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shones complex syndrome

Wojciech Mądry, Maciej A Karolczak, Krzysztof Grabowski
The authors present a case of echocardiographic diagnosis of supravalvar mitral ring (a fibromembranous structure that arose from the atrial surface of the mitral leaflets) in a child with a parachute mitral valve, a ventricular septal defect, and mild narrowing of the aortic isthmus. The supravalvar mitral stenosis is a typical but very infrequently detected element of the complex of anatomical abnormalities located within the left heart and the proximal aorta, called the Shone's complex (syndrome). Diagnosing an additional, hemodynamically significant anatomic defect during echocardiography was possible thanks to the detection of marked mobility limitation of the ring-adjacent part of the mitral valve mural leaflet as well as of an atypical image of turbulence occurring during the inflow from the left atrium to the left ventricle...
September 2017: Journal of Ultrasonography
Maria Cristina Digilio, Maria Gnazzo, Francesca Lepri, Maria Lisa Dentici, Elisa Pisaneschi, Anwar Baban, Chiara Passarelli, Rossella Capolino, Adriano Angioni, Antonio Novelli, Bruno Marino, Bruno Dallapiccola
The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to 80%. Between January 2012 and December 2015, 28 patients had a molecularly proven diagnosis of Kabuki syndrome. Pathogenic variants in KMT2D (MLL2) were detected in 27 patients, and in KDM6A gene in one. CHD was diagnosed in 19/27 (70%) patients with KMT2D (MLL2) variant, while the single patient with KDM6A change had a normal heart. The anatomic types among patients with CHD included aortic coarctation (4/19 = 21%) alone or associated with an additional CHD, bicuspid aortic valve (4/19 = 21%) alone or associated with an additional CHD, perimembranous subaortic ventricular septal defect (3/19 = 16%), atrial septal defect ostium secundum type (3/19 = 16%), conotruncal heart defects (3/19 = 16%)...
September 8, 2017: American Journal of Medical Genetics. Part A
George T Nicholson, Michael S Kelleman, Caridad M De la Uz, Ricardo H Pignatelli, Nancy A Ayres, Christopher J Petit
OBJECTIVE: Shone's syndrome is a complex consisting of mitral valve stenosis in addition to left ventricle outflow obstruction. There are a few studies evaluating the long-term outcomes in this population. We sought to determine the long-term outcomes in our paediatric population with Shone's syndrome and the factors associated with left heart growth. METHODS: All patients diagnosed with Shone's syndrome with biventricular circulation treated between 1978 and 2010 were reviewed...
May 2017: Cardiology in the Young
Laurie A Malia, Leslie I Wolkoff, Laila Mnayer, Joseph W Tucker, Nehal S Parikh
A preterm infant presenting with a congenital cardiac malformation and thrombocytopenia was found to have a karyotype showing a terminal deletion of the long arm of chromosome 11 of the segment 11q24.1-11qter consistent with Jacobsen syndrome. The infant was later diagnosed with Paris-Trousseau syndrome, commonly associated with Jacobsen syndrome. Because children with cardiac malformations often require high-risk surgical procedures in the early neonatal period, those with platelet dysfunction require prompt identification at birth...
October 2015: Journal of Pediatric Hematology/oncology
Ivan Malčić, Hrvoje Kniewald, Ana Jelić, Dalibor Sarić, Dorotea Bartoniček, Daniel Dilber, Držzen Belina, Darko Anić
Our study is a clinical epidemiological retrospective analysis of coarctation of the aorta in a 10-year follow-up (2001-2011). The study includes 201 children, 72 (35.82%) girls and 129 (64.18%) boys (1:1,6), with an average age of 28.57-49.37 mo (0.1-204 mo). They are categorized in 4 age groups: <1 month, 1 month - 1 year, 1 year - 6 years, >6 years. Isolated coarctation of the aorta was found in 125 (62.19%) patients; 33 (16.42%) preductal and 92 (45.77%) postductal. Coarctation of the aorta with an additional heart defect was found in 76 (37...
January 2015: Lijec̆nic̆ki Vjesnik
Dustin J Carpenter, Andrew C Fiore, Charles B Huddleston
Left ventricle to aortic conduits were used for the treatment of complex left ventricular outflow tract obstruction in the pediatric population in the mid-1970s. Although this technique has been largely replaced by the Ross-Konno procedure, many patients still have functioning apicoaortic conduits in place today. Few clinical reports or case series exist in pediatric cohorts documenting the natural history or potential long-term complications of this prosthesis. In this report, we describe our experience managing a patient with Shone's syndrome and an apical aortic porcine-valved conduit remnant that became infected 17 years postconduit valve excision for valvular insufficiency...
