Results 31 to 40 of about 165,950,521 (230)

Congenital absence of sternum with tetralogy of Fallot, right aortic arch, and bilateral superior vena cava

Egyptian Pediatric Association Gazette, 2023
Background Congenital complete absence of sternal bone or cleft sternum or absent sternum is a very rare and potentially life-threatening birth defect.
Santosh Chavan, Nilima Narkhede, Rajaram Weling   +2 more
doaj   +1 more source

Tetralogy of Fallot Associated with Right Arch and Persistent Left Dorsal Aortic Aneurysm

, 2012
We described a patient who was diagnosed of Tetralogy of Fallot with right arch. Dorsal aortic aneurysm was found later confirmed by cardiac catheterization and reconstruction of 3D computer tomography.
Chang, Hok-Keong; Wang, Jieh-Neng; Hung, Wen-Pin; Chen, Shyn-Jye; Wu, Jing-Ming, 王玠能;陳世杰;吳俊明   +1 more
core   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Dysphagia in an adult tetralogy of fallot with double aortic arch [PDF]

, 2013
Double aortic arch (DAA) is a common vascular ring. It may occur in isolation or coexist with various types of congenital heart disease . The anomaly usually presents in early infancy.
Bhan, Anil, Munesh, Tomar, Pankaj, Bhatiya   +2 more
core  

Outcome of humanitarian patients with late complete repair of tetralogy of Fallot: A 13-year long single-center experience

International Journal of Cardiology Congenital Heart Disease, 2022
Background: Surgical repair of tetralogy of Fallot is usually performed between 3 and 6 months of age with pulmonary valve-sparing repair promoted for the best long-term result.
Damien Schaffner, Guillaume Maitre, Sebastiano A.G. Lava, Yann Boegli, Mirko Dolci, Raymond Pfister, Nicole Sekarski, Perez Marie-Hélène, Stefano Di Bernardo   +8 more
doaj   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Management of Tetralogy of Fallot with Pulmonary Atresia [PDF]

, 2005
Tetralogy of Fallot with Pulmonary Atresia is an extreme form of tetralogy characterized by absence of flow from the right ventricle to the pulmonary arteries.
Prieto, Lourdes R.
core  

Correção total da tétrade de Fallot no primeiro ano de vida

Brazilian Journal of Cardiovascular Surgery, 1998
De janeiro de 1996 a novembro de 1997, 15 crianças com idade variando de 3 a 11 meses (média: 6 meses) e pesando entre 5 kg a 9 kg (média: 7,2 kg) foram eletivamente submetidas à correção total de tétrade de Fallot.
Fernando MORAES NETO, Cleuza LAPA, Carlos R. MORAES, Sheila HAZIN, Cláudio A. GOMES, Euclides TENÓRIO, Sandra MATTOS   +6 more
doaj   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Tetralogy of Fallot with absent pulmonary valve syndrome : an imaging challenge [PDF]

, 2015
Congenital absence of pulmonary valve syndrome (APV) represents a fascinating and unique variant of congenital heart disease. It was Chever in 1847 who first described this unique structural heart defect.
Gogou, Maria, Keivanidou, Anastasia, Giannopoulos, Andreas   +2 more
core