Results 81 to 90 of about 403,749 (266)

Pulmonary arterial hypertension with left to right shunts: When to treat and/or close?

International Journal of Cardiology Congenital Heart Disease
Pulmonary arterial hypertension (PAH) is defined as increase in mean pulmonary arterial pressure and pulmonary vascular resistance (PVR). It can be associated with congenital heart disease (CHD) with the following subtypes: 1) uncorrected left-to-right ...
Michele D'Alto, Emanuele Romeo, Paola Argiento, Andrea Vergara, Eleonora Caiazza, Antonio Orlando, Rosa Franzese, Giancarlo Scognamiglio, Berardo Sarubbi, Konstantinos Dimopoulos   +9 more
doaj   +1 more source

Simultaneous transcatheter intervention for atrial septal defect complicated with patent ductus arteriosus: A 13-year single institutional retrospective study

Journal of Interventional Medicine, 2018
: Purpose: The feasibility and validity of simultaneous transcatheter interventions for patients with atrial septal defect (ASD) complicated with patent ductus arteriosus (PDA) has not been systematically evaluated.Materials and Methods: A retrospective ...
Qiguang Wang, Xianyang Zhu, Zhongchao Wang, Chunsheng Cui, Duanzhen Zhang, Chuanju Hou, Po Zhang, Huoyuan Chen, Lili Meng   +8 more
doaj   +1 more source

Peri-operative Anesthetic Innovations During Pediatric Cardiac Surgery [PDF]

, 2011
Congenital heart disease (CHD) refers to a series of birth defects that aff ect the heart and thoracic vessels, aff ecting 6 to 8 out of 1,000 babies being born.
Scohy, T.V. (Thierry)
core   +1 more source

The development of a new measure of quality of life for children with congenital cardiac disease [PDF]

, 2006
The purpose of the study was to develop a questionnaire measuring health-related R1 quality of life for children and adolescents with congenital heart disease, the ConQol, that would have both clinical and research applications.
Birks, Y, Doorn, C, Hardman, G, Kind, P, Lewin, R, Macran, S, Parsons, J, Sloper, P, Thompson, D   +8 more
core   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Delivery of care for adult patients with congenital heart disease in Europe: results from the Euro Heart Survey [PDF]

, 2017
Aims The increasing number of adults with congenital heart disease (CHD) has prompted the development of recommendations for the management of these patients and for the organization of their healthcare. The aim of this report is to describe the delivery
Engelfriet, Peter, Kaemmerer, Harald, Meijboom, Folkert J., Moons, Philip, Mulder, Barbara J.M., Oechslin, Erwin   +5 more
core  

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

American Journal of Medical Genetics Part A, EarlyView.
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

Successful heart transplantation in a patient with Ivemark syndrome combined with situs inversus, single atrium and ventricle after total cavo-pulmonary connection [PDF]

, 2017
Heart transplantation represents a valuable therapeutical option for patients with congenital heart disease and end-stage heart failure. We report the case of a young adult patient with a situs inversus and additional complex congenital malformations of ...
Althaus, Ulrich, Berdat, Pascal A., Carrel, Thierry, Mohacsi, Paul   +3 more
core  

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source