Published: Thu, February 23, 2017
World | By Lorena Waters

The Holt-Oram syndrome. | Doctor Roig

The Holt-Oram syndrome. | Doctor Roig

Dear Colleagues, today I am going to explain the Holt-Oram syndrome , "an interesting pathology. I hope you enjoy the content of this article and share it along with your opinions. As usual, I will start with the story of the first case, answering the most common questions.

The syndrome is named after the British Cardiologists Mary Clayton Holt > And Samuel Oram , who first described it in 1960, several members of a family with hypoplastic thumbs and atrial septal defects.

What is The Holt-Oram syndrome is the most common form of heart-hand syndrome characterized by skeletal abnormalities of the upper limbs and congenital heart defects from mild to severe Degree The prevalence is estimated at 1 / 100,000 live births (in Hungary), but several cases have been reported worldwide.

What is the cause?

Holt-Oram syndrome is caused by mutations in the TBX5 gene located on chromosome 12 (12q24.1). TBX5 gene encoding the T-box5, a transcription factor that regulates the expression of other genes involved in the cardiac development and extremities. Over 85% of individuals clinically diagnosed with HOS carry a mutation TBX5. Most of these mutations are "de novo" type, and have an autosomal dominant inheritance.

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HOS diagnosis is based on both clinical findings and family history. What is the Clinical Features?

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How to proceed with Treatment?

The < Is a multidisciplinary team involving geneticists, cardiologists, orthopedic surgeons and psychologists. Patients with advanced heart block may require a permanent pacemaker. One echocardiogram is recommended every three years for the presence of cardiac abnormalities. It is recommended to electrocardiogram (ECG) adults on a yearly basis.

Colleagues I sincerely hope that this article has been interesting and has provided everything about this disease. I remind you that in the mobile application Syndromes (available soon on App Store and Google Play) you will have access to all information related to rare diseases in the world. My advice and that of my colleagues is only one, "Do not miss it," Sincerely, Dr. Roig. Bonnet D, Pelet A, Legeai-Mallet L, Sidi D. The gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12. Nature Genetics 1994 , 6, 405-8. Basson CT, Cowley GS, Solomon SD, Weissman B. The clinical and genetic spectrum of the Holt-Oram syndrome. N Engl J Med 1994; 330: 885-91. Holt, M. and S. Oram. Familial heart disease with keletalmal formations. Brit.HeartJ. Montagut P. Holt-Oram syndrome in a newborn infant. [Full text - PDF] [Full text - PDF] Arch Pediatr 1996; 47: 41-4. Terret J, Newbury-Ecob R, Cross G, Fenton I. Holt-Oram syndrome is a genetically heterogeneous disease with one locus Mapping to human chromosome 12q. Nature Genetics 1994; 6: 401-4.

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