Heart-Hand Syndrome with Sub-aortic Membrane - A Case Report

Background-Congenital cardiac and upper-limb malformations frequently occur in association and are classified as heart -hand syndromes. The classical form of Holt-Oram syndrome is an autosomal dominant disorder characterized by congenital cardiac and forelimb anomalies, first described byHolt Oram in a family with atrial septal defect and congenital anomalies of the thumbs in 1960.Case report- A 28-year old male with anomalies in both upper limbs was admitted with history of NYHA Class III dyspnea and fever of 1 week duration There was no family history of heart disease. On examination, was short-statured and had skeletal anomalies in both his upper limbs. Cardiovascular examination revealed grade 4 pansystolic murmur in the left parasternal area and bilateral basal rales in both lung fields.Skeletal X-rays showed hypoplastic thumb in left hand and club radius and ulna with hypoplastic thumb on the right side. Transthoracic Echocardiogram (TTE) revealed a small perimembranous ventricular septal defect (VSD)witha sub-aortic membrane and mild aortic regurgitation . A vegetation was seen attached to the aortic side of the right coronary cusp .His blood cultures grew Corynebacterium species which was treated with parentral antimicrobial therapy for 4-weeks after which he was referred for surgical correction of his cardiac defects.Conclusion- The heterogeneity of presentation of Heart-hand syndromes is well known. Our patient, probably a sporadic mutant had ventricular septaldefect, sub-aortic membrane ,aortic regurgitation and infective endocarditis of the aortic valve as cardiac defects. Subaortic membrane has hitherto never been reported in association with Holt-Oram syndrome in literature.