When the heart and hands tell a story: an intriguing case of Holt–Oram syndrome

Abstract

Abstract Background Holt–Oram syndrome is a rare genetic disorder caused by a mutation in the TBX5 gene, combining skeletal and cardiac malformations. Vital prognosis depends essentially on cardiac involvement, while skeletal malformations determine functional prognosis. Case presentation We describe the case of a young patient aged 49, with no particular history, who presented to the emergency department with de novo congestive heart failure. Clinical examination revealed not only signs of heart failure, but also malformations such as triphalangia of the left thumb, prono-supination defects of both forearms and dorsolumbar scoliosis. The electrocardiogram showed that an atypical atrial flutter and transthoracic echocardiography revealed an atrial septal defect. We also performed a spinal scan to assess the severity of the scoliosis. Genetic studies confirmed a TBX5 gene mutation in the patient, and family screening revealed no similar cases in the family. Management consisted mainly of pharmacological treatment of heart failure, in addition to scoliosis management. Conclusion Holt–Oram syndrome is a rare genetic disorder which should be suspected in the presence of any upper limb anomaly associated with cardiac malformation and confirmed by genetic study. A family investigation is necessary after diagnosis, because of autosomal dominant inheritance.