Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes

1997 ◽  
Vol 18 (1) ◽  
pp. 74-75 ◽  
Author(s):  
Maria Cristina Digilio ◽  
Bruno Marino ◽  
Aldo Giannotti ◽  
Bruno Dallapiccola
Keyword(s):  
Atrioventricular Canal ◽  
Postaxial Polydactyly ◽  
Atrioventricular Canal Defect

scholarly journals Ellis Van Creveld Syndrome with Synpolydactyly, an Antenatal Diagnosis with Postnatal Correlation

2011 ◽  
Vol 1 ◽  
pp. 59 ◽  
Author(s):  
Nischal G Kundaragi ◽  
Kishor Taori ◽  
Ritesh Kumawat ◽  
Jawahar Rathod ◽  
Atul E Sawant
Keyword(s):  
Antenatal Diagnosis ◽  
Heart Diseases ◽  
English Literature ◽  
Dental Anomalies ◽  
Atrioventricular Canal ◽  
Postaxial Polydactyly ◽  
Atrioventricular Canal Defect ◽  
Nail Dysplasia ◽  
Ellis Van Creveld Syndrome ◽  
The Right

Ellis Van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, presents at birth with short limbs accompanied by postaxial polydactyly, nail dysplasia, and dental anomalies. Other manifestations of EVC include atrial septum defects and other congenital heart diseases. We report a case of the EVC syndrome with postaxial polydactyly (Synpolydactyly with seven fingers on the right side and hexadactyly on the left side) and a partial atrioventricular canal defect diagnosed antenatally. This variation of EVS has not been reported in English literature till date.

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene

2020 ◽  
Vol 41 (12) ◽  
pp. 2087-2093
Author(s):  
Francesca Piceci‐Sparascio ◽  
Adrian Palencia‐Campos ◽  
Patricia Soto‐Bielicka ◽  
Angela D'Anzi ◽  
Valentina Guida ◽  
...  
Keyword(s):  
Atrioventricular Canal ◽  
Postaxial Polydactyly ◽  
Common Atrium ◽  
Atrioventricular Canal Defect ◽  
Ellis Van Creveld Syndrome ◽  
Clinical Subtype

Abstract 14773: Biventricular Conversion After Fontan Completion: A Preliminary Experience

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Ilias P Doulamis ◽  
Supreet P Marathe ◽  
Breanna L Piekarski ◽  
Rebecca S Beroukhim ◽  
Gerald R Marx ◽  
...  
Keyword(s):  
Fontan Circulation ◽  
Exercise Intolerance ◽  
Optimal Timing ◽  
Atrioventricular Canal ◽  
Protein Losing Enteropathy ◽  
Systolic Volume ◽  
Hepatic Congestion ◽  
Atrioventricular Canal Defect ◽  
Fontan Physiology ◽  
Failing Fontan

Hypothesis: Biventricular conversion (BiVC) following takedown of Fontan circulation is feasible and results in improved hemodynamics. Methods: Retrospective analysis of patients who had takedown of Fontan circulation and conversion to BiV circulation at a single center from September 2007 to April 2020. Failing Fontan physiology was defined as Fontan circulation pressure >15 mmHg. Results: There were 23 patients (median age: 10.0 (7.5-13.0) years); 15 (65%) had failing Fontan physiology and 8 (35%) underwent elective takedown of their Fontan circulation. Of the 15 patients with failing Fontan physiology, 4 had exercise intolerance or cyanosis, 3 had hepatic congestion or cirrhosis, 3 had end-organ damage and 1 patient had protein losing enteropathy; the rest 4 patients had no other sign of SVP complications. A subset of patients (n=6) underwent recruitment of the non-dominant ventricle prior to conversion. HLHS (p<0.01) and sub-/aortic stenosis (p<0.01) were more common in these patients. BiVC with or without staged ventricular recruitment led to a significant increase in indexed end-diastolic volume (p<0.01), indexed end-systolic volume (p<0.01) and ventricular mass (p<0.01) of the non-dominant ventricle (14 RV, 9 LV). There were 1 (4%) early and 4 (17%) late deaths. All who underwent elective BiVC survived, while 2-year survival rate for patients with a failing Fontan circulation was 72.7% (95% CI: 37-90%) (Figure 1). The overall, 1-year reintervention free survival was 44.1% (95% CI: 21-65%). Left dominant atrioventricular canal defect (p<0.01) and early year of BiVC (p=0.02) were significant predictors for mortality. Conclusions: BiVC is feasible in patients with failing Fontans, and has promising outcomes after elective takedown of Fontan circulation. A staged approach for ventricular recruitment does not seem inferior to primary BiVC. The optimal timing for BiVC in Fontan patients needs further evaluation.

