Abstract
Case Presentation: A 45-year-old man with history of Type I osteogenesis imperfecta (OI) presented with severe shortness of breath and worsening bilateral lower extremity edema for 6 weeks. Paternal family history was significant for Type I OI with early deaths in affected females. Physical examination revealed a distressed man with blue - gray sclerae and jugular venous distention. Cardiopulmonary examination was remarkable for tachycardia, grade IV holosystolic murmur radiating to the axilla, bilateral lung crackles with decreased air entry on the lower lung fields and pitting pedal edema up to mid thighs. TTE and TEE were significant for severe eccentric posterior MR with multiple vegetations versus ruptured chordae and normal systolic function. He underwent an emergency mitral valve replacement complicated by post-operative severe AR requiring redo sternotomy with aortic valve replacement. Histologically, aortic valve leaflets were suggestive of chronic endocarditis with dual negative sets of blood cultures drawn since admission. He was eventually discharged home after an intense cardiac rehabilitation with appropriate follow ups. Discussion: OI is a rare hereditary connective tissue disorder affecting the production of Type I collagen due to mutations in COL1A1 and COL1A2 genes. Although lesser known, OI valvulopathy is typically limited to the left sided structures, for unknown reasons, with the most common valvular anomaly being AR followed by MR. Despite the dramatic cardiac involvement in our patient and known mortality risk associated with surgical intervention, prompt evaluation and early intervention led to a successful outcome.
Published Version
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