A29-year-old woman presented with dizziness. Physical and radiographic examinations showed skeletal hand malformations, ie, digitalized triphalangeal thumbs and dystrophy of the carpal bones. When she was 15 years old, an atrial septal defect had been repaired. ECG recordings showed abnormalities of atrial excitation such as a wandering pacemaker, atrial ectopic activity, AV-nodal block, and sinus bradycardia of <60 bpm.
A clinical diagnosis of Holt-Oram syndrome was made. Holt-Oram syndrome is the prototype of heart-hand syndromes and has recently been mapped to the long arm of chromosome 12 (12q2).1 It must be differentiated from heart-hand syndrome type II (Tobatznik’s syndrome) and heart-hand syndrome type III (MIM No. 140450), which are phenotypically similar. The latter do not map to 12q2, and atrial septal defects do not occur in these conditions.2 Approximately 350 cases have been published. The autosomal dominant syndrome has a strong variance in phenotype expression. Approximately 50% of the patients have cardiac malformations. The limb malformations can vary from mild thumb abnormalities to complete absence of the arm. The presence of upper-limb abnormalities in a patient with cardiac disease can be the clue to the diagnosis of a complex congenital syndrome.⇓⇓⇓
The editor of Images in Cardiovascular Medicine is Hugh A. McAllister, Jr, MD, Chief, Department of Pathology, St Luke’s Episcopal Hospital and Texas Heart Institute, and Clinical Professor of Pathology, University of Texas Medical School and Baylor College of Medicine.
Circulation encourages readers to submit cardiovascular images to Dr Hugh A. McAllister, Jr, St Luke’s Episcopal Hospital and Texas Heart Institute, 6720 Bertner Ave, MC1–267, Houston, TX 77030.
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