Peripartum Cardiomyopathy: Moving Towards a More Central Role of Genetics
Roberto Cemin, Rajesh Janardhanan, Luca Donazzan and Massimo Daves
Affiliation: Department of Cardiology, San Maurizio Regional Hospital of Bolzano, Via L. Boehler 5, 39100 Bolzano, Italy.
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.
Keywords: Peripartum cardiomyopathy, heart failure, echocardiogaraphy.
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