3 results match your criteria: "Cardiomyopathy Unit Careggi University Hospital Florence Italy.[Affiliation]"
J Am Heart Assoc
October 2024
Department of Medical Biotechnologies, Sports Cardiology and Rehab Unit University of Siena Italy.
Cardiomyopathies are a heterogeneous collection of diseases that have in common primary functional and structural abnormalities of the heart muscle, often genetically determined. The most effective categorization of cardiomyopathies is based on the presenting phenotype, with hypertrophic, dilated, arrhythmogenic, and restrictive cardiomyopathy as the prototypes. Sex modulates the prevalence, morpho-functional manifestations and clinical course of cardiomyopathies.
View Article and Find Full Text PDFJ Am Heart Assoc
April 2020
Genetic testing for hypertrophic cardiomyopathy (HCM) is an established clinical technique, supported by 30 years of research into its genetic etiology. Although pathogenic variants are often detected in patients and used to identify at-risk relatives, the effectiveness of genetic testing has been hampered by ambiguous genetic associations (yielding uncertain and potentially false-positive results), difficulties in classifying variants, and uncertainty about genotype-negative patients. Recent case-control studies on rare variation, improved data sharing, and meta-analysis of case cohorts contributed to new insights into the genetic basis of HCM.
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