le tecnologie emergenti per il trattamento della cardiomiopatia aritmogena

Arrhythmogenic cardiomyopathy is a progressive genetic disease of the myocardium characterized by myocardial atrophy and fibro-fatty replacement of the ventricular myocardium. It has familial recurrence in about 50% of cases with an autosomal dominant mode of inheritance, with incomplete penetrance and with great phenotypic variability. It is considered one of the main causes of sudden cardiac death (SCD) in young people and athletes. Diagnosis is based on the 2010 Task Force criteria and includes genetic analysis and investigation of characteristic morpho-functional anomalies through electrocardiogram, echocardiography, magnetic resonance, endomyocardial biopsy and voltage mapping. An instrumental evaluation is made. Therapy starts with the stratification of the arrhythmic risk that guides the decision of the ICD implant. Thanks to the 2015 Task Force and a recent predictive model, this decision can be calibrated. Catheter ablation is one alternative for the treatment of ARVC patients who have ventricular tachycardias, but it is not a curative technique as it does not reduce the risk of sudden death. Genetic therapy and heart transplantation are developing approaches thanks to the biomedical research on stamina cells and the "genetic scissors". 3D printing can be used for scaffolds in bioartificial hearts and it offers the possibility to visualize physical models of the patient's heart. Desease preventing progression by monitoring is more and more comfortable and effective thanks to telemedicine. The cascade screening of family members through cardiac evaluation includes ECG, Holter and echocardiography or MRI exams every 2-3 years. In particular cases, a subcutaneous loop recorder can be implanted. The aim of this thesis is to present emerging technologies to support disease treatment, in order to offer useful updates for optimal management and to improve the patient's quality of life.