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Rheumatic valvular insufficiency in Bardet-Biedl syndrome: a case report
Radheshyam Purkait1, Birendra Nath Roy, Tryambak Samanta
1Department of Paediatric Medicine, NRS Medical College and Hospital, Kolkata 700014.
Insights
Bardet-Biedl syndrome (BBS) typically involves congenital heart defects. This case highlights an unusual presentation of acquired rheumatic valvular regurgitation in a 10-year-old boy with BBS.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder affecting multiple organ systems.
- Cardiac involvement in BBS commonly manifests as congenital heart disease.
- Acquired valvular heart disease is an exceptionally rare complication in BBS patients.
Abstract:
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with multisystem affection. Cardiac Involvement, when present is usually in the form of congenital heart disease. However, valvular involvement due to acquired heart disease is extremely unusual. Herein, a 10-year-old boy of Bardet-Biedl syndrome is reported who presented with multiple rheumatic valvular regurgitation.
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