Results 61 to 70 of about 74,924 (301)

Pulmonary atresia with intact ventricular septum and congenital left ventricular aneurysm

, 2018
Pulmonary atresia with intact ventricular septum and congenital left ventricular aneurysms are both rare, representing <1 and <0.1% of CHD, respectively.
Rhiannon Hickok, Tom Karl, Gary Stapleton, Benton Ng   +3 more
core   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Ventricular interdependence in critically ill patients: from physiology to bedside

Frontiers in Physiology, 2023
The review focuses on the mechanism of ventricular interdependence, a frequently encountered phenomena, especially in critically ill patients. It is explained by the anatomy of the heart, with two ventricles sharing a common wall, the septum, and nested ...
Matthieu Petit, Matthieu Petit, Antoine Vieillard-Baron, Antoine Vieillard-Baron   +3 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Successful Correction of Postinfarction Interventricular Septum Rupture Diagnosed Online During the COVID-19 Pandemic (Clinical Case)

Brazilian Journal of Cardiovascular Surgery, 2022
Postinfarction interventricular septum defect is a rare, but very serious and sometimes fatal, complication of acute myocardial infarction. This article describes a clinical case of online diagnosis of a late-stage myocardial infarction and the ...
Nazgul Asylbekovna Seitmaganbetova, Khibina Mirshat, Veklenko Viktorovna Galina, Tleumagambetova Bibolatovna Bibigul, Aliyev Mynbayevich Ondasyn, Rakhmatullina Nikolayevna Tolkynai, Biyasilov Nurzhan, Zhaubatyrova Aigul, Kurmasheva Gulnara   +8 more
doaj   +1 more source

Acquired ventricular septal aneurysm in a patient with pulmonary atresia with intact ventricular septum

, 2011
Myocardial ischaemia and infarction in pulmonary atresia and intact ventricular septum with right ventricular-dependent coronary circulation is a well-established complication.
Matthew Harris, Paul Farrell, Akash R. Patel, Matthew J. Gillespie, J. William Gaynor   +4 more
core   +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

Empirical Ablation to Prevent Sequential Purkinje System Recruitment

JACC: Case Reports, 2021
We report 3 cases (mean age 48.3 ± 11.6 years) of idiopathic ventricular fibrillation (IVF), in which a triggering premature ventricular complex leading to IVF could not be identified.
Pattara Rattanawong, MD, Vatsal Ladia, MBBS, MD, MHA, Nareg Minaskeian, MD, Dan Sorajja, MD, Win-Kuang Shen, MD, Komandoor S. Srivathsan, MD   +5 more
doaj   +1 more source

Left ventricular performance of pulmonary atresia with intact ventricular septum after right heart bypass surgery

, 2004
ObjectiveThe left ventricular performance in patients with pulmonary atresia with intact ventricular septum who were Fontan candidates before and after the bidirectional Glenn procedure and a staged total cavopulmonary connection was compared with that ...
Maeda, Taketoshi, Fusazaki, Naoki, Ishikawa, Shiro, Tanoue, Yoshihisa, Shiokawa, Yuichi, Kado, Hideaki   +5 more
core   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source