Working Diagnosis:
Salter-Harris II Fracture of the Proximal Humerus in the Setting of Holt-Oram Syndrome

Treatment:
She was managed with a hanging arm cast Case Photo #6 , which used its weight and length adjustments to correct the angulation and allow for reduction and healing.

Outcome:
At 6 weeks, she had significant periosteal reaction as well as clinically no longer having any tenderness to palpation of the humerus. Her cast was removed, and she was referred to pediatric cardiology for electrocardiogram and echocardiogram as well as to her primary care physician for follow-up. Her follow-up echocardiogram showed no changes in regard to her ventricular septal defect, and they recommended follow-up in 2 years with no activity restrictions. Her electrocardiogram showed first-degree atrioventricular block, so she was given a Holter monitor and continue to monitor yearly for progression.

Author's Comments:
Holt-Oram syndrome is an autosomal dominant condition that affects the TBX-5 gene on chromosome 12. Chromosome 12 is very important in the development of the heart and upper limbs. This condition is characterized by upper limb malformation (abnormal carpal bone, radius, or thumb), congenital heart malformation (atrial septal defect or ventricular septal defect), and cardiac conduction disease (sinus bradycardia, atrioventricular block, or atrial fibrillation). Patients need to be monitored with serial electrocardiogram/Holter monitors to assess their risk for progression of conduction abnormalities as well as receive echocardiograms every 1-5 years depending on the significance of septal defects. The upper limb abnormalities are often bilateral and asymmetrical with the left side being more severely affected. The most specific upper limb finding is abnormalities of the carpal bone. It takes a multidisciplinary team to help manage these patients including cardiology, genetics, orthopedics, and primary care physician.

Another important point, in this case, is the significant remodeling potential of the proximal humerus in children less than 12. The hanging arm cast can be used to reduce and heal angulated or displaced humerus fractures in this population due to the great remodeling potential and allows for conservative management. The hanging arm cast does a good job of fatiguing the muscles that span the fracture, which allows for the correction of the deformity.

Editor's Comments:
This case underlies the importance of not only the pediatric fracture that as in this case was treated non operatively but the other physical exam findings that were also noticed upon inspection to follow-up with a complete cardiac examination and further work up. Importantly, the life expectancy for Holt-Oram syndrome varies among affected individuals and depends on the severity of the congenital heart defect.

References:
Huang, T. (2002). Current advances in Holt-Oram syndrome. Current Opinion in Pediatrics, 14(6), 691-695.

Sletten, L. J., & Pierpont, M. E. M. (1996). Variation in severity of cardiac disease in Holt‐Oram syndrome. American journal of medical genetics, 65(2), 128-132.

McDermott, D. A., Fong, J. C., & Basson, C. T. (2019). Holt-Oram Syndrome.

Pahlavan, S., Baldwin, K. D., Pandya, N. K., Namdari, S., & Hosalkar, H. (2011). Proximal humerus fractures in the pediatric population: a systematic review. Journal of children's orthopaedics, 5(3), 187-194.

Kim, A. E., Chi, H., & Swarup, I. (2021). Proximal humerus fractures in the pediatric population. Current reviews in musculoskeletal medicine, 1-8.

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