Cardiomyopathies are a diverse group of cardiac disorders with distinct phenotypes, depending on the proteins and pathways affected. A substantial proportion of cardiomyopathies are inherited and those will be the focus of this review article. With the wide application of high-throughput sequencing in the practice of clinical genetics, the roles of novel genes in cardiomyopathies are recognised. Here, we focus on a subgroup of cardiomyopathy genes [TTN, FHL1, CSRP3, FLNC and PLN, coding for Titin, Four and a Half LIM domain 1, Muscle LIM Protein, Filamin C and Phospholamban, respectively], which, despite their diverse biological functions, all have important signalling functions in the heart, suggesting that disturbances in signalling networks can contribute to cardiomyopathies.
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http://dx.doi.org/10.1007/s10974-017-9487-3 | DOI Listing |
Curr Cardiol Rep
January 2025
Cardiovascular Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Purpose Of Review: This review aims to explore how a diagnosis of LMNA-related cardiomyopathy (LMNA-CM) informs clinical management, focusing on the prevention and management of its complications, through practical clinical strategies.
Recent Findings: Longitudinal studies have enhanced our understanding of the natural history of LMNA-CM including its arrhythmic and non-arrhythmic complications. A LMNA specific ventricular arrhythmia risk prediction strategy has been integrated into clinical practice guidelines.
A new form of stethoscope with artificial intelligence (AI) capabilities may make the difference between early detection of pregnancy-induced cardiomyopathy or end stage postpartum heart failure. The AI stethoscope is a tool that may make that difference.
View Article and Find Full Text PDFEur J Clin Invest
January 2025
Second Department of Cardiology, Hippokration General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Background: Transthyretin amyloid cardiomyopathy (ATTR-CM) commonly leads to heart failure but has traditionally been an exclusion criterion in randomized clinical trials (RCTs) of sodium-glucose cotransporter 2 inhibitors (SGLT2i); therefore, the effects of these drugs in this population remain undocumented. In light of recent studies, this meta-analysis aimed to investigate the effect of SGLT2i on the prognosis of patients with ATTR-CM.
Methods: A comprehensive search of Medline, Scopus, and the Cochrane Library was conducted up to November 17, 2024.
J Clin Ultrasound
January 2025
Department of Gastroenterology, The Second Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is the classic phenotype of arrhythmogenic cardiomyopathy. ARVC in twins have been reported rarely. Herein, we report an unusual case of young monozygotic twins with early disease onset presenting different course of disease progression and clinical manifestations.
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