title: MURCS Association: a rare association with patent ductus arteriosus and bicuspid aortic valve.
abstract: An 18 yr old female referred to us as hypertrophic obstructive cardiomyopathy with bicuspid aortic valve. On Initial history and examination patient also had primary amenorrhoea, differential cyanosis in lower limbs, differential clubbing, polydactyly, syndactyly, high arched foot, pectus carinatum and scoliosis. Oxygen saturation was 94% at room air and complete blood count was suggestive of polycythaemia (Hb 20 g/dl, Hct 60%, Tc-16500, RBC count--6.29 million/cumm, Platelet count--1,88000). Imaging studies were done, ultrasonography showed absent uterus, absent left kidney, right ectopic kidney.X-ray foot showed 6th metatarsal with phalanx. 2D ECHO was suggestive of Patent Ductus Arteriosus with reversal of shunt with severe aortic stenosis and bicuspid aortic valve. All these anomalies form part of a syndrome complex called MURCS ASSOCIATION (Mullerian agenesis/aplasia, renal anomalies, and Cervicothoracic Somite deformities).
authors: Ramakrishna
authors: Nikunj
authors: N
authors: Kotecha
authors: Chetan A
authors: CA
authors: Patel
authors: Rushi
authors: R
authors: Pipavat
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000175:diagnosis*; D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D001021:Aortic Valve / Q000002:abnormalities* / Q000000981:diagnostic imaging; D000082882:Bicuspid Aortic Valve Disease; D000013:Congenital Abnormalities / Q000175:diagnosis*; D004374:Ductus Arteriosus, Patent / Q000000981:diagnostic imaging*; D004417:Dyspnea / Q000209:etiology; D005260:Female; D006349:Heart Valve Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D009095:Mullerian Ducts / Q000002:abnormalities*; D014463:Ultrasonography