Scientists find key gene mutations behind inherited heart disease

LONDON (Reuters) - Scientists have identified the crucial genetic mutations that cause a common heart condition called dilated cardiomyopathy (DCM), paving the way for more accurate diagnosis and screening of high-risk patients.
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news

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Heart failure (HF) with reduced contractile function is a common and lethal syndrome in which the heart cannot pump blood to adequately meet bodily demands, resulting in high mortality despite the current standard of care. In modern societies, the most common drivers of HF are ischemic heart disease and hypertension. However, in a substantial subset of cases, patients present with dilated and poorly contracting hearts without evidence of common inciting stressors, a syndrome called dilated cardiomyopathy (DCM). Genome sequencing has identified a host of deleterious germline variants in key cardiomyocyte genes as causes of ...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
ConclusionNuclear localization of OPN in cardiomyocytes of patients with CAV was evident at the time of cardiac retransplant as well as in patients with DCM at the time of the 1st transplant. The results implicate nuclear OPN as a novel biomarker for severe CAV and DCM.
Source: Frontiers in Physiology - Category: Physiology Source Type: research
AbstractBackgroundTachycardia-induced cardiomyopathy (TCM) has been known for decades as a  reversible form of non-ischemic cardiomyopathy. However, its mechanism and characteristics remain poorly understood.ObjectivesThis retrospective study investigated endomyocardial biopsy (EMB) samples from consecutive patients with TCM and compared them with samples from patients with dilated cardiomyopathy (DCM) and inflammatory cardiomyopathy (InCM).Materials and methodsA total of 684 patients (18  TCM, 170 DCM, 496 InCM) with recent-onset heart failure and reduced ejection fraction unrelated to valvular or ischemic heart...
Source: Herzschrittmachertherapie und Elektrophysiologie - Category: Cardiology Source Type: research
AimsThe prevalence and hospitalizations of patients with heart failure (HF) aged
Source: European Journal of Heart Failure - Category: Cardiology Authors: Tags: Research Article Source Type: research
AbstractPatients withLMNA mutation ‐related heart disease are characterized by conduction abnormalities, ventricular tachyarrhythmias, and high risk of sudden cardiac death with mildly impaired systolic function, often without chamber dilation. Here, we presented three unrelated cases withLMNA mutation exhibited unusual cardiac phenotype of marked LV dilation, significant reduced ejection fraction with reginal wall akinesis, and transmural enhancement with a predilection of lateral wall on cardiovascular magnetic resonance (CMR). These three patients were found to have confirmed pathologicalLMNA mutations (c.1621C  ...
Source: ESC Heart Failure - Category: Cardiology Authors: Tags: Case Report Source Type: research
AbstractAimsThe prevalence and hospitalizations of patients with heart failure (HF) aged
Source: European Journal of Heart Failure - Category: Cardiology Authors: Tags: Research Article Source Type: research
Abstract BACKGROUND: Chronic valvular heart disease leads to systolic dysfunction and left atrial enlargement that ultimately results in heart failure. PURPOSE: To investigate prognostic importance of Echocardiography and plasma natriuretic peptide levels that increase as a compensatory response and can be used as predictive markers for cardiac hypertrophy. MATERIAL AND METHODS: The patients were divided into three groups: 51 with left ventricle hypertrophy due to aortic valve disease; 126 with left atrial enlargement due to mitral valve dysfunction; and 76 with both conditions. Atrial natriuretic peptid...
Source: Acta Radiologica - Category: Radiology Authors: Tags: Acta Radiol Source Type: research
In this study we aimed to evaluate management strategies in our pediatric cardiac transplantation candidates with PH and high PVR prior to OHT. METHOD: Twenty-six cardiac transplantation candidates (age: 10.2 ± 4.6, 1-17 years) underwent cardiac catheterization for the determination of PVR and pulmonary arterial pressure. They were admitted to the hospital and received 1-3 days of intravenous (IV) vasodilator therapy; 0.5-3 μg/kg/min nitroglyserin and/or 0.5-3 μg/kg/min nitroprusside, 5-15 μg/kg/min dobutamin and/or dopamin to keep systolic blood pressure above 80 mmHg. RESULTS: Thirteen patients ...
Source: The Turkish Journal of Pediatrics - Category: Pediatrics Authors: Tags: Turk J Pediatr Source Type: research
CONCLUSIONS: This novel extracorporeal VAD system with a hydrodynamically levitated centrifugal pump can safely and successfully bridge patients with advanced heart failure to subsequent therapeutic stages. PMID: 32461539 [PubMed - as supplied by publisher]
Source: Circulation Journal - Category: Cardiology Authors: Tags: Circ J Source Type: research
Aims The diagnostic performance of the new Peguero–Lo Presti ECG criteria for left ventricular hypertrophy (LVH) has not been validated by cardiac magnetic resonance (CMR). The aim of this study was to evaluate and compare the diagnostic performance of Peguero–Lo Presti, Cornell and Sokolow--Lyon voltage criteria for LVH as defined by CMR in an all-comers European population. Methods A total of 240 consecutive patients referred for CMR who had a concomitant electrocardiogram for review were evaluated. LVH group patients were defined according to the reference values for sex and age of left ventricular mass...
Source: Journal of Cardiovascular Medicine - Category: Cardiology Tags: Research articles: Myocardial hypertrophy Source Type: research
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