Situs ambiguous in an adult with congenital cardiovascular and musculoskeletal defect

ABSTRACT

Situs ambiguous [SA] is an abnormality in which the thoracic and abdominal organs are not clearly lateralized. Situs ambiguous with polysplenia is usually associated with complex cardiovascular abnormalities and rarely found among adults due to high mortality at younger age. We are reporting a rare cluster of Situs ambiguous with polysplenia [left isomerism] in an adult with congenital hand deformity and cardiovascular pathology, who presented with ascites and decompensated congestive cardiac failure due to dilated cardiomyopathy. He had congenital agenesis of left hand fingers and hypoplastic left thumb. Electrocardiogram and imaging findings were consistent with dextrocardia, Situs inversus and features of left isomerism. Echocardiography showed severe biventricular failure with prominent coronary sinus. Such a combination of musculoskeletal and cardiovascular pathologies was not reported in the literature. His coronary arteries were normal. He had successful single chamber Implantable Cadioverter Defibrillator [ICD] insertion