A 4-year-old girl child was diagnosed with double outlet right ventricle (DORV), severe pulmonary stenosis, and supramitral ring. This case is presented to bring to light this rare association. Through this report, we aim to stress importance of assessing mitral apparatus on echocardiography during evaluation for situations like DORV and Tetralogy of Fallot (TOF). The physiological differences in such situations as opposed to their isolated counterparts and special postoperative outcomes are also discussed.
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http://dx.doi.org/10.1007/s12055-019-00896-x | DOI Listing |
World J Pediatr Congenit Heart Surg
January 2025
Cardiothoracic Surgery, Rady Children's Hospital San Diego, San Diego, CA, USA.
Background: Double outlet right ventricle (DORV) is a challenging congenital cardiac lesion to surgically master. We utilize computed tomography-guided-three-dimensional (3D) modeling/printing and novel in-house software to delineate anatomical relationships providing operative insight into the surgical approach. Our intent is to highlight this and showcase our technology.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder. Although individuals with variants in the SMC1A gene are less commonly seen in CdLS, they exhibit a high incidence of epilepsy and atypical phenotypic variability.
Methods: The clinical data of a patient with non-classic CdLS and epilepsy caused by an SMC1A variant were summarized.
Ann Pediatr Cardiol
December 2024
Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Introduction: 22q11.2 deletion is associated with conotruncal anomalies and immunological aberrations. Given the common embryonic origin of conotruncus and thymus, conotruncal anomalies may be associated with immunological aberrations irrespective of 22q11.
View Article and Find Full Text PDFClin Case Rep
January 2025
Department of Radiology and Radiotherapy, School of Medicine, College of Health Sciences Makerere University Kampala Uganda.
Double outlet right ventricle (DORV) is a rare congenital heart defect where both the aorta and pulmonary artery originate from the right ventricle, often accompanied by additional cardiac anomalies to mitigate circulatory imbalance, though such compensations usually fail. We report a 15-month-old infant with recurrent respiratory infections and poor weight gain, referred for computed tomography angiography. Physical examination showed a small, non-syndromic infant with pallor, tachypnea, irritability, and finger clubbing.
View Article and Find Full Text PDFJ Clin Med
December 2024
Gastroenterology and Gastrointestinal Endoscopy Division, IRCCS San Raffaele Hospital, Via Olgettina 60, 20132 Milan, Italy.
Endoscopic ultrasound (EUS)-guided interventions have revolutionized the management of malignant biliary obstruction (MBO) and gastric outlet obstruction (GOO), providing minimally invasive alternatives with improved outcomes. These procedures have significantly reduced the need for high-risk surgical interventions or percutaneous alternatives and have provided effective palliative care for patients with advanced gastrointestinal and bilio-pancreatic malignancies. EUS-guided biliary drainage (EUS-BD) techniques, including hepaticogastrostomy (EUS-HGS), choledochoduodenostomy (EUS-CDS), and antegrade stenting (EUS-AS), offer high technical and clinical success rates, with a good safety profile particularly when Endoscopic Retrograde Cholangiopancreatography (ERCP) is not feasible.
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