Results 41 to 50 of about 41,491 (252)

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

Incidence and Types of Congenital Heart Diseases among Children in Sulaimani Governorate

Kurdistan Journal of Applied Research, 2017
Congenital heart diseases (CHD) are common causes of cardiovascular morbidity and mortality among young children and adolescents. It is the most common form of structural congenital defects.
Niaz Kamal, Nasih Othman, Aso Salih
doaj   +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

Totally thoracoscopic closure for atrial septal defect on perfused beating hearts [PDF]

European Journal of Cardio-Thoracic Surgery, 2011
To investigate the feasibility and safety of non-robotically assisted totally thoracoscopic closure for atrial septal defect (ASD) on perfused beating hearts.Twenty-four patients (8-45 years, mean 14.4 ± 18.7) underwent ASD closure on beating hearts by a totally thoracoscopic approach without the aid of a robotic surgical system. Additional 72 patients
Zeng-Shan, Ma, Ming-Feng, Dong, Qiu-Yang, Yin, Zhi-Yu, Feng, Le-Xin, Wang   +4 more
openaire   +2 more sources

Heart failure caused by iatrogenic atrial septal defect after cryoballoon ablation for atrial fibrillation

Journal of Cardiology Cases, 2021
An 83-year-old man with no structural heart disease underwent pulmonary vein isolation (PVI) for symptomatic paroxysmal atrial fibrillation (AF). The PVI was successfully performed by cryoballoon ablation with a single transseptal puncture. A 12Fr deflectable sheath and an 8.5Fr long sheath crossed the interatrial septum via the same puncture site ...
Yasunobu Yamagishi, Yasushi Oginosawa, Kan Kikuchi, Jun Muneuchi, Keishiro Yagyu, Taro Miyamoto, Keita Tsukahara, Hisaharu Ohe, Ritsuko Kohno, Haruhiko Abe   +9 more
openaire   +3 more sources

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report

Journal of Medical Case Reports, 2018
Background Atrial septal defect often become more severe when encountered in genetic syndromes. Congenital disorder of glycosylation type 1a is an inherited metabolic disorder associated with mutations in PMM2 gene and can affect almost all organs ...
Ruo-hao Wu, Dong-fang Li, Wen-ting Tang, Kun-yin Qiu, Yu Li, Xiong-yu Liao, Dan-xia Tang, Li-jun Qin, Bing-qing Deng, Xiang-yang Luo   +9 more
doaj   +1 more source

Ethnical variations in the incidence of congenital heart defects in Gorgan, Northern Iran: A single-center study [PDF]

, 2014
Background: Congenital heart disease (CHD) is the most common congenital anomaly in newborns. This study was performed to determine the live birth incidence of CHD by ethnicity and sex in Gorgan, Northern Iran.
Golalipour, M.J., Nikyar, A., Nikyar, B., Qorbani, M., Sedehi, M.   +4 more
core  

Left main bronchus compression due to main pulmonary artery dilatation in pulmonary hypertension: two case reports [PDF]

, 2015
. Pulmonary arterial dilatation associated with pulmonary hypertension may result in significant compression of local structures. Left main coronary artery and left recurrent laryngeal nerve compression have been described.
Ariff, B, Davies, R, Gibbs, JS, Gin-Sing, W, Howard, L, Jaijee, SK, O'Regan, DP   +6 more
core   +1 more source