Researchers discover new mutations in gene associated with disease that causes the heart to weaken

(Intermountain Medical Center) Researchers from the Intermountain Healthcare Heart Institute in Salt Lake City have identified new mutations in a gene commonly associated with non-ischemic dilated cardiomyopathy (NIDC), a disease that weakens the heart muscle, making it more difficult to adequately circulate blood to meet the body's needs.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news

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Condition:   Non-ischemic Dilated Cardiomyopathy Intervention:   Other: ICD/CRT-D implantation Sponsors:   Prof. Dr. med. Ingo Eitel;   Deutsches Zentrum für Herz-Kreislauf-Forschung (DZHK) Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
PMID: 32955937 [PubMed - as supplied by publisher]
Source: Circulation - Category: Cardiology Authors: Tags: Circulation Source Type: research
Conclusion: The spatial QRS-T angle and Twvm are emerging VCG indices which are independently associated with mortality in patients with reduced left ventricular ejection fraction due to ICMP or NICMP. Using a composite score of all 3 vector indices, a maximum score was associated with poor long-term survival.Cardiology
Source: Cardiology - Category: Cardiology Source Type: research
Authors: Bennett M, Joshi SS, Denvir M Abstract BACKGROUND: The aim of this study was to explore variations in cost and choice of travel insurance in patients with cardiac disease. METHODS: Clinical data from patients with myocardial infarction (MI, n = 20), Marfan syndrome (MFS, n = 10) and dilated cardiomyopathy (DCM, n = 10) were input to insurance websites for a proposed ten-day holiday and data for premium cost (£) and choice of quotes (n) collated for each condition. Age-matched healthy individuals were used as controls. RESULTS: Median cost of insurance was significantly higher for MI (£2...
Source: Journal of the Royal College of Physicians of Edinburgh - Category: General Medicine Tags: J R Coll Physicians Edinb Source Type: research
Conclusions: Downregulation of Cypher participates in the promotion of cardiomyocytes apoptosis through inhibiting Akt dependent pathway and enhancing p38 MAPK phosphorylation. These findings may provide a new potential therapeutic strategy for the treatment of DCM. PMID: 32922198 [PubMed - in process]
Source: International Journal of Medical Sciences - Category: Biomedical Science Tags: Int J Med Sci Source Type: research
The early diagnosis of genetically determined dilated cardiomyopathy (DCM) could improve the prognosis in mutation carriers. Left ventricular global longitudinal strain (LV GLS) and peak left atrial longitudinal strain (PALS) are promising techniques for the detection of subtle systolic and diastolic dysfunction. We sought to evaluate the prevalence of subtle systolic and diastolic dysfunction by LV GLS and PALS in a cohort of genotype-positive phenotype-negative (GPFN) DCM relatives.
Source: International Journal of Cardiology - Category: Cardiology Authors: Source Type: research
by Aviva Levitas, Emad Muhammad, Yuan Zhang, Isaac Perea Gil, Ricardo Serrano, Nashielli Diaz, Maram Arafat, Alexandra A. Gavidia, Michael S. Kapiloff, Mark Mercola, Yoram Etzion, Ruti Parvari, Ioannis Karakikes Dilated cardiomyopathy (DCM) is a common cause of heart failure and sudden cardiac death. It has been estimated that up to half of DCM cases are hereditary. Mutations in more than 50 genes, primarily autosomal dominant, have been reported. Although rare, recessive mutations are thought to contribu te considerably to DCM, especially in young children. Here we identified a novel recessive mutation in the striated mu...
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
This study tested the hypothesis that early implantation of mitochondria (Mito) into left myocardium could effectively protect heart against doxorubicin/12 mg/kg-induced dilated cardiomyopathy (DCM) in rat. Adult-male SD rats (n = 18) were equally categorized into group 1 (sham control), group 2 (DCM) and group 3 [DCM + Mito (500 μg/rat intramyocardial injection by day-21 after DCM induction)] and euthanized by day 60. In vitro studies showed that exogenously-transferred Mito was abundantly identified in H9C2 cells. The q-PCR showed significant increase in relative number of mitDNA in Mito-transferred H9C2 cells than in control group (P
Source: American Journal of Translational Research - Category: Research Tags: Am J Transl Res Source Type: research
CONCLUSIONS: These findings suggest that the JAK2V617F mutation can alter vascular endothelial function to promote cardiovascular complications in MPNs. Therefore, targeting the MPN vasculature represents a promising new therapeutic strategy for patients with MPNs. PMID: 32920974 [PubMed - as supplied by publisher]
Source: Thrombosis and Haemostasis - Category: Hematology Authors: Tags: J Thromb Haemost Source Type: research
Abstract Two brothers (19 and 18 years old, respectively) presented with weight gain and stunted growth since the age of 10 years. They had spotty skin pigmentation over the face along with florid features of Cushing's syndrome with low bone density, renal calculi, dyslipidaemia, hypertension, and dilated cardiomyopathy. They underwent evaluation of the hypothalamic-pituitary-adrenals axis, which suggested ACTH-independent Cushing's syndrome, and the abdominal CT imaging revealed normal adrenals. The diagnosis of Familial Cushing's syndrome with primary pigmented nodular adrenal disease and Carney complex was made...
Source: Pediatric Endocrinology, Diabetes, and Metabolism - Category: Endocrinology Authors: Tags: Pediatr Endocrinol Diabetes Metab Source Type: research
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