Families of eight patients with the diagnosis of familiar cardiomyopathy were reviewed. It was possible to study 121 persons, 64 examined in the Instituto Nacional de Cardiología, and 57 through indirect questioning. It was found that in each of the families some disturbance in rhythm or conduction predominated. The evolution among the members of each family was similar, but was different in comparison with the other families. Those patients which presented complete A-V block died before 30 years of age, the majority of sudden death. The disturbances in rhythm or conduction most frequently observed were: complete A-V block, premature ventricular beats, lengthening of the Q-T, incomplete left bundle branch block, atrial fibrillation, Lown-Ganong-Levine syndrome, Wolff-Parkinson-White syndrome, premature supraventricular beats, incomplete right bundle branch block, ventricular fibrillation, and ventricular tachycardia. It can be concluded that: 1) familiar cardiomyopathy is, in reality, a group of distinct illnesses, with a genetic base; 2) the variability of the clinical findings, electrocardiography, and the evolution, depends on the particular type to which a given case corresponds; 3) it is possible that other varieties of familiar cardiomyopathy exist.
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Eur Heart J
January 2025
Department of Research, Centre for Inherited Cardiovascular Diseases, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
In the modern era, cardiologists managing patients and families with cardiomyopathies need to be familiar with every stage of the diagnostic pathway from clinical phenotyping to the prescription and interpretation of genetic tests. This clinical consensus statement from the ESC Council for Cardiovascular Genomics aims to promote the integration of genetic testing into routine cardiac care of patients with cardiomyopathies, as recommended in the 2023 ESC guidelines for cardiomyopathies. The document describes the types of genetic tests currently available and provides advice on their prescription and for counselling after the return of genetic findings, including the approach in patients and families with variants of unknown significance.
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Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', AORN dei Colli, Monaldi Hospital, Naples, Italy.
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Amyloidosis Network Zurich, University Hospital Zurich, Zurich, Switzerland.
Circ Heart Fail
December 2024
Departments of Medicine, Radiology, and Pathology, Brigham and Women's Hospital, Boston, MA (R.Y.K., M.J.-H., P.J., C.Y.H.).
Background: Hypertrophic cardiomyopathy (HCM) is a heterogeneous condition that can lead to atrial fibrillation, heart failure, and sudden cardiac death in many individuals but mild clinical impact in others. The mechanisms underlying this phenotypic heterogeneity are not well defined. The aim of this study was to use plasma proteomic profiling to help illuminate biomarkers that reflect or inform the heterogeneity observed in HCM.
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Department of Cardiology, Inova Schar Heart and Vascular, Inova Schar Cancer, Falls Church, VA.
Heart failure and cancer remain 2 of the leading causes of morbidity and mortality, and the 2 disease entities are linked in a complex manner. Patients with cancer are at increased risk of cardiovascular complications related to the cancer therapies. The presence of cardiomyopathy or heart failure in a patient with new cancer diagnosis portends a high risk for adverse oncology and cardiovascular outcomes.
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