Evolving spectrum of arrhythmogenic cardiomyopathy: Implications for Sports Cardiology

Abstract

Arrhythmogenic cardiomyopathy (ACM) is a genetic heart muscle disease, structurally characterized by progressive fibro-fatty replacement of the normal myocardium and clinically by ventricular arrhythmias (VAs). Predominantly thanks to the use of cardiac magnetic resonance, we have learnt that the spectrum of the disease encompasses not only the classical right ventricular phenotype, but also biventricular and left dominant variants. Sport activity contributes to the phenotypic expression and progression of ACM and may trigger life-threatening VAs and sudden cardiac death (SCD). We conducted a review of the literature about ACM and its implications in Sport Cardiology and summarized the main findings in this topic. Early identification of affected athletes through preparticipation screening (PPS) is fundamental but, while classical right-ventricular or biventricular phenotypes are usually suspected because of electrocardiogram (ECG) and echocardiographic abnormalities, variants with predominant left ventricular involvement are often characterized by normal ECG and unremarkable echocardiography. Usually the only manifestations of such variants are exercise-induced VAs and for this reason exercise testing may empower the diagnostic yield of the PPS. Patients with ACM are not eligible to competitive sports activity, but low-to-moderate intensity physical activity under medical supervision is possible in most cases.

Keywords: arrhythmogenic cardiomyopathy; athletes; preparticipation screening; sports cardiology; sudden cardiac death.

Figure 1

CMR images showing the three variants of arrhythmogenic cardiomyopathy. Cine image in short‐axis view (systolic frame) showing multiple sacculations of the RV walls (white arrows) of a right‐dominant variant of arrhythmogenic cardiomyopathy (A, B); adapted from Cipriani et al. Postcontrast phase in short axis (C) and 2‐chambers view (D) of a left‐dominant variant in a 23‐year‐old female patient with mutations in desmoplakin gene and in junction plakoglobin gene; adapted from Graziano et al. Postcontrast phase in short axis (E) and 4‐chambers view (F) of a biventricular variant in a 39‐year‐old male patient with desmocollin‐2 gene mutation; adapted from Graziano et al.

Figure 2

Flowchart for phenotypic characterization of arrhythmogenic cardiomyopathy. ACM, arrhythmogenic cardiomyopathy; ALVC, arrhythmogenic left ventricular cardiomyopathy; ARVC, arrhythmogenic right ventricular cardiomyopathy; LV, left ventricle; RV, right ventricle. Reproduced from Graziano et al.

Figure 3

A 26‐year‐old competitive hockey player presented with a normal ECG (A), and frequent PVBs with right bundle branch block/superior axis morphology at high workload during exercise testing (B, red asterisks). The echocardiography was normal but post‐contrast sequences on CMR revealed a subepicardial stria of LGE with a “ring‐like” pattern, involving the anterior, lateral and inferior LV walls in their basal and medium portions (white arrows; C, short‐axis view; D, 4‐chamber view). As genetic testing was positive for desmoplakin gene mutation a diagnosis of ALVC was made. Adapted from Brunetti et al.

Figure 4

Recommendations of the European Society of Cardiology, American Heart Association, and Italian Society of Sports Cardiology in individuals with arrhythmogenic cardiomyopathy., , ACM, arrhythmogenic cardiomyopathy; ARVC, arrhythmogenic right ventricular cardiomyopathy; ICD, implantable cardioverter defibrillator; PVCs, premature ventricular contractions; VAs, ventricular arrhythmias.