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Familial dilated cardiomyopathy [PDF]
Heart, 1994 ardiomyopathies are diseasesof the heart muscle that renderthe heart unable to properlypump enough blood to the body. In thedilated form of cardiomyopathy(called dilated cardiomyopathy orDCM), the heart is enlarged (Figure 1).As the heart enlarges, it becomes lesseffective in pumping blood, whichthen leads to symptoms of heart failureand irregular ...
L. Mestroni +7 more
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Mediators of Inflammation, 2014 Background. TNF-like weak inducer of apoptosis (TWEAK) has been reported to predict mortality in patients with dilated cardiomyopathy. However, whether it can be used as a biomarker for disease monitoring or rather represents a risk factor for disease ...
Kai-Uwe Jarr +3 more
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CK2α Deficiency Drives Myocardial Fibrosis via Desmin‐Induced Mitochondrial Dysfunction
Advanced Science, EarlyView.CK2α preserves mitochondrial homeostasis by phosphorylating Desmin to recruit Cryab, ensuring proper filament assembly. CK2α deficiency disrupts this interaction, causing mitochondrial dysfunction, metabolic shifts, bioenergetic failure, and oxidative stress—ultimately establishing a pro‐fibrotic environment that drives cardiac fibrosis.
Canjie Ma +12 more
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Brazilian Journal of Infectious DiseasesThe idiopathic dilated cardiomyopathy (IDMC) is a disease of the cardiac muscle characterized by systolic dilation and/or dysfunction of one or both ventricles, symptoms of congestive heart failure and risk of early death.
Francisco J.F.B. Reis +4 more
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JACC Cardiovascular Imaging, 2018 Objectives To investigate the association between the extent, location and pattern of LGE and outcome in a large DCM cohort. Background The relationship between late gadolinium enhancement (LGE) and prognosis in dilated cardiomyopathy (DCM) is ...
B. Halliday +16 more
semanticscholar +1 more source
Advanced Science, EarlyView.In response to hypertrophic stimuli, increased c‑JUN phosphorylation upregulates RNF115, leading to SPTBN1 ubiquitination and degradation. which promotes F‑actin depolymerization and YAP activation, driving cardiac hypertrophy. The RNF115 inhibitor DTD effectively suppresses SPTBN1 ubiquitination and cardiac hypertrophy.
Yan Zu +12 more
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Genetics of dilated cardiomyopathy
Annals of Medicine, 2007 Dilated cardiomyopathy (DCM) is a myocardial disease characterized by dilatation and impaired systolic function of the left or both ventricles. The etiology of DCM is multifactorial, and many different clinical conditions can lead to the phenotype of DCM.
Satu, Kärkkäinen, Keijo, Peuhkurinen
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Protein phosphatase 2A anchoring disruptor gene therapy for familial dilated cardiomyopathy
Molecular Therapy: Methods & Clinical DevelopmentFamilial dilated cardiomyopathy is a prevalent cause of heart failure that results from the mutation of genes encoding proteins of diverse function. Despite modern therapy, dilated cardiomyopathy typically has a poor outcome and is the leading cause of ...
Xueyi Li +4 more
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Near missed reversible cardiomyopathy: The value of the electrocardiogram
International Journal of Pediatrics & Adolescent Medicine, 2015 Dilated cardiomyopathy is a devastating disease affecting the myocardium that is characterized by cardiac chamber dilatation with contractile function impairment in the absence of structural heart disease.
Majid Al-Fayyadh +3 more
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The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
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