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 year s 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.
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Children with Ellis-Van-Creveld syndrome or chondroectodermal dysplasia often manifest growth retardation with association of skeletal abnormalities such as genu valgum, syndactaly, polydactaly, micrognathia, and dental anomalies. The association of a congenital cardiac lesion in Ellis-Van-Creveld syndrome (chondro-ectodermal dysplasia) suggests that cardiac defect may be due to a chromosomal disorder inherited by an autosomal dominant trait. The common atrium identified in a patient with (chondro-ectodermal dysplasia) also may suggest that this congenital cardiac anomaly may be due to a chromosomal disorder inherited by an autosomal dominant trait. Common (single) atrium may occur as an isolated entity or is associated with other congenital cardiac malformations such as ventricular septal defects, Tetralogy of Fallot, Ebstein’s malformation of the tricuspid valve, heterotaxy syndrome, anomalous systemic and pulmonary venous connections, and atrioventricular (AV) canal defects [
We cite a summary of a child with Ellis-Van-Creveld syndrome (chondro- ectodermal dysplasia) presented with a common atrium, anomalous pulmonary venous connection, and partial AV canal septal defect, which was corrected by two patch atrial routing technique to accomplish a bi-ventricular repair.
A 10-year-old boy with chondroectodermal dysplastic syndrome was admitted with recurrent respiratory tract infections, dysponea and mild cyanosis. An informed consent was obtained from the parents of the child for cardiac evaluation and necessary treatment. On physical examination the child exhibited stunted growth with skeletal abnormalities such as genu valgum, syndactaly, polydactaly, micrognathia, and dental anomalies. The heart was enlarged, the second heart sound was wide and fixed with an apical diastolic and a systolic murmur. Echocardiographic examination discerned a common atrium with atrioventricular canal defect, a common AV valve, and AVvalve septal leaflets with AV valve regurgitation (
Patient was placed on cardiopulmonary bypass using bicaval venous cannulation for venous drainage and ascending aortic cannulation for an arterial return. Intra-cardiac repair was performed under moderate systemic hypothermia with
a cold blood cardioplegic arrest. Through a vertical atriotomy incision the morphology of the congenital anomaly was examined. The examination has revealed a common atrium without any remnants of atrial septal tissue. There were clefts in the septal leaflets of both the left and the right atrioventricular (AV) valves with a thin bridge of normal valve tissue separating both the AV valves. Beneath the septal leaflets of the AV valves, a small (0.8 to 0.9 cm) defect was present in the ventricular septum and was partially covered by a membrane which was thin, fibrous, and with an aneurysmal bulge. The defect in the ventricular septum was closed with interrupted pledgeted sutures of 5/0 polypropylene incorporating the overhanging fibrous tissue within the sutures. Cleft in leaflets of both atrioventricular valves were repaired with interrupted 6/0 polypropylene sutures. The connection of the pulmonary veins into the atrium were found to be severely anomalous, i.e., they were inserted into the atrium in much anterior (8 cm) in reference to the openings of both vena cava which were more posteriorly displaced and were in a plane closer to the AV valve. The coronary sinus ostial opening into the atrium was also more posteriorly displaced than usual.
The common atrium was partitioned using two patches of Gore-Tex to separate it into approximately equal portions of systemic and pulmonary venous chambers committed to the tricuspid and mitral valve respectively (
The care of the patient postoperatively was followed by the established standards of cardiorespiratory care. Patient was maintained on mechanical ventilation for the first 24 hours. In addition to heart rate and cardiac rhythm, monitored were the mean systemic arterial pressure, central venous pressure, and the left atrial pressure and these were maintained within normal range. In addition, the chest tube drainage, volume status of the patient and urine output and peripheral tissue perfusion were closely monitored. The tissue perfusion is maintained adequately with infusion of adequate volume, and administration of an infusion of doubutamine at 5 mcg/kg/minute for 72 hours. Post-repair systemic arterial oxygen saturation was 97%. There was no evidence of a leak from the baffle without any evidence of AV valve regurgitation on postoperative echocardiographic examination. Patient required a 10 day period of afterload reduction
with ACE inhibitor, enalapril (5 mg/day) to maintain adequate peripheral perfusion and warm extremities after termination of infusion of doubutamine. The rest of the postoperative course was uneventful and the patient was discharged with a low dose enalapril (2.5 mg/day) for a period of another 4 weeks. The patient was followed monthly for a few months, then every 6 months. At 2-year follow-up the patient was well without any evidence of AV valve regurgitation or a leak from the atrial baffle and had demonstrated good biventricular function.
In common atrium, the heart is a tripartite chamber (tricameral heart) consisting of morphologic right and left ventricles and a single atrium due to arrest in the development of atrial septum. In necropsy studies of the congenital hearts, the common atrium represented only 0.3% to 0.5% of the cases, and in approximately 2% of the specimens of atrial septal defects there was a complete absence of the atrial septum. [
The morphology of common atrium is either of a right or a left atrium, or both atrial morphologies may also coexist. The pulmonary and systemic venous connections to the common atrium are either normal or anomalous [
Surgical correction of common atrium associated with partial atrioventricular canal involves repair of atrioventricular valves and complete atrial septation [
In conclusion, a child with Ellis-Van-Creveld syndrome with physical stigmata of retarded growth and skeletal abnormalities such as genu valgum, syndactaly, polydactaly, micrognathia, and dental anomalies had manifested with cardio-respiratory symptoms. Common atrium with severely anomalous pulmonary venous connection and partial AV canal septal defect was recognized as an associated congenital cardiac anomaly. Successful biventricular repair was accomplished by repairing the partial AV canal septal defect and partitioning the common atrium into an equal size of left and right atrium by a complex atrial routing technique with two patches of Gore-Tex. On follow-up at 2 years, the patient had an adequate biventricular function.
The author declares no conflicts of interest regarding the publication of this paper.
Sirivella, S. (2021) Ellis-Van-Creveld Syndrome and Congenital Cardiac Anomaly: Common Atrium with Atrioventricular Canal Septal Defect. World Journal of Cardiovascular Surgery, 11, 133-140. https://doi.org/10.4236/wjcs.2021.1112017