Results 71 to 80 of about 173,111 (298)

Cor triatriatum sinister with situs inversus totalis in an infant. [PDF]

, 2012
Cor triatriatum sinister is a rare congenital cardiac malformation characterized by a membrane in the left atrium which separates the left atrium into the proximal and distal chambers.Association of cor triatriatum is extremely rare with situs inversus
Gadekar, A., Meshram, Sushant, Pathak, Swanand, Taksande, Amar M.   +3 more
core   +1 more source

Early postoperative interventional ASD-closure for severe atrial right to left shunt in a neonate with common arterial trunk [PDF]

, 2013
Although closure of an atrial septal defect (ASD II) with an occluding device in the first year of life is not a routine procedure, it is a feasible treatment, even in neonates.
Dilber, Daniel, Eicken, Andreas, Hess, John   +2 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

Healthcare professional’s guide to cardiopulmonary exercise testing [PDF]

, 2015
Cardiopulmonary exercise testing (CPEX) is a valuable clinical tool that has proven indications within the fields of cardiovascular, respiratory and pre-operative medical care.
Frenneaux, Michael P., Gollop, Nicholas D., Loudon, Brodie L., Parasuraman, Sathish, Schwarz, Konstantin   +4 more
core   +1 more source

How rare is isolated rheumatic tricuspid valve disease? [PDF]

, 2020
The incidence of rheumatic fever (RF) has markedly decreased in Europe since the beginning of the 20th century due to improved living conditions, early antibiotic therapy in streptococcal pharyngitis, and changes in serotypes of circulating streptococci.
Florescu, Cristina, Istrătoaie, Octavian, Mandia, Roxana, Mustafa, Edme R., Târtea, Georgică C.   +4 more
core   +2 more sources

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

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Ultrasonic characterization of the pulmonary venous wall: echographic and histological correlation [PDF]

, 2002
Background: Pulmonary vein isolation with radiofrequency catheter ablation techniques is used to prevent recurrences of human atrial fibrillation. Visualization of the architecture at the venoatrial junction could be crucial for these ablative techniques.
Anderson, R.H., Cabestrero, F., Cabrera, J.A., Farré, J., Ho, S.Y., Navarro, F., Rubio, J.M., Sánchez-Quintana, D.   +7 more
core   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Persistence Pulmonal Hypertension After Balloon Mitral Valvuiloplasty

Majalah Kardiologi Indonesia, 2013
Background.Pulmonary hypertension frequently complicates mitral stenosis. Increased pulmonary artery pressure results from raised left atrial pressure, pulmonary arteriolar vasoconstriction, and obliterative changes in the pulmonary vascular bed, and ...
doaj   +1 more source