Abstract
Background Sinus of Valsalva aneurysm (SOVA) is a rare anomaly of the aorta that can be congenital or acquired. It can be associated with syndromes such as Marfan syndrome and Ehlers-Danlos syndrome. However, to our knowledge, it has never been described in a patient with Apert syndrome. Although it often presents as an incidental finding on imaging, SOVA is associated with the risk of serious complications, including rupture. A possible connection between the conditions might be the FGFR2 gene mutation in Apert syndrome and the influence of a mutation in fibroblast growth factor 2 (FGF2) on heart development. Here we report a case of acute heart failure secondary to rupture of SOVA into the right atrium in a patient with Apert syndrome. Case presentation A 47-year-old Caucasian woman with a history of Apert syndrome and rheumatoid arthritis presented with shortness of breath, orthopnea, paroxysmal nocturnal dyspnea, and progressive bilateral lower extremity edema for 2 weeks. She was diagnosed with acute right heart failure due to ruptured SOVA. The patient underwent surgical repair of the ruptured SOVA. Unfortunately, her postoperative course was complicated by a stroke leading to brain death. Conclusion Ruptured SOVA is a quite rare but serious condition that can cause life-threatening complications. In this case, SOVA occurred in a patient with Apert syndrome. The case may suggest that these two conditions may be related through the FGFR2 gene mutation associated with Apert syndrome and the related growth factor FGF2 involved in heart development.
Recommended Citation
Aldabain, Louay; Haddaden, Metri; Bandaru, Sumanth; Camire, Lyn; and Weisman, David S.
(2022)
"Ruptured Sinus of Valsalva Aneurysm in Apert Syndrome: Case Report,"
Journal of Community Hospital Internal Medicine Perspectives: Vol. 12:
Iss.
1, Article 14.
DOI: 10.55729/2000-9666.1013
Available at:
https://scholarlycommons.gbmc.org/jchimp/vol12/iss1/14
