Ellis-Van-Creveld Syndrome and Congenital Cardiac Anomaly: Common Atrium with Atrioventricular Canal Septal Defect

Background: Children presenting with physical features of chondro-ectodermal dysplasia (Ellis-Van Creveld syndrome) such as skeletal and joint abnormalities often have concomitant congenital cardiac anomalies. Presence of cardiorespiratory symptoms in children with Ellis-Van Craved syndrome warrants a thorough cardiologic evaluation to recognize and treat underlying congenital heart anomaly. Aim: A child with physical stigmata of Ellis-Van-Creveld syndrome is evaluated to detect an associated congenital cardiac anomaly and accomplish successful repair of the underlying cardiac lesion to reduce the cardiac related morbidity and improve the patient survival. Case Presentation: Ten years old boy with chondroectodermal dysplasia (dental anomalies, genu valgum and other skeletal abnormalities) presented with dyspnea and cyanosis. Cardiac evaluation by 2D echo revealed an atrioventricular (AV) canal septal defect with AV valve regurgitation and a common atrium. Angiocardiography showed a goose neck deformity of the left ventricular outflow tract. The Qp/Qs was 3.4: 1, with systemic arterial oxygen desaturation (SaO2 of 0.7) and O2 saturation in the common atrium was 0.7. The pulmonary venous connections to the common atrium were anomalous. Atriotomy on cardiopulmonary bypass and on a cardioplegic arrest discerned a partial AV canal septal defect with a common bridging leaflet, clefts in septal leaflets of tricuspid and mitral vlalves, an incompletely closed interventricular communication, and a common atrium with highly anomalous pulmonary venous insertions well anterior (8 cm) to vena caval orifices. Intracardiac repair was performed with two patches of Goertex to partition the common atrium into the pulmonary and systemic venous chambers after repair of the partial AV canal septal defect. Patient required only a temporary afterload reduction with enalapril;otherwise patient had an uneventful postoperative course. At a 2-year follow-up, the child was well without AV valve regurgitation and had normal biventricular function. Conclusion: A child with Ellis-Van-Creveld syndrome with skeletal abnormalities and dental anomalies had manifested with cardio-respiratory symptoms. Preoperative cardiac and intraoperative evaluation showed a common atrium with severely anomalous pulmonary venous connection and partial AV canal septal defect. Successful biventricular repair was accomplished by repairing the partial AV canal septal defect and partitioning the common atrium into left and right atrium by a complex atrial routing technique with two patches of Gore-Tex. On a follow-up at 2 years, the patient had adequate biventricular function without AV valve regurgitation. 114264

Natural History of a Transitional Atrioventricular Septal Defect in an Adult Patient with Down Syndrome

Background: Atrioventricular septal defects (AVSD) are caused by a lack of development in atrioventricular endocardial cushions. Its spectrum varies from partial to transitional, or intermediate forms with a common AV valve and 2 orifices, or even the complete form. Aim: The aim of this study is to present a case of a woman in the fifth decade of life with Down syndrome and a transitional AVSD, diagnosed with echocardiography. Case presentation: This is a patient in the fifth decade of life with Down syndrome, transitional AVSD, and severe pulmonary hypertension. Her vital signs were normal, oxygen saturation of 89% on room air. Auscultation revealed pronounced pulmonary component of the second heart sound, diastolic murmur in second left intercostal space, and moderate holosystolic heart murmur that radiated to axilla. The diagnosis was made with a transthoracic echocardiogram. The patient is receiving only medical treatment and since her last consult she has New York Heart Association (NYHA) functional class II. Conclusion: This case demonstrates the natural history of a patient in her fifth decade of life with down syndrome and complex congenital heart disease, despite having received only medical treatment, she is in functional class II. Echocardiography is the noninvasive technique of choice in the diagnosis and follow-up of patients with congenital heart diseases, as seen in this case.

MORPHOLOGICAL DIAGNOSIS OF ATRIOVENTRICULAR SEPTAL DEFECT: COMPARISON BETWEEN TWO DIMENSIONAL ECHOCARDIOGRAPHY, ANGIOCARDIOGRAPHY AND SURGERY

The selection and result of operative procedure for repairing atrioventricular septal defect (AVSD) are largely dependent on completeness and accuracy of preoperative morphological diagnosis. To evaluate the value of two dimensional echocardiographic (2DE) technique devised specifically for morpholagical diagnosis, the results of 2DE,angiocardiography and surgery were examined retrospectively in 87 children with AVSD.Age ranged from 3 months to 11 years old (mean 3.9 years). 46 had partial AVSD, 12 had transitional AVSD, 29 had complete AVSD (type A in 21, type B in 4, type C in 4).2DE diagnosis is concordant with surgical diagnosis in 36/37 (97%) patients with partial AVSD, in 25/31 (84%) patients with transitional or complete AVSD. Most discordant diagnosis between 2DE and surgery occurred in patients with transitional or type A AVSD.The 2DE technique for morphological diagnosis of A VSD is superior to angiocardiography.The results indicated that morphological manifestations of AVSD could be clearly demonstrated with the use of apical and subxiphoid 2D imaging planes, reliable morphological diagnosis could be obtained.

Congenital heart“Challenges”in Down syndrome

In this editorial,we comment on the article by Kong et al published in the recent issue of the World Journal of Cardiology.In this interesting case,the authors present the challenges faced in managing a 13-year-old patient with Down syndrome(DS)and congenital heart disease(CHD)associated with pulmonary arterial hypertension.In this distinct population,the Authors underscore the need for early diagnosis and management as well as the need of a multidisciplinary approach for decision making.It seems that the occurrence of CHD in patients with DS adds layers of complexity to their clinical management.This editorial aims to provide a comprehensive overview of the intricate interplay between DS and congenital heart disorders,offering insights into the nuanced diagnostic and therapeutic considerations for physicians.