of the Heart - Part 2

“…Familial occurrence of PPCMP has been described and genetic association has been shown in mice and humans. 63,64 Recently, a large study on 172 PPCMP patients, showed a prevalence of truncating variants (especially in the Titin gene) similar to DCM patients, suggesting that these variants may predispose to the condition. 65 Myocarditis appears to be the main pathophysiological mechanism in PPCMP.…”

Ενεργειακή Διερεύνηση Και Προσομοίωση Της Μηχανικής Υποστήριξης Της Ανεπαρκούσης Καρδιάς Με Αποδοτικό Σύστημα

“…Συχνές αιτίες ΚΑ είναι η στεφανιαία νόσος, η αρτηριακή υπέρταση, οι βαλβιδοπάθειες, οι αρρυθμίες, η παχυσαρκία και ο σακχαρώδης διαβήτης. Απαριθμούνται αρκετοί τύποι καρδιομυοπαθειών• διατατική [183][184][185] , υπερτροφική [186][187][188] , περιοριστική [189][190][191] , μιτοχονδριακή [192][193][194][195] , Takotsubo [196][197][198] , αλκοολική 199,200 , περιγεννητική [201][202][203][204] και η αρρυθμιογόνος καρδιομυοπάθεια της δεξιάς κοιλίας 205 .…”

“…Άλλες αιτίες ΚΑ περιλαμβάνουν τις περικαρδιακές νόσους 252,253 , την αποφρακτική υπνική άπνοια 254,255 , την ακτινοβόληση 256,257 , το τραύμα [258][259][260] . Ωστόσο, η ΚΑ μπορεί να συνοδεύεται από αυξημένη καρδιακή παροχή 261 όπως σε περιπτώσεις αρτηριοφλεβώδους επικοινωνίας 262 , νεφρικής νόσου 263,264 , νόσου Paget 265,266 , υπερθυρεοειδισμού [267][268][269] , αναιμίας, έλλειψη βιταμίνης Β1 (υγρό beriberi [270][271][272][273][274] ) και εγκυμοσύνης 202,203,275 .…”