The classical description of this syndrome of upper limb abnormalities and congenital heart lesions was by Holt and Oram in 1960.1 They were from King's College Hospital in London and reported a four generation family with nine affected subjects. Many other families were then recognised to have the same condition, which led to a series of reports in the early 1960s. The names atriodigital dyspl...

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 si...

Atrial Fibrillation and Other Clinical Manifestations of Altered TBX5 Dosage in Typical Holt–Oram Syndrome To the editor: We were pleased to read the recent study in Circulation Research by Postma et al1 that describes an activation mutation in TBX5 that causes Holt–Oram syndrome. These exciting findings validate prior studies (reviewed elsewhere2) showing that cytogenetic abnormalities that pr...

Holt-Oram syndrome (HOS) is a rare disorder characterized by congenital anomalies of the upper limbs and heart. Cardiac arrhythmias are common in patients with HOS. We successfully managed a 24-yr-old woman with HOS who underwent laparoscopic ovarian cystectomy. Potential problems in the anaesthetic management of patients with HOS are discussed.

The Holt-Oram syndrome is an autosomal dominant heritable disorder characterized by skeletal upper-limb dysplasias and congenital cardiac defects. We describe a 43-year-old woman who presented with paroxysmal tachycardia and progressive heart failure. Both ring fingers were abnormally short as a result of dysplasia of metacarpal IV (Figure 1). Auscultation revealed a loud systolic murmur at the...

We present a rare case of familial Holt-Oram syndrome diagnosed sonographically at 18 weeks of gestation. The foetus had serious bilateral upper limb malformations, a ventricular septal defect and a type B interrupted aortic arch, while the mother had bilateral upper limb malformations only. The pregnancy was terminated. A pathological and radiological examination of the foetus confirmed the pr...

Quantum nonlocality stands as a resource for device independent quantum information processing (DIQIP), such as, for instance, device independent quantum key distribution. We investigate, experimentally, the assumption of limited measurement dependence, i.e., that the measurement settings used in Bell inequality tests or DIQIP are partially influenced by the source of entangled particle and/or ...