Diagnostic Criteria, Genetics, and Molecular Basis of Arrhythmogenic Cardiomyopathy

Cristina Basso; Kalliopi Pilichou; Barbara Bauce; Domenico Corrado; Gaetano Thiene

doi:10.1016/j.hfc.2018.01.002

Diagnostic Criteria, Genetics, and Molecular Basis of Arrhythmogenic Cardiomyopathy

Heart Fail Clin. 2018 Apr;14(2):201-213. doi: 10.1016/j.hfc.2018.01.002.

Authors

Cristina Basso¹, Kalliopi Pilichou², Barbara Bauce², Domenico Corrado², Gaetano Thiene²

Affiliations

¹ Department of Cardiac, Thoracic, and Vascular Sciences, University of Padova Medical School, Padova, Italy. Electronic address: cristina.basso@unipd.it.
² Department of Cardiac, Thoracic, and Vascular Sciences, University of Padova Medical School, Padova, Italy.

PMID: 29525648
DOI: 10.1016/j.hfc.2018.01.002

Abstract

Arrhythmogenic cardiomyopathy (AC) is an inherited heart muscle disease characterized by myocardial atrophy and fibrofatty replacement of the ventricular myocardium, at risk of sudden cardiac death, particularly in the young and athletes. Because there is no "gold standard" to reach the diagnosis of AC, multiple categories of diagnostic information have been combined, including imaging, electrocardiographic changes, arrhythmias, tissue characterization, and family history. However, the routine use of contrast-enhanced cardiac magnetic resonance increasingly revealed left dominant AC, a variant that is not well addressed in the diagnostic criteria and still escapes clinical identification.

Keywords: Arrhythmogenic right ventricular cardiomyopathy; Desmosomes; Implantable cardioverter defibrillator; Sudden cardiac death.

Publication types

Review

MeSH terms

Arrhythmogenic Right Ventricular Dysplasia* / diagnosis
Arrhythmogenic Right Ventricular Dysplasia* / genetics
Arrhythmogenic Right Ventricular Dysplasia* / metabolism
Diagnostic Imaging / methods*
Genetic Testing / methods*
Humans
Myocardium / metabolism*