Results 111 to 120 of about 486,552 (358)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen +10 more
wiley +1 more source
Cardiovascular features of possible autonomous cortisol secretion in patients with adrenal incidentalomas [PDF]
, 2018 Background: Low-grade incomplete post-dexamethasone cortisol suppression in patients with adrenal incidentalomas – recently defined as possible autonomous cortisol secretion (pACS) – has been associated with increased cardiovascular events and mortality.
Di Giorgio, Maria Rosaria +12 more
core +2 more sources
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil +8 more
wiley +1 more source
Journal of Cardiothoracic Surgery, 2019 Background Radiofrequency catheter ablation is approved effective therapy for premature ventricular contraction. However, the rare but serious complication such as pseudoaneurysm should be given more attention. It is life-threatening due to the high risk
Hongxia Wang +4 more
doaj +1 more source
Embolic strokes of undetermined source: prevalence and patient features in the ESUS Global Registry [PDF]
, 2016 Background: Recent evidence supports that most non-lacunar cryptogenic strokes are embolic. Accordingly, these strokes have been designated as embolic strokes of undetermined source (ESUS).
Ameriso, Sebastian F +27 more
core +2 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote +9 more
wiley +1 more source
Ischaemia as a cause of LVOT gradient reversal in HCM
Echo Research and Practice, 2017 We present the case of a previously fit 84-year-old female with long-standing systemic hypertension and the echo phenotype of hypertrophic cardiomyopathy (HCM) – asymmetrical septal hypertrophy, significant resting left ventricular (LV) outflow ...
Camelia Demetrescu +2 more
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava +5 more
wiley +1 more source
Detection and exclusion of interatrial shunts by two-dimensional echocardiography and peripheral venous injection. [PDF]
, 1979 Theodore D. Fraker +3 more
openalex +1 more source
Development of an efficient mice model of cancer‐associated cardiac cachexia
Animal Models and Experimental Medicine, EarlyView.This work establishes a preclinical framework for targeting ubiquitin pathways to mitigate the morbidity of cancer‐related cardiopathy. Our integrated approach delineates a hierarchical progression from subcellular dysfunction to macroscopic cardiac deterioration. These findings mechanistically link tumor‐induced cachexia to cardiac dysfunction through
Shijie Xiong +9 more
wiley +1 more source