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非洲裔人群成年起病特发性扩张型心肌病的遗传学基础。

The genetic basis for adult-onset idiopathic dilated cardiomyopathy in people of African descent.

机构信息

Division of Cardiology, Department of Internal Medicine, School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Charlotte Maxeke Johannesburg Academic Hospital, 17 Jubilee Road, Parktown, Johannesburg, Gauteng, 2193, South Africa.

Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

出版信息

Heart Fail Rev. 2023 Jul;28(4):879-892. doi: 10.1007/s10741-023-10302-9. Epub 2023 Mar 14.

Abstract

Cardiomyopathies are a heterogeneous group of cardiac muscle disorders that result in dilated, hypertrophic, or restrictive pathophysiological entities. Dilated cardiomyopathy (DCM) is the most common form in sub-Saharan Africa (SSA). However, population-specific research studies reporting the actual burden of DCM in this region are still lacking. Also, little is known about the genetic basis of DCM in this population, and genetic testing is still not readily accessible. This review describes the common pathogenic genes implicated in DCM globally and discusses the evidence-based management of patients with DCM. We also present a summary of studies describing genes implicated or associated with DCM in patients residing in SSA.

摘要

心肌病是一组异质性的心肌疾病,可导致扩张型、肥厚型或限制型病理生理实体。在撒哈拉以南非洲(SSA),扩张型心肌病(DCM)是最常见的形式。然而,该地区仍缺乏针对 DCM 实际负担的具体人群研究。此外,人们对该人群 DCM 的遗传基础知之甚少,遗传检测也不容易获得。本综述描述了全球 DCM 相关的常见致病基因,并讨论了 DCM 患者的循证管理。我们还总结了描述 SSA 患者中与 DCM 相关或相关的基因的研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aa4/10289998/7ccd5cb30be2/10741_2023_10302_Fig1_HTML.jpg

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