ICD10 code of Holt Oram Syndrome and ICD9 code

Holt-Oram syndrome is classified under the ICD-10 code Q87.2, which covers congenital malformation syndromes predominantly involving limbs. While the older ICD-9 system is largely retired, Holt-Oram syndrome was historically documented under code 759.89, representing other specified congenital anomaly syndromes.

What is the clinical significance of Holt-Oram syndrome?

Holt-Oram syndrome, also known as heart-hand syndrome, is a rare genetic condition characterized by skeletal abnormalities of the upper limbs and congenital heart defects. Because Holt-Oram syndrome affects both the cardiovascular and skeletal systems, medical coding is essential for coordinating multidisciplinary care between cardiologists and orthopedists.

How is Holt-Oram syndrome diagnosed?

The diagnosis of Holt-Oram syndrome is typically based on clinical findings, specifically the presence of radial ray malformations and cardiac septal defects. Genetic testing is the gold standard for confirmation, as Holt-Oram syndrome is caused by mutations in the TBX5 gene. Identifying these mutations helps confirm the clinical diagnosis and informs genetic counseling for affected families.

Is Holt-Oram syndrome hereditary?

Yes, Holt-Oram syndrome follows an autosomal dominant inheritance pattern. This means that an individual with the condition has a 50% chance of passing the TBX5 mutation to their offspring. It is important to note that the severity of Holt-Oram syndrome can vary significantly, even among family members carrying the exact same genetic mutation.

Common clinical features associated with Holt-Oram syndrome

• Absent or malformed thumb (triphalangeal or hypoplastic thumbs).


• Abnormalities of the carpal bones in the wrist.


• Atrial septal defects (ASD) in approximately 40% of cases.


• Ventricular septal defects (VSD) in approximately 30% of cases.


• Conduction system abnormalities, such as heart block or bradycardia.

Next steps

• Consult with a clinical geneticist to discuss testing for the TBX5 gene.


• Schedule a comprehensive echocardiogram and EKG with a pediatric or adult congenital cardiologist.


• Connect with the 76 members of the Holt-Oram syndrome community at DiseaseMaps.org to share experiences and resources.

Medical disclaimer: This information is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Holt-Oram syndrome.


• Orphanet: Rare disease database, ORPHA:404.


• OMIM (Online Mendelian Inheritance in Man): #142900, Holt-Oram Syndrome.