A Rare Case of Ascending Aortic Aneurysm in a Pediatric Patient: Analysis and Management of One Patient with Cowden Syndrome

P0020 

Abstract Submission 

Stevan Martins (1), Frederico Carlos Cordeiro de Mendonça (1), Daniel Ortuno (1), Flavia Miasuguku Samos (2), Maria Elisa Albrecht (2), Paul Alejandro Salvador Morales (3), Lucio Walfrido Aleixo da Silveira (4)

(1) Sirius Cardiovascular, São Paulo, Brazil, (2) Hospital São Luiz Jabaquara, São Paulo, Brazil, (3) Hospital Sao Luiz Jabaquara, São Paulo, Brazil, (4) Hospital Sao Luiz Jabaquara, Sao Paulo, Brazil

Stevan Martins    -  Contact Me
Sirius Cardiovascular

Frederico Carlos Cordeiro de Mendonça    -  Contact Me
Sirius Cardiovascular

Daniel Ortuno    -  Contact Me
Sirius Cardiovascular

Flavia Miasuguku Samos    -  Contact Me
Hospital São Luiz Jabaquara

Maria Elisa Albrecht    -  Contact Me
Hospital São Luiz Jabaquara

Paul Alejandro Salvador Morales    -  Contact Me
Hospital Sao Luiz Jabaquara

Lucio Walfrido Aleixo da Silveira    -  Contact Me
Hospital Sao Luiz Jabaquara

Stevan Martins    -  Contact Me
Hcor-SP

Objective: This case report details the diagnosis, management, and outcome of a rare case of ascending aortic aneurysm in a pediatric patient. Ascending aortic aneurysms are uncommon in children, such diagnosis and treatment pose unique challenges compared to adults.

Methods: One male child at 2 year of age presented with shortness of breath and failure to thrive. Due to severe aortic regurgitation and signs of heart failure, the patient was admitted to pediatric intensive care unit.
Further investigation revealed a large aneurysm of the aortic root and ascending aorta and the aortic valve was deemed tri-valvular at initial evaluation.
Despite maximal medical treatment, it was not possible to compensate the patient and surgical intervention was recommended. Complete correction was undertaken performing a Bentall-de Bonno operation. It was implanted a biological pericardial prostheses INSPIRIS number 23 (Edwards LifeSciences), mounted on a 30 mm dacron graft. The procedure was uneventful, and the patient was extubated the following day.
On post operative day 4 it was done a surgical re-exploration due to cardiac tamponade. No further complications occurred and the patient was discharged home on post operative day 14. Late follow-up at 6 months shows good surgical result.

Results / conclusions: Biopsy of the aorta revealed Cowden Syndrome, which is a mutation on the PTEN gene (phosphatase and tensin homologue).
Although PTEN mutations are related to vascular anomalies, we were unable to locate literature that correlates this finding with aneurysm of the aorta. Due to the limited number of cases, it is not possible to draw more accurate conclusions about such genetic disorder. In this particular case it was possible to implant an adult-size prostheses to ensure adequate growth to the patient. In a future intervention we expect to replace the biological valve for a mechanical one.

Genetics of Aortic Disease