Publications by authors named "Fiama Caimi-Martinez"
Article Synopsis
- * It analyzed data from 49 patients, revealing a 63% penetrance and showing that men had earlier symptom onset compared to women, with only 20% presenting the classic AFD symptoms.
- * Nearly 20% of patients experienced significant cardiovascular and renal events, and the study highlights the importance of understanding this variant's effects for better clinical management and awareness of AFD progression.
Introduction: Arrhythmogenic cardiomyopathy (ACM) is an inherited disease characterized by progressive fibroadipose replacement of cardiomyocytes. Its diagnosis is based on imaging, electrocardiographic, histological and genetic/familial criteria. The development of the disease is based mainly on desmosomal genes.
View Article and Find Full Text PDFHypertrophic cardiomyopathy (HCM) is a genetic disease characterised by increased left ventricle (LV) wall thickness caused by mutations in sarcomeric genes. Finding a causal mutation can help to better assess the proband's risk, as it allows the presence of the mutation to be evaluated in relatives and the follow-up to be focused on carriers. We performed an observational study of patients with HCM due to the novel p.
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