Ellis-Van-Creveld Syndrome and Congenital Cardiac Anomaly: Common Atrium with Atrioventricular Canal Septal Defect ()
ABSTRACT
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.
Share and Cite:
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. doi:
10.4236/wjcs.2021.1112017.
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