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A 9 year old girl presented with dyspnoea on exertion. General examination showed short stature, polydactyly with clinodactyly, hypoplasia of the nails (below left), gingival hypertrophy, and multiple frenula which are characteristic of Ellis-Van Creveld syndrome. Cardiovascular examination showed features of left to right shunt at atrial level. An ECG revealed left axis deviation of the QRS complex. A transthoracic echocardiogram (below right) from apical four chamber view showed absence of echos from any part of the interatrial septum, which is diagnostic of a common atrium.
Ellis-Van Creveld syndrome is a relatively rare skeletal dysplasia considered mainly as a generalised disorder of the maturation of enchondral ossification. Congenital heart disease occurs in approximately half of the patients with Ellis-Van Creveld syndrome, 60% of which is a common atrium. Common atrium is a rare variety of interatrial communication characterised by absence or virtual absence of the atrial septum, vestigial remnants of which may be occasionally present. Left axis deviation of the QRS complex is usually seen in the ECG.
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