Results 141 to 150 of about 367,841 (307)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios +9 more
wiley +1 more source
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg +9 more
wiley +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.A modified approach was developed to accurately identify the isovolumetric relaxation time (IVRT) using an apical three‐chamber view. Compared with conventional echocardiography, isovolumic relaxation strain imaging (IVSI) helps to detect the earlier alternations of diastolic function in transverse aortic constriction (TAC) mice.
Jingjing Liang +3 more
wiley +1 more source
Correlation between left ventricular hypertrophy and diastolic dysfunction in arterial hypertension
Терапевтический архив, 2003 Aim. To evaluate relationships between arterial pressure (AP), myocardial mass of the left ventricle (LVMM) and left ventricular diastolic function (LVDF) in patients with hypertension stage I and II. Material and methods. 89 hypertensive patients and 30
Z К Trushinsky +2 more
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Animal Models and Experimental Medicine, EarlyView.This study presents an integrative multi‐omics framework to uncover the molecular mechanisms and potential biomarkers of chronic thromboembolic pulmonary hypertension (CTEPH). Anthropometric and biochemical data were correlated using canonical correlation analysis, revealing key cardiometabolic associations. Single‐cell RNA sequencing identified immune
Xiaopeng Liu +4 more
wiley +1 more source
Animal models of chronic thromboembolic pulmonary hypertension
Animal Models and Experimental Medicine, EarlyView.Current animal models of CTEPH. Created using BioRender.com. Abstract Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare, yet life‐threatening disorder characterized by persistent pulmonary vascular obstruction and elevated pulmonary artery pressure, with progressive remodeling and subsequent right heart failure.
Yong‐Jian Zhu +5 more
wiley +1 more source
Journal of Cardiovascular and Thoracic Research, 2012 Introduction: Diabetes mellitus (DM) is associated with serious complications including macro- and microvascular problems such as diabetic retinopathy.
Ebadollah Heidari +4 more
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