Pulmonary Autograft Mitral Valve Replacement (Ross II): Long-Term Follow-Up of a US Center

2018 ◽  
Vol 9 (6) ◽  
pp. 645-650
Author(s):  
David Blitzer ◽  
Jeremy L. Herrmann ◽  
John W. Brown
Keyword(s):  
Mitral Valve ◽  
Valve Replacement ◽  
Mitral Valve Replacement ◽  
Sudden Cardiac Arrest ◽  
Right Heart Failure ◽  
Atrioventricular Canal ◽  
Pulmonary Autograft ◽  
Atrioventricular Canal Defect

Background: Mitral valve replacement (MVR) with a pulmonary autograft (Ross II) may be a useful technique for pediatric and young adult patients who wish to avoid anticoagulation. Our aim was to evaluate the long-term outcomes of the Ross II procedure at our institution. Methods: Patients undergoing the Ross II procedure between June 2002 and April 2008 were included. Preoperative diagnoses included rheumatic disease (n = 5), congenital mitral valve (MV) pathology (partial atrioventricular canal defect [n = 2], complete atrioventricular canal defect [n = 1], Shone's complex [n = 1]), and myocarditis (n = 1). Results: Ten patients (eight females and two males) between 7 months and 46 years were included. Mean age at surgery was 25.2 ± 15.7 years. There were no in-hospital deaths. Mean follow-up was 11.7 ± 5.2 years. There were three late deaths at 11 months, 5 years, and 11 years, respectively. Causes of death included right heart failure, sepsis, and sudden cardiac arrest. Three patients required subsequent mechanical MVR a median of two years after the Ross II procedure (range: 1-4 years). There was no mortality with reoperation. Echocardiographic follow-up demonstrated mean MV gradients ranging from 2.2 to 9.6 mm Hg. Two patients had greater than mild MV regurgitation postoperatively, and all others had minimal mitral regurgitation or less. Two patients developed moderate MV stenosis. Conclusions: The Ross II procedure is an option for select older children and young adults desiring a durable tissue MVR to avoid long-term anticoagulation.

scholarly journals Case Report: A Rare Case of Right-Sided Papillary Fibroelastoma in a 1-Year-Old With Congenital Heart Disease

2021 ◽  
Vol 7 ◽  
Author(s):  
Ali Ahmad ◽  
Edward A. El-Am ◽  
Reto D. Kurmann ◽  
Donald J. Hagler ◽  
Melanie C. Bois ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Case Report ◽  
Mitral Regurgitation ◽  
Rare Case ◽  
Congenital Heart ◽  
Cardiac Tumors ◽  
Atrioventricular Canal ◽  
Case Summary ◽  
Atrioventricular Canal Defect

Introduction: Cardiac papillary fibroelastomas (PFEs) are the most common primary benign cardiac tumors, although they are somewhat unusual in children and typically seen on the left-sided cardiac valves.Case summary: A 10-week-old patient was found to have a partial atrioventricular canal defect, with associated tricuspid and mitral regurgitation. He was medically managed until 1 year of age, when surgical correction was done. During the procedure, a PFE was found incidentally on the TV.Conclusion: This is one of the youngest patients to be reported with PFE, thus adding to the literature of these unusual cases in children.

Correction of complete atrioventricular canal defect

1966 ◽  
Vol 18 (5) ◽  
pp. 769-776 ◽  
Author(s):  
Norman B. Thomson ◽  
Faustino N. Niguidula ◽  
Arno Hohn
Keyword(s):  
Atrioventricular Canal ◽  
Atrioventricular Canal Defect ◽  
Complete Atrioventricular
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