July 2014: World Journal for Pediatric & Congenital Heart Surgery
István Hartyánszky, András Kollár, Krisztina Kádár, László Ablonczy, Edit Novák, Attila Tóth
INTRODUCTION: The surgical strategy to manage multilevel left ventricular outflow tract diseases is changing constantly, however, the Ross-procedure has remained a standard method for 45 years. AIM: The aim of the study was to analyze early and mid-term results of Ross-procedure in congenital heart defects (single surgeon's results). METHODS: From 2001 until 2011 a total of 63 patients (age, 28 days-21 years; mean: 10 years, weight 3.4-96 kg; mean, 8...
February 10, 2013: Orvosi Hetilap
Márcio Sommer Bittencourt, Edward Hulten, Michael M Givertz, Amil M Shah, Ron Blankstein
Shone complex is a rare combination of valvular or supravalvular aortic stenosis, supra-valvular mitral membrane, parachute mitral valve, and coarctation of the aorta. This article presents an unusual case of a 40-year-old woman who presented with a history of progressive dyspnea. We describe the main imaging features and protocol used for visualizing this syndrome using various imaging modalities.
January 2013: Journal of Cardiovascular Computed Tomography
Cağdaş Akgüllü, Ercan Erdoğan
Shone's syndrome is a very rare cardiac malformation composed of four obstructive congenital lesions, which include the parachute mitral valve (PMV), supravalvular ring, subaortic stenosis, and coarctation of aorta. Diagnosis requires a comprehensive examination including a carefully performed echocardiography. It is extremely unusual for a patient to remain undiagnosed during adulthood. Here we report a 26-year-old male patient with Shone's syndrome and patent ductus arteriosus (PDA). The patient reported that he had been suffering from exercise intolerance and aggravating dyspnea...
June 2012: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
Roland W Weber, Ricardo Ayala-Arnez, Merna Atiyah, Yousef Etoom, Cedric Manlhiot, Brian W McCrindle, Edward J Hickey, Edgar T Jaeggi, Lynne E Nield
BACKGROUND: We sought to prospectively determine foetal echocardiographic factors associated with neonatal interventions in borderline hypoplastic left ventricles. METHODS: Foetuses were included who had a left ventricle that was 2-4 standard deviations below normal for length or diameter and had forward flow across the mitral and aortic valves. Factors associated with an intervention in the first month of life or no need for intervention were sought using univariate and multivariate logistic regression models...
February 2013: Cardiology in the Young
Antonio Grimaldi, Anna Chiara Vermi, Francesco Maisano, Francesco Sacco, Alessandro Castiglioni, Alberto Zangrillo, Ottavio Alfieri
BACKGROUND AND AIM OF THE STUDY: Whilst several cases of complete Shone's complex have been reported in children, the incomplete form--characterized by two or three components--has rarely been described in adults. Because of the wide spectrum of severity of each pattern, the correct diagnosis may be challenging. Moreover, as the hemodynamic interdependence between defects is thought to be a major determinant of clinical outcome and long-term follow up, it is crucial to consider the lesions as part of the same Shone's syndrome...
September 2011: Journal of Heart Valve Disease
Xiao-jing Ma, Guo-ying Huang, Xue-cun Liang, Xiao-qin Liu, Bing Jia
Shone's complex is a rare and severe type of congenital left-sided obstructive lesion of multiple cardiovascular levels. This report aims to present the authors' experience diagnosing atypical Shone's complex using echocardiography. Atypical Shone's complex was diagnosed for 38 consecutive patients (18 boys and 20 girls, ages 1 day to 15 years) using echocardiography. All the diagnoses were confirmed by cardioangiography, surgery, or both. Among the congenital left-sided obstructive lesions, four levels of obstruction coexisted in 3 cases (7...
April 2011: Pediatric Cardiology
Kedareshwar P S Narvencar, Ana Karina Jaques e Costa, Vijaysinh R Patil
Shone's complex is a rare congenital heart disease consisting of multiple levels of left sided obstructive lesions including supravalvar mitral ring, parachute mitral valve, subaortic stenosis and coarctation of aorta. The present case report describes a case of complete form of Shone's complex that was incidentally detected in an adult.
