Heart Failure Secondary to Holt Oram Syndrome, A Rare Congenital Heart Disease.

This is a 30-year-old man with a history of cardiomegaly and fingerprint malformations since childhood, originally from an indigenous community, who presents with functional class deterioration with dyspnea and edema in the lower extremities, is found with oxygen saturation of 82%, in electrocardiogram with right bundle branch block and biatrial dilation with atrial flutter. In chest x-ray with grade IV cardiomegaly, echocardiogram with LVEF of 48%, severe mitral regurgitation, with dilation of the 4 cavities, computed tomography reported patent ductus arteriosus type B of Krichenko with pulmonary hyperflow and data of pulmonary hypertension, anomalous connection of pulmonary veins. Treatment with intravenous diuretic was started with clinical improvement, the genetics service was consulted with a final diagnosis of Holt Oram syndrome; Holt-Oram syndrome, also known as heart-hand syndrome, is an autosomal dominant disorder characterized by upper limb abnormalities associated with congenital heart lesions. The incidence is estimated at 1 in 100,000 people. Overall, congenital heart defects are present in approximately 78.7%. Management involves a multidisciplinary team of specialists in medical genetics, cardiology, orthopedics, and hand surgery. Because Holt-Oram syndrome is a rare condition, information on long-term survival may be limited and should be interpreted with caution.