Holt-Oram syndrome is caused by genetic changes (pathogenic variantss) in the TBX5 gene. The syndrome is inherited in an autosomal dominant manner. A diagnosis of Holt-Oram syndrome may be suspected when a person has symptoms of the syndrome.
The ICD code Q872 is used to code Holt-Oram syndrome Holt–Oram syndrome is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and may also cause heart problems. The syndrome includes an absent radial bone in the arms, an atrial septal defect, and a first degree heart block.
A diagnosis of Holt-Oram syndrome may be suspected when a person has symptoms of the syndrome. An x-ray of the hands, wrists, and arms, echocardiogram of the heart, and genetic testing may be used to confirm the diagnosis.
The only gene known to be associated with Holt-Oram syndrome is the TBX5 gene. A TBX5 gene mutation has been identified in approximately 74% of individuals affected with Holt-Oram syndrome. This is likely to be an underestimate of the true TBX5 mutation frequency, since genetic testing does not always detect all types of mutations.
EntryH01195 DiseaseOther DBsICD-11: LD2F.11 ICD-10: Q87.2 MeSH: C564752 OMIM: 276950 192350 314390 619227ReferencePMID:20849991AuthorsSchramm C, Draaken M, Bartels E, Boemers TM, Aretz S, Brockschmidt FF, Nothen MM, Ludwig M, Reutter HTitleDe novo microduplication at 22q11.21 in a patient with VACTERL association.33 more rows
ICD-10 Code for Congenital malformation syndromes predominantly involving limbs- Q87. 2- Codify by AAPC.
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Seventy-five percent of those affected have a congenital heart malformation. Holt-Oram syndrome is an autosomal dominant genetic condition that is associated with a change (mutation) in the TBX5 gene. While this mutation can be inherited, most cases ...
General Discussion. Holt-Oram syndrome is a disorder that affects approximately 1 in 100,000 individuals. It is characterized by abnormalities in the bones of the upper limb, a family or personal history of a congenital heart malformation, and/or an abnormality in the electrical impulses that coordinate the muscle contractions of the heart ...
The most common heart malformations are ostium secundum atrial septal defect (ASD) and ventricular septal defect (VSD). An ASD is characterized by an abnormal opening in the fibrous partition (septum) that separates the two upper chambers (atria) of the heart.
Individuals with Holt-Oram syndrome are at risk for cardiac conduction defects even if a congenital heart malformation is not present.
In rare cases, if the ventricular beat slows dramatically or stops, affected individuals may black out, have seizures, or experience life-threatening symptoms. Some individuals with mild symptoms are not diagnosed with Holt-Oram syndrome until middle age when symptoms of cardiac conduction disease occur.
The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. Approximately 85% of cases of Holt-Oram syndrome are thought to be due to new mutations in the TBX5 gene. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy.
The ICD code Q872 is used to code Holt-Oram syndrome. Holt–Oram syndrome is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and may also cause heart problems. The syndrome includes an absent radial bone in the arms, an atrial septal defect, and a first degree heart block.
The syndrome includes an absent radial bone in the arms, an atrial septal defect, and a first degree heart block. Holt–Oram syndrome is considered to be a phenocopy of thalidomide, since both the genetic disorder and the teratogenic effects have similar presentations in individuals. Specialty: