Genetic and Environmental Contributors To Congenital Heart Disease.

IF 0.8 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS

Current Treatment Options in Cardiovascular Medicine Pub Date : 2025-01-01 Epub Date: 2025-05-26 DOI:10.1007/s11936-025-01091-5

Talita Z Choudhury, Benjamin L Gilbert, Vidu Garg

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引用次数: 0

Abstract

Purpose of review: Paradigms surrounding congenital heart disease (CHD) etiology represent an evolving area of study. Traditionally, genetic causes of CHD have been classified into chromosomal abnormalities, copy number variation, and single-gene disorders, while environmental contributors include external and intrinsic maternal factors that impair cardiac development. Here, we summarize established causes of CHD and highlight emerging insights into CHD pathogenesis that may inform future treatment options.

Recent findings: Recent advancements in next-generation sequencing technologies have uncovered novel genetic etiologies underlying CHD including oligogenic inheritance and pathogenic noncoding variation. In addition, industrialization and transformation of society has introduced new environmental risk factors that may contribute to CHD. Further, mechanistic insight into both genetic and environmental factors underlying CHD has led to discovery of novel therapeutic strategies.

Summary: New methodologies have greatly improved our comprehension of the heterogeneous mechanisms underlying CHD, catalyzing the discovery of effective therapeutic strategies to reduce CHD incidence.

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遗传和环境因素导致先天性心脏病。

综述的目的：围绕先天性心脏病（CHD）病因的范式代表了一个不断发展的研究领域。传统上，冠心病的遗传原因分为染色体异常、拷贝数变异和单基因疾病，而环境因素包括损害心脏发育的外部和内在母体因素。在这里，我们总结了冠心病的已知原因，并强调了对冠心病发病机制的新见解，这些见解可能为未来的治疗选择提供信息。最新发现：新一代测序技术的最新进展揭示了冠心病的新遗传病因，包括寡基因遗传和致病性非编码变异。此外，工业化和社会转型引入了新的环境风险因素，可能导致冠心病的发生。此外，对CHD的遗传和环境因素的机制了解已经导致了新的治疗策略的发现。新方法极大地提高了我们对冠心病异质性机制的理解，促进了有效治疗策略的发现，以降低冠心病的发病率。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Current Treatment Options in Cardiovascular Medicine Medicine-Cardiology and Cardiovascular Medicine

CiteScore

2.00

自引率

0.00%

发文量

期刊介绍： This journal aims to review the most important, recently published treatment-related advances in cardiovascular medicine. By providing clear, insightful, balanced contributions by international experts, the journal intends to elucidate novel approaches to treatment in those affected by the spectrum of cardiovascular-related diseases and conditions. We accomplish this aim by appointing international authorities to serve as Section Editors in key subject areas, such as coronary artery disease, cerebrovascular disease and stroke, heart failure, pediatric and congenital heart disease, and valvular, myocardial, pericardial, and cardiopulmonary diseases. Section Editors, in turn, select topics for which leading experts contribute comprehensive review articles that emphasize new developments and recently published papers of major importance, highlighted by annotated reference lists. We also provide commentaries from well-known figures in the field, and an international Editorial Board reviews the annual table of contents, suggests articles of special interest to their country/region, and ensures that topics are current and include emerging research.