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[Holt-Oram syndrome: cardiological, radiological and genetic evaluation]
V Donadeo1, M Solarino, O Alfieri
1Divisione di Cardiologia, Centro Traumatologico Ortopedico, Bari.
Insights
This case study details a 63-year-old woman with Holt-Oram syndrome who developed severe hemolytic anemia and renal insufficiency after mitral valve repair. Valve replacement became necessary, leading to improved function.
Area of Science:
- Cardiology
- Genetics
- Hematology
Background:
- Holt-Oram syndrome is a congenital disorder affecting upper limb and cardiac development.
- The patient had a history of interatrial defect repair and presented with skeletal abnormalities.
Observation:
- The patient experienced severe mitral insufficiency with ruptured chordae tendinae.
- Following mitral valve reconstruction, she developed unusual hemolytic anemia and acute renal insufficiency.
Findings:
- Valve replacement was required due to complications from the initial mitral valve reconstruction.
- The patient's karyotype was normal, and she recovered to NYHA functional class I.
Implications:
- This case highlights the complex cardiac and systemic complications that can arise in Holt-Oram syndrome.
- It underscores the need for careful monitoring and management of patients with this condition, including potential need for valve replacement.
Abstract:
A case of a 63-year-old woman with Holt-Oram syndrome is presented. The patient, operated at 38 years for correction of an interatrial defect of the ostium secundum type presented with upper extremity skeletal abnormalities, in particular on the left, and a severe mitral insufficiency with ruptured chordae tendinae of the posterior leaflet. Mitral valve reconstruction was followed by an unusual severe hemolytic anemia and acute secondary renal insufficiency. Valve replacement was therefore necessary. At present, the patient, whose karyotype is normal, is in NYHA functional class I.