%0 Journal Article
%T Holt-Oram Syndrome in Adult Presenting with Heart Failure: A Rare Presentation
%A Rupesh Kumar
%A Subhendu Sekhar Mahapatra
%A Monalisa Datta
%A Amanul Hoque
%A Swarnendu Datta
%A Soumyajit Ghosh
%A Santanu Datta
%A Subhankar Bhattacharjee
%J Case Reports in Cardiology
%D 2014
%I Hindawi Publishing Corporation
%R 10.1155/2014/130617
%X Holt-Oram syndrome is a rare inherited disorder involving the hands, arms, and the heart. The defects involve carpal bones of the wrist and the thumb and the associated cardiac anomalies like atrial or ventricular septal defects. Congenital cardiac and upper-limb malformations frequently occur together and are classified as heart-hand syndromes. The most common amongst the heart-hand disorders is the Holt-Oram syndrome, which is characterized by septal defects of the heart and preaxial radial ray abnormalities. Its incidence is one in 100,000 live births. Approximately three out of four patients have some cardiac abnormality with common associations being either an atrial septal defect or ventricular septal defect. Herein, we report a rare sporadic case of Holt-Oram syndrome with atrial septal defect with symptoms of heart failure in a forty-five-year-old lady who underwent emergency cardiac surgery for the symptoms. 1. Introduction Holt-Oram syndrome is a rare inherited disorder involving the hands, arms, and the heart. The defects involve carpal bones of the wrist and the thumb and the associated cardiac anomalies like atrial or ventricular septal defects. Congenital cardiac and upper-limb malformations frequently occur together and are classified as heart-hand syndromes. The most common amongst the heart-hand disorders is the Holt-Oram syndrome, which is characterized by septal defects of the heart and preaxial radial ray abnormalities. Its incidence is one in 100,000 live births. Cardiac defects include mainly atrial septal or ventricular septal defect, the electrocardiographic abnormalities ranges from asymptomatic conduction disturbance to variable degree of atrioventricular block. Rare but other cardiac associations include pulmonary stenosis, mitral valve prolapse, and arrhythmias in the form of atrioventricular blocks. More complex cardiac lesions such as tetralogy of Fallot, endocardial cushion defects, and total anomalous pulmonary venous return are also noted in these subjects. The cardiac disease may manifest as an emergency necessitating prompt intervention. 2. Case Report A forty-year-old lady presented to our emergency department with symptoms of severe respiratory distress. She had a history of recurrent episodes of cough and cold and effort breathlessness since childhood. Physical examination revealed elevated jugular venous pressure, bilateral pedal edema, hepatomegaly, blood pressure of 104/66£żmm of Hg, and respiratory rate of 38/min and systemic oxygen saturation was 85% at ambient room air. On musculoskeletal examination, she had
%U http://www.hindawi.com/journals/cric/2014/130617/