Department for Translational Research, Congestive Heart Failure Centre, University Clinic Wuerzburg, Building A15, Am Schwarzberg 15, 97078 Wuerzburg, Germany.
Published: November 2024
AI Article Synopsis
Article Abstract
Hypertrophic cardiomyopathy (HCM) is the most common hereditary cardiomyopathy. It is often caused by mutations of genes encoding for sarcomeric or sarcomere-associated proteins. Despite its clinical importance, divergent definitions are published by major cardiology societies. Some regard HCM as a specific genetic disease, whereas others define it as a broad 'spectrum of the thick heart'. The present narrative review aimed to assess both definitions from a pathoanatomical perspective. As a conjoint interdisciplinary and translational approach is needed to further increase knowledge and improve the understanding of HCM, the PubMed database was searched using several advanced search algorithms to explore the perspectives of the (forensic) pathologist, clinician, and basic researcher regarding the difference between the definitions of HCM. This discrepancy between definitions can impact critical data, such as prevalence and mortality rate, and complicate the understanding of the disease. For example, due to the different definitions, research findings regarding molecular changes from studies applying the narrow definition cannot be simply extended to the 'spectrum' of HCM.
Laboratory Medicine Center, Department of Genetic and Genomic Medicine, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China.
Background: GTPBP3 catalyzes τm(s) U biosynthesis at the 34th wobble position of mitochondrial tRNAs, the hypomodification of τmU leads to mitochondrial disease. While twenty-three variants of GTPBP3 have been reported worldwide, the genetic landscape in China remains uncertain.
Methods: By using whole-exome sequencing, the candidate individuals carrying GTPBP3 variants were screened and identified.
Background: Hypertrophic cardiomyopathy (HCM) is a common heritable heart disease where the most frequently associated mutations occur in the myosin-binding protein C () sarcomere-associated gene. HCM is also a common veterinary clinical problem in certain cat breeds such as Maine Coons and Ragdolls, also most associated with mutations in . Mouse models of HCM in which mutations are introduced recapitulate some, but not all, features of human HCM.
Background: In obstructive hypertrophic cardiomyopathy, myectomy improves symptoms, quality of life, and left ventricular (LV) outflow tract gradients. We prospectively evaluated the temporal changes in various echo parameters after myectomy.
Methods And Results: In 173 adults with obstructive hypertrophic cardiomyopathy (53±10 years, 63% men) who underwent myectomy between March 2017 and June 2020, clinical and blinded echo assessment (before and at 12±6 months follow-up) was performed prospectively (SPIRIT-HCM [Quality of Life and Functional Capacity Following Septal Myectomy in Obstructive Patients With Hypertrophic Cardiomyopathy]).
The 2020 American Heart Association Guidelines advise not to perform mitral valve replacement (MVR) during septal myectomy (SM) to alleviate outflow obstruction. This study aims to review outcomes after concomitant mitral valve (MV) intervention versus SM alone. We conducted a comprehensive literature search across Embase, PubMed, and Scopus.
The super-relaxed (SRX) state of myosin ATPase activity is critical for striated muscle function, and its dysregulation is linked to cardiomyopathies. It is unclear whether the SRX state exchanges readily with the disordered-relaxed (DRX) state, and whether the SRX state directly corresponds to the folded back interacting-head motif (IHM). Using recombinant β-cardiac heavy meromyosin (HMM) and subfragment 1 (S1), which cannot form the IHM, we show that the SRX and DRX populations are in rapid equilibrium, dependent on myosin head-tail interactions.
