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Jacobsen syndrome associated with Shone's complex: a case report.
Rev Paul Pediatr
January 2025
Universidade Estadual do Oeste do Paraná, Cascavel, PR, Brazil.
Objective: The aim of this study was to report the case of a child with Jacobsen syndrome in order to provide phenotypic information about this rare genetic disorder.
Case Description: A 5-year-old female preschooler was diagnosed with Jacobsen syndrome by karyotype testing. She presented with a variety of craniofacial anomalies and malformations, including cardiac impairment, characterized by a cluster of malformations in the left ventricle in line with the diagnosis of Shone's complex.
Circular Shunt: A Loop Not to Be Ignored.
J Cardiothorac Vasc Anesth
December 2024
Department of Cardiothoracic Surgery, National Heart Center, Royal Hospital, Muscat, Oman.
A circular shunt, initially described by Shone et al. in 1962, refers to abnormal blood recirculation through complete intracardiac or intra- and extracardiac communications, bypassing the capillary beds. This pathophysiological condition is most commonly associated with complex congenital heart defects, such as Ebstein's malformation, pulmonary atresia, Gerbode defect, and so on.
View Article and Find Full Text PDFA clinical perspective on surgical and diagnostic strategies for neonatal partial shone complex: Insights from a case report.
Int J Surg Case Rep
January 2025
The Internist Cardiologist, Department of Cardiology, Al Watani Hospital, Hama, Syria.
Article Synopsis
- Shone complex (SC) is a rare congenital heart disease involving four obstructive lesions in the left side of the heart, making up 0.6-0.7% of CHD cases.
- A 4-week-old male neonate with SC presented severe respiratory distress and related symptoms, leading to a diagnosis that included multiple heart issues and a successful surgical intervention at five months.
- Early detection through echocardiography and multidisciplinary care is crucial for effective management and improved patient outcomes in SC cases.
Mitral Valve Intervention, Pulmonary Hypertension, and Survival in 219 Shone's Syndrome Patients.
Ann Thorac Surg
October 2023
Department of Thoracic and Cardiothoracic Surgery, Cleveland Clinic, Cleveland, OH; Division of Pediatric Cardiac Surgery and the Heart, Vascular, and Thoracic Institute, Cleveland Clinic, Cleveland, OH. Electronic address:
Background: Relationships between pulmonary hypertension (PHTN), mitral valve intervention (MVI), and death among patients with Shone's syndrome (SS) are unclear. Our recent data suggested temporal progression of MV disease and early survival benefit with MVI at initial operation. In this expanded cohort, we characterized trajectory and impact of PHTN on survival, and its relationship to MVI(s).
View Article and Find Full Text PDFDouble-orifice mitral valve associated with mild mitral stenosis and coarctation of the aortic isthmus: A rare case of incomplete form of Shone's syndrome.
Echocardiography
September 2024
Department of Ultrasound, Renmin Hospital, Hubei University of Medicine, Shiyan, China.
Article Synopsis
- Shone's syndrome (SS) is a rare congenital heart defect with a range of developmental issues.
- It mainly features left ventricular inflow and outflow tract lesions, including parachute mitral valve and supravalvular mitral ring.
- Cases involving a double-orifice mitral valve in Shone's syndrome are not commonly reported.
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