Results 91 to 100 of about 224,975 (295)

TBX3‐ Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

A narrative review of inherited arrhythmogenic syndromes in young population: role of genetic diagnosis in exercise recommendations

BMJ Open Sport & Exercise Medicine
Sudden cardiac death is a rare but socially devastating event, especially if occurs in young people. Usually, this unexpected lethal event occurs during or just after exercise. One of the leading causes of sudden cardiac death is inherited arrhythmogenic
Elena Arbelo, Gonzalo Grazioli, Carles Díez-López, Oscar Campuzano, Georgia Sarquella-Brugada, Sergi Cesar, Estefanía Martínez-Barrios, Rocío Toro, José Cruzalegui, Andrea Greco, Nuria Díez-Escuté, Patricia Cerralbo, Fredy Chipa, Norma Balderrábano   +13 more
doaj   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

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, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

The Role of Immune Cells Driving Electropathology and Atrial Fibrillation

Cells
Atrial fibrillation (AF) is the most common progressive cardiac arrhythmia worldwide and entails serious complications including stroke and heart failure. Despite decades of clinical research, the current treatment of AF is suboptimal.
Mingxin Huang, Fabries G. Huiskes, Natasja M. S. de Groot, Bianca J. J. M. Brundel   +3 more
doaj   +1 more source

Continuous electrocardiogram monitoring in porcine model of myocardial ischemia reperfusion

Animal Models and Experimental Medicine, EarlyView.
Wearable technology for continuous electrocardiogram monitoring can be utilized in porcine models of disease. Abstract As cardiovascular disease is the leading cause of global mortality, innovative animal models are vital to demonstrating the translational value of experimental discoveries. Investigations focused on myocardial remodeling after ischemia
Nathaniel Hyams, Roxanne Swagel, Sharon Thomas, Rupak Mukherjee, Alicia Braxton Hickman, Daniel Eldridge, Kristine Helke, Ying Mei, Jean Marie Ruddy   +8 more
wiley   +1 more source

The Interplay Between Pulmonary Hypertension and Atrial Fibrillation: A Comprehensive Overview

Cells
Pulmonary hypertension (PH) is a progressive lung disease characterized by abnormal pulmonary vascular pressure and right ventricular (RV) dysfunction. Atrial arrhythmias, including atrial fibrillation (AF) and atrial flutter, are common in patients with
Danish Sultan, Bianca J. J. M. Brundel, Kondababu Kurakula   +2 more
doaj   +1 more source

Cardiac Magnetic Resonance and Ventricular Arrhythmia Risk Assessment in Chronic Ischemic Cardiomyopathy: An Unmet Need? [PDF]

, 2022
Beatriz Jáuregui, Naiara Calvo, Teresa Olóriz, Carlos López-Perales, Antonio Asso   +4 more
openalex   +1 more source

Noradrenergic and cholinergic innervation of the normal human heart and changes associated with cardiomyopathy

The Anatomical Record, EarlyView.
Abstract Autonomic nerves are crucial in cardiac function and pathology. However, data on the distribution of cholinergic and noradrenergic nerves in normal and pathologic human hearts is lacking. Nonfailing donor hearts were pressure‐perfusion fixed, imaged, and dissected. Left ventricular cardiomyopathy samples were also obtained.
Peter Hanna, Donald B. Hoover, Logan G. Kirkland, Elizabeth H. Smith, Megan D. Poston, Stanley G. Peirce, Chloe G. Garbe, Tasha K. Phillips, Steven Cha, Shumpei Mori, Jaclyn A. Brennan, John Andrew Armour, Eric Rytkin, Igor R. Efimov, Olujimi A. Ajijola, Jeffrey L. Ardell, Kalyanam Shivkumar   +16 more
wiley   +1 more source

Generation of induced pluripotent stem cell lines from five individuals from two families carrying a pathogenic Dutch MYBPC3 founder variant with variable degrees of hypertrophic cardiomyopathy

Stem Cell Research
Hypertrophic cardiomyopathy (HCM) is often caused by pathogenic or likely pathogenic variants, of which 30–50 % involve a variant in the gene encoding cardiac myosin-binding protein-C (MYBPC3).
Floor W. van den Dolder, Vincent A.J. Warnaar, Yeszamin L. Onderwater, Annette F. Baas, Diederik W.D. Kuster, Jolanda van der Velden   +5 more
doaj   +1 more source