Journal
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Volume 21, Issue 18, Pages -Publisher
MDPI
DOI: 10.3390/ijms21186615
Keywords
arrhythmogenic cardiomyopathy; genetics; arrhythmogenic right ventricular cardiomyopathy; desmosome; cardiac arrhythmia; sudden cardiac death; genotype phenotype correlation
Funding
- National Institutes of Health [HL134885]
- Mayo Clinic Foundation for Medical Education and Research
- Paul and Ruby Tsai Foundation
- Winkelman Family Fund
- MRC UK Clinical Academic Partnership Award
- MRC [MR/T005181/1] Funding Source: UKRI
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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.
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