4.7 Review

State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy

期刊

出版社

MDPI
DOI: 10.3390/ijms21186615

关键词

arrhythmogenic cardiomyopathy; genetics; arrhythmogenic right ventricular cardiomyopathy; desmosome; cardiac arrhythmia; sudden cardiac death; genotype phenotype correlation

资金

  1. National Institutes of Health [HL134885]
  2. Mayo Clinic Foundation for Medical Education and Research
  3. Paul and Ruby Tsai Foundation
  4. Winkelman Family Fund
  5. MRC UK Clinical Academic Partnership Award
  6. MRC [MR/T005181/1] Funding Source: UKRI

向作者/读者索取更多资源

Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy characterised by ventricular arrhythmia and an increased risk of sudden cardiac death (SCD). Numerous genetic determinants and phenotypic manifestations have been discovered in ACM, posing a significant clinical challenge. Further to this, wider evaluation of family members has revealed incomplete penetrance and variable expressivity in ACM, suggesting a complex genotype-phenotype relationship. This review details the genetic basis of ACM with specific genotype-phenotype associations, providing the reader with a nuanced perspective of this condition; whilst also proposing a future roadmap to delivering precision medicine-based management in ACM.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.7
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据