Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease
نویسندگان
چکیده
منابع مشابه
Holt-Oram syndrome.
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...
متن کاملThe Holt-Oram syndrome.
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...
متن کاملHolt-Oram syndrome.
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.
متن کاملHolt-Oram syndrome.
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...
متن کاملHolt-Oram syndrome (case report).
The Holt–Oram syndrome or atriodigital dysplasia is an autosomal dominant disorder with near complete penetrance and variable expression, caused by mutations of the TBX5 gene (12q24.1), affecting one in 100 000 live births. 60% of cases are familial and 40% sporadic. We present the case of a 8 months old male patient presented with respiratory problem .Patient had characteristic right sided han...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: HeartRhythm Case Reports
سال: 2018
ISSN: 2214-0271
DOI: 10.1016/j.hrcr.2017.12.002