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• W3208755507 startingPage "101459" @default.
• W3208755507 abstract "Arrhythmogenic cardiomyopathy (ACM) is an emerging new concept of a life-threatening heart muscle disorder due not only to desmosome gene mutations but also to non-desmosome genes, such as filamin C, lamin A/C, phospholamban, transmembrane protein 43, titin, SCN5A, and RNA binding motif protein 20. Multi-modality imaging along with genetic testing are important tools for risk stratification to tailor treatment to a single patient. Cardiac magnetic resonance imaging (CMR) with late gadolinium enhancement (LGE) is the gold standard for evaluating left and right ventricular structure and function, edema, and fibrosis. The identification of regional fibrosis with LGE has prognostic value. The management of ACM involves several aspects: treatment of arrhythmias and heart failure, risk stratification, implantable cardioverter-defibrillator (ICD) placement, exercise restrictions, and lifestyle changes. The decision for ICD placement in ACM patients is not well established and should be made weighing risks and benefits. However, the presence of specific genotypes can allow a precision medicine approach. In ACM patients with only mild left ventricular dysfunction but phospholamban, filamin C, or lamin A/C mutations, an ICD is now considered a reasonable approach. We sought to provide an overview of clinical and genetic features of arrhythmogenic cardiomyopathy providing epidemiology, imaging, diagnostic, and treatment information, using a systematic genetic approach. ACM is due not only to desmosome gene mutations but also to non-desmosome genes, such as filamin C, lamin A/C, phospholamban, transmembrane protein 43, titin, SCN5A, and RNA binding motif protein 20. The phenotypes of ACM spans from isolated right ventricular to biventricular or predominant left ventricular involvement. Due to heterogeneity, ACM remains an important diagnostic challenge requiring a multimodality imaging approach. -Genetic assessment may implement a precision medicine approach and should always be considered in the risk assessment and management." @default.
• W3208755507 created "2021-11-08" @default.
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• W3208755507 date "2021-12-01" @default.
• W3208755507 modified "2023-09-23" @default.
• W3208755507 title "Clinical and genetic features of arrhythmogenic cardiomyopathy: diagnosis, management and the heart failure perspective" @default.
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• W3208755507 doi "https://doi.org/10.1016/j.ppedcard.2021.101459" @default.
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