Holt-Oram syndrome

Jump to: navigation, search
Holt-Oram syndrome
ICD-10 Q87.2
OMIM 142900
DiseasesDB 5988

WikiDoc Resources for Holt-Oram syndrome

Articles

Most recent articles on Holt-Oram syndrome

Most cited articles on Holt-Oram syndrome

Review articles on Holt-Oram syndrome

Articles on Holt-Oram syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Holt-Oram syndrome

Images of Holt-Oram syndrome

Photos of Holt-Oram syndrome

Podcasts & MP3s on Holt-Oram syndrome

Videos on Holt-Oram syndrome

Evidence Based Medicine

Cochrane Collaboration on Holt-Oram syndrome

Bandolier on Holt-Oram syndrome

TRIP on Holt-Oram syndrome

Clinical Trials

Ongoing Trials on Holt-Oram syndrome at Clinical Trials.gov

Trial results on Holt-Oram syndrome

Clinical Trials on Holt-Oram syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Holt-Oram syndrome

NICE Guidance on Holt-Oram syndrome

NHS PRODIGY Guidance

FDA on Holt-Oram syndrome

CDC on Holt-Oram syndrome

Books

Books on Holt-Oram syndrome

News

Holt-Oram syndrome in the news

Be alerted to news on Holt-Oram syndrome

News trends on Holt-Oram syndrome

Commentary

Blogs on Holt-Oram syndrome

Definitions

Definitions of Holt-Oram syndrome

Patient Resources / Community

Patient resources on Holt-Oram syndrome

Discussion groups on Holt-Oram syndrome

Patient Handouts on Holt-Oram syndrome

Directions to Hospitals Treating Holt-Oram syndrome

Risk calculators and risk factors for Holt-Oram syndrome

Healthcare Provider Resources

Symptoms of Holt-Oram syndrome

Causes & Risk Factors for Holt-Oram syndrome

Diagnostic studies for Holt-Oram syndrome

Treatment of Holt-Oram syndrome

Continuing Medical Education (CME)

CME Programs on Holt-Oram syndrome

International

Holt-Oram syndrome en Espanol

Holt-Oram syndrome en Francais

Business

Holt-Oram syndrome in the Marketplace

Patents on Holt-Oram syndrome

Experimental / Informatics

List of terms related to Holt-Oram syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and Keywords: HOS1; heart-hand syndrome; atriodigital dysplasia

Overview

Holt-Oram syndrome is a disorder that affects bones in the arms and hands (the upper limbs) and is associated with atrial septal ostium secundum defects.

Pathophysiology

Genetics

Holt-Oram syndrome is considered an autosomal dominant disorder, which means one copy of the altered gene in each cell is sufficient to cause this syndrome. Many cases of Holt-Oram syndrome result from new mutations in the TBX5 gene and occur in people with no history of the disorder in their family.

Mutations in the TBX5 gene cause Holt-Oram syndrome. The TBX5 gene plays a role in the development of the heart and upper limbs before birth. In particular, this gene appears to be important for the process that divides the developing heart into four chambers (cardiac septation). The TBX5 gene also appears to play a critical role in regulating the development of bones in the arm and hand. Mutations in this gene probably disrupt the development of the heart and upper limbs, leading to the characteristic features of Holt-Oram syndrome.

Associated Conditions

About 75 percent of individuals with Holt-Oram syndrome have heart problems. The most common problem is a defect in the muscular wall, or septum, that separates the right and left sides of the heart. Atrial septal defects (ASD) are caused by a hole in the septum between the left and right upper chambers of the heart (atria), and ventricular septal defects (VSD) are caused by a hole in the septum between the left and right lower chambers of the heart (ventricles). Sometimes people with Holt-Oram syndrome have cardiac conduction disease, which is caused by abnormalities in the electrical system that coordinates contractions of the heart chambers. Cardiac conduction disease can lead to problems such as a slower-than-normal heart rate (bradycardia) or a rapid and ineffective contraction of the heart muscles (fibrillation). Cardiac conduction disease can occur along with other heart defects (such as septal defects) or as the only heart problem in people with Holt-Oram syndrome.

Epidemiology and Demographics

Holt-Oram syndrome is estimated to affect 1 in 100,000 individuals.

Diagnosis

Physical Examination

Extremities

All people with this disorder have at least one limb abnormality that affects bones in the wrist (carpal bones). Often, these wrist bone abnormalities can be detected only by X-ray. Affected individuals may have additional bone abnormalities that can include a missing thumb or a thumb that looks like a finger, partial or complete absence of bones in the forearm, an underdeveloped bone of the upper arm, and abnormalities that affect the collar bone and shoulder blades. Bone abnormalities may affect each arm differently, and the left side can be affected more than the right side. In some cases, only one arm and/or hand is affected.

See also

References

External links

de:Holt-Oram-Syndrom



Linked-in.jpg