Sinus of Valsalva Aneurysm in a Patient With Mosaic Trisomy 13: Case Report and Brief Review of the Literature

Abstract

<jats:p> 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. </jats:p>

A Six-Year-Old Child With Mosaic Trisomy 13

“…Most of the patients with trisomy 13 die before completing the first year of life and only 5%-10% can survive beyond the first year. In contrast to complete trisomy 13, patients with mosaic trisomy 13 present with fewer and milder anomalies and may survive to late childhood and adulthood [7]. The diagnosis in this case report was made through chromosomal analysis of cultured peripheral blood sample, and it revealed a mosaic result.…”

A Case of Trisomy 13 Mosaicism With Aortic Root Dilatation

“…Mosaicism was also present in the first reported case of aortic dilatation in trisomy 13 mosaicism. Ghawi et al 7 presented a 16-year-old male patient with trisomy 13 mosaicism with no previous cardiac history who had a new murmur, hypertension, and congestive heart failure. The management included initial stabilization on the night of admission with a diuretic and an antihypertensive agent, along with surgical intervention.…”

“…The management included initial stabilization on the night of admission with a diuretic and an antihypertensive agent, along with surgical intervention. 7 …”

Young adolescent with trisomy 13

“…Ghawi et al reported a patient in adolescence with trisomy 13 and SVA rupture, in whom no cardiac anomalies were found in the neonatal period. SVA is associated with other CHD,16 18 most commonly VSD (44.2%) and aortic regurgitation (43.3%) 16 18 19. Detailed echocardiography is an accurate method for diagnosing SVA 16 20 21.…”