The present case report describes a mother and son with arrhythmogenic cardiomyopathy (ACM) with early and greater left ventricle (LV) involvement. The presence of curly hair in both, together with the resuscitated sudden cardiac death of the mother, allowed timely genetic testing, which found a pathogenic nonsense mutation of the desmoplakin gene. While asymptomatic from an arrhythmic point of view, the son’s evolution was characterized by a well-documented exercise-induced myocarditis-like stage.
Heart failure is a life-threatening disease and it has become a priority for the global public health system nowadays, given the fact that in Europe, over 10% of the people over 65 years old are affected by this rapidly progressive pathology with high morbidity and mortality rates. In developed countries, where life expectancy is continuously increasing, the prevalence of heart failure is directly proportional, therefore the specific treatment aims not only to improve the survival, but also to increase the quality of life, which had become an important issue. This aspect was highlighted by the randomized clinical Trials carried out in the recent years that included quality of life between the major therapeutic goals in patients with heart failure. Therefore, a careful analysis of all the factors that lead to the improvement of the symptoms of heart failure or in contrast, of the precipitating factors that lead to cardiac decompensations, is necessary to define the impact on the quality of life of these patients.
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