Results 41 to 50 of about 6,723 (177)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Carotid approach to anterior circulation thromboembolectomy in an adult with failing fontan physiology: a case report

BMC Anesthesiology, 2021
Background Anesthetic management of an adult with failing Fontan physiology is complicated given inherent anatomical and physiological alterations. Neurosurgical interventions including thromboembolectomy may be particularly challenging given importance ...
Caroline Eden, Hugo Clifford, Arthur Wang, Asif Mohammed, Peter Yim   +4 more
doaj   +1 more source

Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome

HGG Advances, 2023
Summary: Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) characterized by hypoplasia of the left ventricle and aorta along with stenosis or atresia of the aortic and mitral valves.
Elizabeth E. Blue, Janson J. White, Michael K. Dush, William W. Gordon, Brent H. Wyatt, Peter White, Colby T. Marvin, Emmi Helle, Tiina Ojala, James R. Priest, Mary M. Jenkins, Lynn M. Almli, Jennita Reefhuis, Faith Pangilinan, Lawrence C. Brody, Kim L. McBride, Vidu Garg, Gary M. Shaw, Paul A. Romitti, Wendy N. Nembhard, Marilyn L. Browne, Martha M. Werler, Denise M. Kay, Seema Mital, Jessica X. Chong, Nanette M. Nascone-Yoder, Michael J. Bamshad   +26 more
doaj   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Unguarded left atrioventricular orifice: An unusual cause of hypoplastic left ventricle and double-outlet right ventricle with intact ventricular septum

Annals of Pediatric Cardiology, 2019
An unguarded atrioventricular orifice is an extremely rare congenital anomaly characterized by the absence of the atrioventricular valve in varying proportions.
Anand Subramanian, A P Bharath, M Jayaranganath   +2 more
doaj   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, Volume 46, Issue 7, Page 1122-1129, June 2026.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Computational Modeling Meets 3D Bioprinting: Emerging Synergies in Cardiovascular Disease Modeling

Advanced Healthcare Materials, Volume 15, Issue 17, 8 May 2026.
Emerging advances in three‐dimensional bioprinting and computational modeling are reshaping cardiovascular (CV) research by enabling more realistic, patient‐specific tissue platforms. This review surveys cutting‐edge approaches that merge biomimetic CV constructs with computational simulations to overcome the limitations of traditional models, improve ...
Tanmay Mukherjee, Mehdi Salar Amoli, Sarah Rezapourdamanab, Lama Rita El Shammas, Martin L. Tomov, Emilio A. Mendiola, Vahid Serpooshan, Reza Avazmohammadi   +7 more
wiley   +1 more source

Dominância coronariana na síndrome da hipoplasia do coração esquerdo Coronary dominance patterns in hypoplastic left heart syndrome

Brazilian Journal of Cardiovascular Surgery, 2011
INTRODUÇÃO: Apesar de a síndrome do coração esquerdo hipoplásico (SCEH) ser extensamente estudada, esta doença ainda apresenta mortalidade elevada se comparada a outras doenças tratadas como fisiologia univentricular. Assim, diferenças morfológicas entre
Decio Cavalet Soares Abuchaim, Carla Tanamati, Marcelo Biscegli Jatene, Miguel Lorenzo Barbero Marcial, Vera Demarchi Aiello   +4 more
doaj   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Changes in cardiac morphometry in fetuses with lower urinary tract obstruction

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Objective Fetal lower urinary tract obstruction (LUTO) is associated with significant perinatal morbidity due to oligohydramnios, pulmonary hypoplasia, and progressive renal dysfunction. In addition to these well‐known sequelae, LUTO has been linked to various cardiac abnormalities on prenatal imaging, including cardiomegaly; ventricular ...
Sarah Araji, Betul Yilmaz Furtun, Sara Al‐Haddad, Roopali Donepudi, Magdalena Sanz Cortes, Jessian Munoz, Cara Buskmiller, Brian Burnett, Michael A. Belfort, Michael Jochum, Ahmed A. Nassr   +10 more
wiley   +1 more source