May 2009: Journal of the Association of Physicians of India
Bogdan A Popescu, Ruxandra Jurcut, Marinela Serban, Liliana Parascan, Carmen Ginghina
The Shone's complex, defined by four cardiovascular defects such as a supravalvular mitral membrane, valvular mitral stenosis by a parachute mitral valve, subaortic stenosis, and aortic coarctation, is a rare entity, which occurs most frequently in its incomplete form. We report the case of a 19-year-old female patient who presented at the emergency room for progressively worsening dyspnoea, orthopnoea, fever, and productive cough, due to bronchopneumonia. Echocardiography revealed the co-existence of aortic coarctation with bicuspid aortic valves, mitral supravalvular ring, and dysplastic mitral valves producing severe mitral stenosis and severe pulmonary hypertension...
November 2008: European Journal of Echocardiography
Tania Saroli, Sarah Gelehrter, Carlen A Gomez-Fifer, Mary E van der Velde, Edward L Bove, Gregory J Ensing
There has traditionally been less concern regarding coronary anomalies with left-sided congenital heart lesions such as hypoplastic left heart syndrome (HLHS)or Shone complex than with other lesions. However, coronary anomalies in this setting can profoundly affect surgical intervention, particularly when surgical repair involves the ascending aorta. We describe four patients with congenital left-sided heart lesions in which left coronary artery (LCA) anomalies substantially affected intervention and outcome...
August 2008: Echocardiography
Jonah Odim, Hillel Laks, Vivek Allada, John Child, Stacy Wilson, David Gjertson
BACKGROUND: The purpose of this study is to evaluate the efficacy of aortic valve-sparing repair with glutaraldehyde-treated autologous pericardium in congenital valvular pathology. METHODS: Sixty-two patients underwent reparative aortic valve surgery from January 1997 through December 2003. The mean age was 25 +/- 20 years (+/- standard deviation) (range, 10 days to 81 years). Fifty percent (31 of 62) were less than 19 years old at operation. The diagnoses included bicuspid aortic valve (39 patients), ventricular septal defect (14 patients), severe aortic stenosis (6 patients), subaortic stenosis (7 patients), bacterial endocarditis (7 patients), neonatal truncus arteriosus (2 patients), Shone's complex (2 patients), transposition complex (1 patient), double-chambered right ventricle (1 patient), and Marfan's syndrome (1 patient)...
August 2005: Annals of Thoracic Surgery
F Derrer, S Gisin, A Linka, C H Kindler
Shone's anomaly was first described in 1963 as a developmental complex of four potentially obstructive cardiac lesions including a supravalvular fibrous mitral ring, deformity of the mitral and/or subvalvular apparatus, subvalvular aortic stenosis and coarctation of the aorta. While paediatric patients with Shone's anomaly have been reported in the literature, only a few adult patients presenting with this anomaly have been described in the perioperative period. However, patients with an undiagnosed, incomplete form of Shone's anomaly might occasionally present for non-cardiac surgery as adults...
January 2005: Der Anaesthesist
N Zucker, A Levitas, E Zalzstein
OBJECTIVE: To describe a series of fetuses diagnosed as having Shone's syndrome, which includes four cardiac defects and for which there is a wide variety of clinical presentations, surgical treatments and outcomes, and to discuss the counseling strategy. METHODS: We reviewed retrospectively the records of four babies who were suspected prenatally to have Shone's syndrome. RESULTS: The mean age at diagnosis was 27.5 (range, 22-35) weeks. A small left ventricle, mitral and aortic annulus and ascending aorta were detected in three cases...
November 2004: Ultrasound in Obstetrics & Gynecology
M A Radermecker, M Massin, T Grenade, R Limet
The observation of four clinical cases of Shone's complex, two of them presenting first with predominant coarctation of the aorta, prompted us to review the pertinent literature. Patients with multiobstructive lesions of the left heart, including Shone's complex, represent a surgical challenge where the adequate management of mitral valve anomalies, subaortic stenosis, and coarctation constitutes the key prognostic factor for satisfactory mid-term outcome.
July 2001: Revue Médicale de Liège
P Busacca, A Pozzolini, L Minutiello
The trisomy 21 form of Down's syndrome is the most common human chromosomal aberration. Congenital heart disease is found in as many as 50 per cent of patients with this disorder. The two most common cardiac lesions in Down's syndrome are septal ventricular defect and endocardial cushion defect. Secundum atrial septal defect, tetralogy of Fallot and isolated patent ductus arteriosus are also observed in these Down's patients. Transposition of great arteries and coarctation of the aorta are rarely seen. Most patients having Down's syndrome with congenital heart disease have a single lesion...
October 1998: Giornale Italiano di Cardiologia
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