Bipolar affective disorder associated with thenar hypoplasia: is lithium safe?

Area of Science:

• Cardiology
• Genetics
• Developmental Biology

Background:

• Thenar hypoplasia is a known feature of radial longitudinal deficiency syndromes.
• Holt-Oram syndrome involves concurrent cardiac and skeletal abnormalities.
• Bilateral thenar hypoplasia can present as a milder variant of Holt-Oram syndrome.

Observation:

• A case of bilateral thenar hypoplasia was identified, presenting features similar to a milder form of Holt-Oram syndrome.
• The patient experienced bradycardia following exposure to lithium at therapeutic doses.

Findings:

• This case highlights a potential association between bilateral thenar hypoplasia, resembling Holt-Oram syndrome, and lithium-induced bradycardia.
• The findings suggest a possible link between specific genetic or developmental pathways and cardiac side effects of lithium.

Implications:

• This observation warrants further investigation into the cardiac safety of lithium in patients with limb abnormalities.
• Understanding this association may inform clinical management and genetic counseling for individuals with thenar hypoplasia and related syndromes.
• Further research could elucidate the mechanisms underlying lithium's effect on cardiac function in this specific patient population.