Results 71 to 80 of about 73,611 (316)

Atrial septal defect.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1998
Click on the link to view.
Zion, MM, Bradlow, BA, Braudo, JL
openaire   +2 more sources

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

The inferior caval vein draining into the left atrial cavity : a rare case [PDF]

, 2011
The inferior vena cava (IVC) draining into the left atrium (LA) is exceedingly rare in the setting of the usual atrial arrangement (situs solitus).
McCarthy, Karen, Shiina, Y., Slavik, S., Uemura, H., Yen Ho, S.   +4 more
core  

Glucocorticoids for treating paediatric pulmonary hypertension: A novel use for a common medication [PDF]

, 2017
Laboratory investigations have shown the role of inflammation in the pathogenesis of pulmonary hypertension and improvement after anti-inflammatory drugs.
Aggarwal, Manish, Grady, Ronald M
core   +2 more sources

Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature

Annals of Pediatric Cardiology, 2014
We report a case of type-A Coffin-Siris syndrome (CSS) with a unique constellation of congenital heart defects. A 17-year-old Indian boy was referred to our hospital for central cyanosis with features of right heart failure.
Lalita Nemani, Ramachandra Barik, Amar Narayana Patnaik, Ramesh C Mishra, Amaresh M Rao, Pragati Kapur   +5 more
doaj   +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

Impact of \u3cem\u3eMYH6\u3c/em\u3e Variants in Hypoplastic Left Heart Syndrome [PDF]

, 2016
Hypoplastic left heart syndrome (HLHS) is a clinically and anatomically severe form of congenital heart disease (CHD). Although prior studies suggest that HLHS has a complex genetic inheritance, its etiology remains largely unknown.
Benson, D. Woodrow, Goetsch, Mary A., Hidestrand, Mats, Hidestrand, Pip M., Kim, Min-Su, Liang, Huan-Ling, Lough, John, Mahnke, Donna K., Mitchell, Michael, Pelech, Andrew N., Simpson, Pippa, Stamm, Karl D., Tomita-Mitchell, Aoy, Tweddell, James S.   +13 more
core   +2 more sources

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

THE Epidemology of down’s syndrome among congential heart disease children in Faisalabad

European Journal of Volunteering and Community-Based Projects, 2021
Patients with Down’s syndrome are prone to have congenital heart defects. This study was conducted to evaluate the frequency of various congenital heart defects in children with Down’s syndrome.
Abdul Maajid Khokhar, Dr.Mohsin Muhammad Mohsin Ali, Sarwat Mahmood Mahmood, Muhammad Mazhar Fareed   +3 more
doaj   +2 more sources

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, EarlyView.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source