title: Sinus of Valsalva Aneurysm in a Patient With Mosaic Trisomy 13: Case Report and Brief Review of the Literature.
abstract: This report describes a unique case involving an obese 16-year-old boy with a mosaic form of trisomy 13 and no previous cardiac history who presented with a new murmur, hypertension, pleural effusions, and congestive heart failure in the context of sore throat and fever. Evaluation revealed a diagnosis of ruptured noncoronary sinus of Valsalva (SOV) aneurysm. The diagnosis and surgical management of a ruptured noncoronary SOV aneurysm in a pediatric patient are briefly outlined. An SOV aneurysm is an anatomic dilation of one of the sinuses of the aortic root. Aneurysmal dilation occurs more commonly in the right aortic sinus (70%-80%), compared to the noncoronary sinus (23%-25%), and more rarely the left coronary sinus (5%). Rupture of these aneurysms has been reported to be both spontaneous and secondary to physical exertion, hypertension, or trauma. Signs of rupture include a continuous murmur, patients may present with chest pain or with symptoms of acute congestive heart failure. Diagnosis, in this case, was made by transthoracic echocardiography with careful interpretation of color Doppler images.
authors.affiliation: Sidra Medical and Research Center, Ad Dawhah, Doha, Qatar.
authors.forename: Hani
authors.initials: H
authors.lastname: Ghawi
authors.affiliation: Children's Health Children's Medical Center Dallas, Dallas, TX, USA.|UT Southwestern Medical Center, Dallas, TX, USA.
authors.forename: Kevin
authors.initials: K
authors.lastname: Engelhardt
authors.affiliation: Children's Health Children's Medical Center Dallas, Dallas, TX, USA.
authors.forename: Keith
authors.initials: K
authors.lastname: Dixon
authors.affiliation: Children's Health Children's Medical Center Dallas, Dallas, TX, USA.|UT Southwestern Medical Center, Dallas, TX, USA.
authors.forename: Poonum
authors.initials: P
authors.lastname: Thankaval
authors.affiliation: Children's Health Children's Medical Center Dallas, Dallas, TX, USA.|UT Southwestern Medical Center, Dallas, TX, USA.
authors.forename: Claudio
authors.initials: C
authors.lastname: Ramaciotti
authors.affiliation: Children's Health Children's Medical Center Dallas, Dallas, TX, USA.|UT Southwestern Medical Center, Dallas, TX, USA.
authors.forename: Matthew S
authors.initials: MS
authors.lastname: Lemler
authors.affiliation: Children's Health Children's Medical Center Dallas, Dallas, TX, USA.|UT Southwestern Medical Center, Dallas, TX, USA.
authors.forename: Kristine J
authors.initials: KJ
authors.lastname: Guleserian
mesh_terms: D000293:Adolescent; D001013:Aorta, Thoracic / Q000000981:diagnostic imaging / Q000601:surgery*; D001014:Aortic Aneurysm / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D001019:Aortic Rupture / Q000150:complications / Q000175:diagnosis / Q000601:surgery*; D015150:Echocardiography, Doppler; D006801:Humans; D008297:Male; D009765:Obesity / Q000150:complications; D012850:Sinus of Valsalva / Q000000981:diagnostic imaging* / Q000601:surgery; D000073839:Trisomy 13 Syndrome / Q000150:complications / Q000235:genetics*; D014656:Vascular Surgical Procedures / Q000379:methods*
keywords: echocardiography; pediatric; sinus of Valsalva aneurysm—rupture