Results 41 to 50 of about 63,827 (265)
Device Closure of Elliptical Atrial Septal Defects: Technical Considerations
Indian Journal of Clinical CardiologyBackground Percutaneous closure of elliptical atrial septal defects remains challenging due to the circular configuration of conventional atrial septal defect occluders, making optimal device sizing difficult.
Gousia Mukhtar +4 more
doaj +1 more source
A comparison of clinical paediatric murmur assessment with echocardiography [PDF]
, 2004 Objective: To compare the clinical acumen of paediatric cardiovascular examination between various hospital paediatrician grades. Design: Prospective data collection of clinical and echocardiography findings on paediatric echocardiography referrals ...
Bailey, Mark +4 more
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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 +16 more
wiley +1 more source
Balloon assisted technique for closure of large atrial septal defects [PDF]
, 2008 Amplatzer device closure of large atrial septal defects is challenging. A large device tends to malalign with the plane of the interatrial septum or prolapses through the defect.
Dalvi, Bharat V.
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios +9 more
wiley +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 +3 more
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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 +4 more
wiley +1 more source
Clinical Case Reports, 2023 We report a case of incidental detection of severe aortic coarctation, severe secundum atrial septal defect, and bicuspid aortic valve in an active‐duty military service member.
Tarin Phillips +2 more
doaj +1 more source
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 +25 more
wiley +1 more source
Familial secundum atrial septal defect with dysrhythmia associated with web neck
The Turkish Journal of Pediatrics, 2002 Most cases of atrial septal defect occur sporadically, but a few families have the defect as a genetic abnormality. A family having familial type secundum atrial septal defect with dysrhythmia associated with web neck is reported.
Zübeyir Kiliç +4 more
doaj