Reported herein is the case of a 2-year-old boy with Adams-Oliver syndrome who presented with dilated cardiomyopathy and complete atrioventricular block. The patient had aplasia cutis congenita with partial aplasia of the skull bones, and terminal transverse limb malformations characteristic of the disease. Although congenital cardiac malformations may be associated with the syndrome, dilated cardiomyopathy has not been previously reported to be associated with the syndrome.
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http://dx.doi.org/10.1111/ped.12011 | DOI Listing |
Cureus
November 2024
Department of Cardiology, Liv Hospital Ulus, Istanbul, TUR.
Introduction: Cardiac resynchronization therapy (CRT) has emerged as a pivotal intervention in reducing functional mitral regurgitation (FMR), not only by enhancing global left ventricular (LV) systolic function but also by refining local myocardial synchronization. This study hypothesized that CRT-mediated synchronization of myocardial segments, particularly between papillary muscles, reduces FMR further, independent of the improvement of the LV systolic indices.
Methods: Eighteen patients with dilated cardiomyopathy and biventricular pacing were evaluated.
J Cell Mol Med
December 2024
Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Dilated cardiomyopathy (DCM), a form of non-ischaemic myocardial disease, is characterised by structural and functional cardiac abnormalities. As defined by the World Health Organisation, DCM constitutes a significant cardiac pathology, leading to increased morbidity and mortality due to complications such as heart failure and arrhythmias. The diagnostic process for DCM predominantly employs echocardiography and MRI, with biomarkers like NT-pro BNP and troponin providing supportive, yet non-specific, evidence.
View Article and Find Full Text PDFPediatr Cardiol
December 2024
Faculty of Medicine, Alexandria University, Alexandria, Egypt.
The article "The Influence of Arrhythmia on the Outcomes of Pediatric Patients with Idiopathic Dilated Cardiomyopathy" by Mohammad Dalili et al. provides valuable insights into the impact of arrhythmia on idiopathic dilated cardiomyopathy outcomes. However, it presents with certain limitations.
View Article and Find Full Text PDFThe 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.
View Article and Find Full Text PDFIn cardiac muscle, many myosin molecules are in a resting or "OFF" state with their catalytic heads in a folded structure known as the interacting heads motif (IHM). Many mutations in the human β-cardiac myosin gene that cause hypertrophic cardiomyopathy (HCM) are thought to destabilize (decrease the population of) the IHM state. The effects of pathogenic mutations on the IHM structural state are often studied using indirect assays, including a single-ATP turnover assay that detects the super-relaxed (SRX) biochemical state of myosin functionally.
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