Purpose
Timothy syndrome (TS) is characterized by congenital long-QT arrhythmia and limb syndactyly.
Patients who undergo syndactyly repair with undiagnosed TS may have their abnormal
cardiac electrical activity unmasked during surgery. The purpose of this study was
to detail the extremity phenotype seen in patients with TS, which may help hand surgeons
in their preoperative assessment.
Methods
This was a retrospective review of all patients with TS seen at our institution from
1998 to 2022. Descriptive statistics regarding their demographics, medical and surgical
histories, and syndactyly phenotypes were obtained.
Results
Seven patients (5 males and 2 females) with TS were seen at our institution for multidisciplinary
evaluation (median age at presentation was 23 months). Six patients had finger syndactyly
and 5 had toe syndactyly. One patient did not have any extremity syndactyly and was
noted to have a specific TS mutation known to lack musculoskeletal abnormalities.
All patients with finger syndactyly had border digit involvement, with 5 out of 6
patients displaying syndactyly of the middle-ring and ring-little finger web spaces.
Toe syndactyly was more heterogeneous, with 1 patient lacking any lower extremity
syndactyly and others having variable involvement of the second-third, third-fourth,
and fourth-little toe web spaces. Complexity ranged from simple to complete. Four
patients had intraoperative cardiac events leading to TS diagnoses after surgery.
Conclusions
Bilateral border digit hand syndactyly, with or without bilateral toe syndactyly,
should raise concerns for TS and prompt further investigation into potential cardiac
disease to avoid perioperative cardiac morbidity and mortality.
Type of study/level of evidence
Therapeutic V.
Key words
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Article Info
Publication History
Published online: November 03, 2022
Accepted:
September 12,
2022
Received:
June 4,
2022
Publication stage
In Press Corrected ProofFootnotes
No benefits in any form have been received or will be received related directly or indirectly to the subject of this article.
Identification
Copyright
© 2022 by the American Society for Surgery of the Hand. All rights reserved.
