A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy

ConclusionOur study has relevance for the clinical and genetic interpretation of further DES indel mutations causing cardiac or skeletal myopathies and might be helpful for risk stratification. We identified a novel indel mutation in DES, encoding the intermediate filament protein desmin, in a patient with skeletal and cardiac myopathy. Functional analysis revealed a severe filament assembly defect in transfected cells and also of the purified recombinant protein. In summary, our functional data suggest that DES‐c.493_520del28insGCGT has to be classified as a likely pathogenic mutation.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research

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We describe two consecutive adult males with incessant dual atrioventricular nodal nonreentrant tachycardia and associated severe cardiomyopathy. After invasive diagnosis, this is the first published report showing the successful outcome of this rare tachycardia with effective cryoablation. Cryothermal lesions in the roof of the proximal coronary sinus and right midseptal area lead to complete resolution of the tachycardia ‐mediated cardiomyopathy in the mid‐term follow‐up of our patients.
Source: Pacing and Clinical Electrophysiology : PACE - Category: Cardiology Authors: Tags: CASE REPORT Source Type: research
(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
ConclusionsLack of ALX/FPR2 induced obesity, reduced the lifespan, amplified leukocyte dysfunction, and facilitated profound inter-organ non-resolving inflammation. Our study shows the integrative and indispensable role of ALX/FPR2 in lipid metabolism, cardiac inflammation-resolution processes, obesogenic aging, and renal homeostasis.
Source: Molecular Metabolism - Category: Endocrinology Source Type: research
Publication date: Available online 15 November 2019Source: Canadian Journal of CardiologyAuthor(s): Xiaofei Li, Xiaohan Fan, Shuang Li, Wei Sun, Kalyanam Shivkumar, Shihua Zhao, Minjie Lu, Yan YaoAbstractBACKGROUNDWe aimed to develop a risk score (ESTIMATED) based on late gadolinium enhancement (LGE) cardiac magnetic resonance to predict sudden cardiac death (SCD) in patients with nonischemic dilated cardiomyopathy (NIDCM) and left ventricular ejection fraction ≤35%.METHODS AND RESULTSWe recruited 395 consecutive middle-aged patients with NIDCM and performed 3-years follow-up for SCD events. The score was developed and ...
Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research
We report a 10-year-old female with a history of systemic lupus erythematosus complicated by hypertension and cardiomyopathy secondary to lupus who presented to the emergency department with a history of vision loss and headache.
Source: The American Journal of Emergency Medicine - Category: Emergency Medicine Authors: Source Type: research
In this study, we investigated the role of miR-223-3p in experimental autoimmune myocarditis (EAM). We found that miR-223-3p expression was significantly lower in EAM mice than that in normal mice. miR-223-3p inhibited NLRP3 inflammasome expression, promoting the polarization of dendritic cells (DCs) towards a tolerogenic DC phenotype. miR-223-3p effectively induced regulatory T cell (Treg) generation by inhibiting the function of antigen-presenting DCs. Transfer of miR-223-3p-overexpressing DCs protected mice against the development of EAM. Our findings suggest that miR-223-3p is involved in the induction of the tolerogen...
Source: Molecular Immunology - Category: Allergy & Immunology Source Type: research
(University of Pennsylvania School of Medicine) Women who are diagnosed with peripartum cardiomyopathy (PPCM) during late pregnancy or within a month following delivery are more likely to experience restored cardiac function and improved outcomes compared to those who are diagnosed later in the postpartum period, according to a new study. The findings underscore the need for increased awareness and monitoring of heart failure symptoms, particularly among black women, who, on average, are diagnosed significantly later than white patients, researchers found.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Publication date: Available online 15 November 2019Source: Heart &LungAuthor(s): Özge Turgay Yıldırım, Özge Senem YÜCEL ÇİÇEK
Source: Heart and Lung: The Journal of Acute and Critical Care - Category: Respiratory Medicine Source Type: research
Authors: Mazkereth R, Maayan-Metzger A, Leibovitch L, Schushan-Eisen I, Morag I, Straus T Abstract BACKGROUND: The need for postnatal monitoring of infants exposed to intrauterine beta blockers (BBs) has not been clearly defined. OBJECTIVES: To evaluate infants exposed to intrauterine BBs in order to estimate the need for postnatal monitoring. METHODS: This retrospective case-control study comprised 153 term infants born to mothers who had been treated with BBs during pregnancy. Treatment indications included hypertension 76 mothers (49.7%), cardiac arrhythmias 48 (31.4%), rheumatic heart disease 14 (9.1%),...
Source: The Israel Medical Association Journal - Category: General Medicine Tags: Isr Med Assoc J Source Type: research
In this issue of the International Journal of Cardiology, Dr. Maurizi and colleagues report on the higher than expected prevalence of cardiac amyloidosis in patients undergoing evaluation for hypertrophic cardiomyopathy (HCM) in a tertiary referral center [1]. This carefully performed analysis highlights the clinical overlap of cardiac amyloidosis in a substantial percentage (a total of 9%) of patients who display a phenotype of hypertrophic cardiomyopathy and emphasizes the need to consider cardiac amyloidosis in any patient with ventricular hypertrophy without obvious inciting factor or known hypertrophic mutation.
Source: International Journal of Cardiology - Category: Cardiology Authors: Tags: Editorial Source Type: research
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