Results 101 to 110 of about 41,491 (252)

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source

Positional cyanosis reveals platypnea-orthodeoxia-syndrome

Respiratory Medicine Case Reports, 2019
Platypnea-orthodeoxia syndrome is a rare cause of dyspnea, which presents upon standing and resolves when supine. Etiology is multifactorial with a functional component and an anatomical shunt. The most commonly reported shunt is an atrial septal defect,
Colin M. Kenny, Caroline E. Murphy, Lindsay Clough, Deptmer Ashley   +3 more
doaj   +1 more source

Real-time three-dimensional ultrasound : a valuable new tool in preoperative assessment of complex congenital cardiac disease [PDF]

, 2003
Evaluating complex cardiac defects in small children preoperatively requires multiple diagnostic procedures including echocardiography, and also invasive methods such as cardiac catheterisation, computer-tomography and magnetic resonance imaging.
Dalla Pozza, Robert, Kozlik-Feldmann, Rainer, Netz, Heinrich, Romer, U.   +3 more
core  

Atrial fibrillation, sinoatrial and atrioventricular node dysfunction in a mouse model of heart failure with preserved ejection fraction

Experimental Physiology, EarlyView.
Summary of the timeline of characterized events related to atrial fibrilation (AF) and diastolic dysfunction in a mouse heart failure with preserved ejection fraction (HFpEF) model. Three weeks after the initiation of the diet regimen with high fat diet (HFD) and Nω‐nitro‐l‐arginine methyl ester (l‐NAME) in drinking water to induce HFpEF, significantly
Bernadin Ndongson‐Dongmo, Reinhard Bauer, Finn Olav Levy   +2 more
wiley   +1 more source

Combined perventricular closure of ventricular septal defect and atrial septal defect via lower ministernotomy

Journal of Cardiothoracic Surgery, 2018
Background Minimally invasive approaches such as perventricular closure of ventricular septal defects (VSD) have been applied for the surgical correction of congenital heart defects in order to avoid disadvantages related to median sternotomy with a ...
Yunfei Ling, Yue Wang, Qiang Fan, Yongjun Qian   +3 more
doaj   +1 more source

Recollections of My Research in Developing the Heart-Lung Machine at Jefferson Medical College [PDF]

, 2005
A personal memoir written by Dr. Bernard J. Miller about his introduction to and interest in medical research as well as his experiences working on the heart-lung machine. He focuses specifically on his working relationship with John H.
Miller, Bernard J.
core   +1 more source

Holt-oram syndrome associated with double outlet right ventricle: A rare association

Annals of Pediatric Cardiology, 2013
Holt-Oram syndrome is a rare inherited disorder that causes abnormalities of the hands, arms, and the heart. Most commonly, there are defects in the carpal bones of the wrist and in the bones of the thumb along with cardiac defects such as atrial or ...
Bhupinder Singh, Mallesh Kariyappa, Ishwarappa Balekundri Vijayalakshmi, Manjunath C Nanjappa   +3 more
doaj   +1 more source

HEART SOUNDS AND PRESSURES IN ATRIAL SEPTAL DEFECT [PDF]

Heart, 1965
D W, BARRITT, D H, DAVIES, G, JACOB
openaire   +2 more sources

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 642-652, March 2026.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source