Results 51 to 60 of about 89,356 (321)

3D printing is a transformative technology in congenital heart disease [PDF]

, 2018
Survival in congenital heart disease has steadily improved since 1938, when Dr. Robert Gross successfully ligated for the first time a patent ductus arteriosus in a 7-year-old child.
Anwar, Anwar, Barach, Bernhard, Bhatla, Biglino, Biglino, Binder, Boneva, Borrello, Botto, Brown, Bucher, Byrne, Chaowu, Conti, Costello, Dearani, Deferm, Duan, Duan, Erikssen, Fan, Farooqi, Farooqi, Farooqi, Fleming, Fukunishi, Garekar, Gaynor, Gentles, Giamberti, Giannopoulos, Giroud, Gosnell, Grant, Green, Hadeed, Hermsen, Hoffman, Holst, Holst, Hu, Jacobs, Jana, Javan, Jonas, Kappetein, Kapur, Khairy, Kiraly, Kirklin, Kolli, Kotsis, Kung, Lee, Lee, Little, Lloyd-Jones, Mahle, Mahmood, Mannoor, Maragiannis, Markert, Markstedt, Mashari, Meier, Michael, Mitsouras, Moons, Moore, Morrison, Muraru, Ngan, Noecker, Olivieri, Olivieri, O’Brien, O’Neill, Pentecost, Poterucha, Randazzo, Rehder, Riesenkampff, Ripley, Rodriguez-Paz, Ryan, Saeed, Samuel, Santos dos, Schievano, Schmauss, Shah, Smith, Sodian, Sodian, Sutcliffe, Tabriz, Tack, Taylor, Valverde, VanKoevering, Vukicevic, Vukicevic, Vukicevic, Wang, Wang, Warnes, Warnes, Warnes, Whitlock, Wilasrusmee, Williams, Witschey, Yoo, Yoo, Zopf, Zweifel   +117 more
core   +3 more sources

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

Fetal heterotaxy with tricuspid atresia, pulmonary atresia, and isomerism of the right atrial appendages at 22 weeks. [PDF]

, 2013
We report the accurate prenatal diagnosis at 22 weeks gestation of right atrial isomerism in association with tricuspid atresia. Several distinctive sonographic features of isomerism of the right atrial appendages were present in this fetus: complex ...
Richardson, Randy R, Silverman, Norman H, Solomon, Julia E, Stock, John H   +3 more
core   +2 more sources

Ventricular Septal Aneurysm Mimicking Right Ventricular Outflow Tract Mass in a Patient With Ventricular Septal Defect

JACC: Case Reports, 2020
A 50-year-old man presented with an episode of chest pain. Cardiac magnetic resonance revealed the presence of a large ventricular septal aneurysm partially closing a perimembranous ventricular septal defect, prolapsing into the right ventricular outflow
Nikhil A. Mehta, MBBS, Syed Rafay Ali Sabzwari, MBBS, Sara Godil, MD, Ghulam Akbar, MD, Raman Dusaj, MD, Neeraj Shah, MBBS   +5 more
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

Transcatheter closure of Ventricular Septal defects in Malta : initial experience [PDF]

, 2005
Ventricular septal defects (VSD) consist of deficiencies of the wall separating the two ventricles. VSDs are the commonest congenital cardiac defects. Small VSDs rarely require intervention, however, larger defects cause ventricular volume overload with ...
Aquilina, Oscar, DeGiovanni, Joseph V., Fenech, Albert, Formosa Gouder, Mireille, Grech, Victor E., Magic, Jadran, Manche, Alexander   +6 more
core  

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

The incidence and follow-up of isolated ventricular septal defect in newborns by echocardiographic screening

The Turkish Journal of Pediatrics, 2008
The aim of this study was to evaluate the incidence and spontaneous closure rate of ventricular septal defects in a randomly selected newborn population, using color flow Doppler echocardiographic screening.
Filiz Ekici, Ercan Tutar, Semra Atalay, Saadet Arsan, Nazire Ozçelik   +4 more
doaj  

Association of Maternal Dietary Habits and MTHFD1 Gene Polymorphisms With Ventricular Septal Defects in Offspring: A Case-Control Study [PDF]

, 2022
Xinli Song, Yiping Liu, Tingting Wang, Senmao Zhang, Mengting Sun, Jing Shu, Jianhui Wei, Jingyi Diao, Jinqi Li, Yihuan Li, Letao Chen, Ping Zhu, Jiabi Qin   +12 more
openalex   +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