TY  - JOUR
A1  - Gerull, Brenda
A1  - Brodehl, Andreas
T1  - Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy
T2  - Current Heart Failure Reports
N2  - 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, 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.
KW  - dilated cardiomyopathy
KW  - arrhythmogenic cardiomyopathy
KW  - junctions
KW  - sudden cardiac death
KW  - cardiovascular genetics
KW  - desmosomes
Y1  - 2021
UR  - https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/26991
UR  - https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-269916
SN  - 1546-9549
VL  - 18
IS  - 6
ER  -