Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case Report

Abstract

Sinus of Valsalva aneurysm (SVA) is defined as a weakness in the aortic valve wall, immediately above the attachments of each of the aortic cusps. This weakness can rupture and create an aortocardiac fistula. There are many congenital heart defects associated with chromosome 22q11 deletion, especially involving the aortic arch and its branches. SVA is not an anomaly usually associated with chromosome 22 deletion. We report the case of a 19-year-old female who presented to our institution with SVA rupture. She was subsequently diagnosed with chromosome 22q11 deletion syndrome. Despite dysmorphic facial features and a learning disability, our patient had not been diagnosed with the chromosome abnormality. SVA is a rare congenital heart defect and has only once previously been reported in a child with a chromosome 22q11 deletion. We report the first case where aneurysm rupture preceded the chromosomal findings. Chromosome 22q11 deletion could be missed due to either the unfamiliarity of physicians with the syndrome or the variability and subtlety of the phenotype. This was demonstrated by our patient who, at age 19 after presenting with an SVA rupture, prompted physicians to find an explanation for her coexisting dysmorphic features and her learning disability.

Congestive Heart Failure in an Adolescent With a Ruptured Sinus of Valsalva Aneurysm

“…7 To our knowledge, there have been only two previous case reports of SVA rupture associated with 22q11.2DS. 8 Unlike our index patient who was previously healthy, both patients who presented with SVA rupture had a classic DiGeorge syndrome phenotype. With reports of more uncommon etiologies of SVA, 9 a comprehensive genetic workup is warranted, even in patients with a normal phenotype, as they help stratify the risk of further cardiac and noncardiac manifestations of the underlying genetic syndrome.…”

Ruptured aneurysm of the right coronary sinus of Valsalva in a child with Down syndrome

“…Rupture of an aneurysm of sinus of Valsalva has been observed in Noonan syndrome, 22q11 microdeletion syndrome, and in tetralogy of Fallot 7 8 The occurrence of a ruptured aortic sinus aneurysm in tetralogy of Fallot, 22q11 microdeletion syndrome, and Down syndrome may be a reflection of a joint underlying connective tissue abnormality.…”

“…6 Rupture of an aneurysm of sinus of Valsalva has been observed in Noonan syndrome, 22q11 microdeletion syndrome, and in tetralogy of Fallot. 7,8 The occurrence of a ruptured aortic sinus aneurysm in tetralogy of Fallot, 22q11 microdeletion syndrome, and Down syndrome may be a reflection of a joint underlying connective tissue abnormality. Progressive aortic root and ascending aortic dilatation is typical for syndromes such as Marfan, Loeys-Dietz, Ehlers-Danlos, and Turner syndrome, 9 but may be found also in Noonan syndrome or chromosome 22q11 deletion syndrome.…”

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

“…5 Multiple etiologies for Valsalva aneurysms have been suggested and reported, most notably inflammatory processes and connective tissue disorders. Genetic syndromes, including 22q11.2 deletion, 6 Down syndrome, [7][8][9] Wildervanck syndrome, 10 and Noonan syndrome, 11,12 have also been reported. To our knowledge, our case report is the first to report an SOV aneurysm in a patient with trisomy 13.…”