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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.

SUBMITTER: Cemin R

PROVIDER: S-EPMC3780342 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature

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Peripartum cardiomyopathy: moving towards a more central role of genetics.

Cemin Roberto R Janardhanan Rajesh R Donazzan Luca L Daves Massimo M

Current cardiology reviews 20130801 3

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 ...[more]

PMID: 23909634

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Project description:The burden of pregnancy-related heart disease has dramatically increased over the last decades due to the increasing age at first pregnancy and higher prevalence of cardiovascular risk factors such as diabetes, hypertension, and obesity. Pregnancy is associated with physiological changes in the cardiovascular system, including hemodynamic, metabolic, and hormonal adaptations to meet the increased metabolic demands of the mother and fetus. It has been postulated that pregnancy may act as a cardiovascular stress test to identify women at high risk for heart disease, where the inability to adequately adapt to the physiologic stress of pregnancy may reveal the presence of genetic susceptibility to cardiovascular disease or accelerate the phenotypic expression of both inherited and acquired heart diseases, such as peripartum cardiomyopathy (PPCM). PPCM is a rare and incompletely understood clinical condition. Despite recent advances in the understanding of its pathogenesis, PPCM is not attributable to a well-defined pathological mechanism, and therefore, its diagnosis still relies on the exclusion of overlapping dilated phenotypes. Cardiac imaging plays a key role in any peripartum woman with signs and symptoms of heart failure in establishing the diagnosis, ruling out life-threatening complications, guiding therapy and conveying prognostic information. Echocardiography represents the first-line imaging technique, given its robust diagnostic yield and its favorable cost-effectiveness. Cardiovascular magnetic resonance is a biologically safe high-throughput modality that allows accurate morpho-functional assessment of the cardiovascular system in addition to the unique asset of myocardial tissue characterization as a pivotal piece of information in the pathophysiological puzzle of PPCM. In this review, we will highlight current evidence on the role of multimodality imaging in the differential diagnosis, prognostic assessment, and understanding of the pathophysiological basis of PPCM.

Dataset Information

Peripartum cardiomyopathy: moving towards a more central role of genetics.

Publications

Peripartum cardiomyopathy: moving towards a more central role of genetics.

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