Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy
Please always quote using this URN: urn:nbn:de:bvb:20-opus-269916
- Purpose of Review Arrhythmogenic cardiomyopathy (ACM) is a genetic disease characterized by life-threatening ventricular arrhythmias and sudden cardiac death (SCD) in apparently healthy young adults. Mutations in genes encoding for cellular junctions can be found in about half of the patients. However, disease onset and severity, risk of arrhythmias, and outcome are highly variable and drug-targeted treatment is currently unavailable. Recent Findings This review focuses on advances in clinical risk stratification, genetic etiology, andPurpose of Review Arrhythmogenic cardiomyopathy (ACM) is a genetic disease characterized by life-threatening ventricular arrhythmias and sudden cardiac death (SCD) in apparently healthy young adults. Mutations in genes encoding for cellular junctions can be found in about half of the patients. However, disease onset and severity, risk of arrhythmias, and outcome are highly variable and drug-targeted treatment is currently unavailable. Recent Findings This review focuses on advances in clinical risk stratification, genetic etiology, and pathophysiological concepts. The desmosome is the central part of the disease, but other intercalated disc and associated structural proteins not only broaden the genetic spectrum but also provide novel molecular and cellular insights into the pathogenesis of ACM. Signaling pathways and the role of inflammation will be discussed and targets for novel therapeutic approaches outlined. Summary Genetic discoveries and experimental-driven preclinical research contributed significantly to the understanding of ACM towards mutation- and pathway-specific personalized medicine.…
Author: | Brenda Gerull, Andreas Brodehl |
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URN: | urn:nbn:de:bvb:20-opus-269916 |
Document Type: | Journal article |
Faculties: | Medizinische Fakultät / Deutsches Zentrum für Herzinsuffizienz (DZHI) |
Language: | English |
Parent Title (English): | Current Heart Failure Reports |
ISSN: | 1546-9549 |
Year of Completion: | 2021 |
Volume: | 18 |
Issue: | 6 |
Pagenumber: | 378–390 |
Source: | Current Heart Failure Reports 2021, 18(6):378–390. DOI: 10.1007/s11897-021-00532-z |
DOI: | https://doi.org/10.1007/s11897-021-00532-z |
Pubmed Id: | https://pubmed.ncbi.nlm.nih.gov/34478111 |
Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Tag: | arrhythmogenic cardiomyopathy; cardiovascular genetics; desmosomes; dilated cardiomyopathy; junctions; sudden cardiac death |
Release Date: | 2022/06/14 |
Licence (German): | CC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International |