Associazione Nazionale Medici Cardiologi Ospedalieri



A well known cardiomyopathy behind a family drama: a case report

Piscione Mariagrazia Roma(Roma) – Fondazione Policlinico Campus Biomedico | Polito Dajana Roma(Roma) – Fondazione Policlinico Campus Biomedico | Re Federica Roma(Roma) – Ospedale San Camillo Forlanini

We report a case of a 55-years-old woman who came to our regional reference center for cardiomyopathies. Her cardiovascular risk factors were systemic arterial hypertension, dyslipidemia, family history of sudden cardiac death. Her first son -20 years old- had died of sudden cardiac death during a football match, at the peak of the exertion, one year before. The autopsy had showed biventricular, diffuse fibro-fatty replacement areas diagnostic for arrhythmogenic cardiomyopathy. DNA extraction in tissue was evaluated for genetic testing. According to 2022 ESC Guidelines, familial evaluation of descendents of patients died of sudden cardiac death should include: genetic testing, gathering of medical history and performing physical examination, standard and high precordial leads ECG, echocardiography and exercise testing, CMR and ambulatory cardiac rhythm monitoring. All of these were normal, except for cardio RM which revealed: aneurysmatic bulging of the right ventricular wall, most prominent at the apex and free wall with normal contractility. Absence of both left and right ventricular dilatation. Left ventricular and right ventricular ejection fraction measured 58% and 55% respectively. According to Padua’s criteria the woman had borderline arrhythmogenic cardiomyopathy. Instead, her 18 years old little son used to practice sports and used anabolics. His cardio-RMN demonstrated: reduced function of the right ventricle with mild dilation and biventricular bulging areas. The patient met the criteria for definite Arrhythmogenic Cardiomyopathy since he had two major criteria. In the meantime of the results of genetic testing, suspension of the smoking habit and reduction of strenuous physical activity were advised.

Conclusions: Arrhythmogenic displasia of right ventricle is characterized histopathologically by the extensive replacement of right ventricular myocardium with fibro-fatty tissue (dysplasia triangle). Involvement of the left ventricle has been documented on a lesser frequency and has a higher mortality. Different from other conditions, in arrhythmogenic cardiomyopathy, sports practice not only conveys arrhythmic risk to that specific moment (as it happens to the little patient) but also accelerates disease progression.