Aortic root dilation in patients with 22q11.2 deletion syndrome

Abstract

The 22q11.2 deletion syndrome is characterized by a highly variable phenotype including a range of cardiac malformations. The most common cardiovascular features include a subset of conotruncal defects, perimembranous ventricular septal defects and aortic arch anomalies. This report describes a series of patients with 22q11.2 deletion syndrome with the novel cardiac finding of mild aortic root dilation. A chart review was performed on 93 patients with documented 22q11.2 deletion without significant congenital heart disease to determine the number of patients with aortic root dilation. Patients ranged in age from 1 to 13 years of age. Of these 93 patients, 10 patients were found to have aortic root dilation on a screening echocardiogram. Seven of these patients did not have any additional risk factors while three patients had a bicuspid aortic valve (BAV). Four of 10 patients had additional minor cardiac anomalies including repaired ventricular septal defect (1), patent ductus arteriosus(1), arch anomalies (1), and left pulmonary artery stenosis (1). Three patients had isolated cases of aortic root dilation. Interestingly, several of these patients did not have aortic root dilation on their initial echocardiograms. The purpose of this study is to draw attention to a novel cardiac finding in patients with 22q11.2 deletion that may be of clinical importance. Further long-term study is warranted to assess the need for echocardiographic screening in the 22q11.2 deleted population for aortic root dilation into adolescence and adulthood.

Aortic dilation in pediatric patients

“…Aortic dilation (AoD) leading to aortic dissection has been associated with several syndromic connective tissue disorders such as Marfan syndrome (MFS; MIM154700), Loeys-Dietz syndrome (LDS; 609192), and Ehlers-Danlos syndrome (EDS) type IV (MIM 130050), among others [6][7][8]22].…”

Wilms tumor in a patient with 22q11.2 microdeletion

“…This malformation, paired with initial feeding difficulties suggestive of velo-palatal-insufficiency (VPI) and speech delay increased the clinical suspicion for 22q11.2 deletion syndrome. The cardiac investigation revealed a mildly dilated aortic root that has been reported in association with 22q11.2 deletion [John et al, 2009]. The speech delay was the only developmental problem.…”

Aortic dilation, genetic testing, and associated diagnoses

“…In this population some of the diagnoses included major aneuploidies that should be easily [6][7][8][18][19][20][21][22][23][24][25] In many cases, in spite of lacking further supporting clinical evidence of a direct link between AoD and the genes involved in the remaining patients with cytogenetic abnormalities, other potential candidate genes with relationships to cardiac morphogenesis or pathology were identified ( Table 3). [26][27][28][29][30][31][32][33][34][35] We also were able to identify other less common genetic conditions in this population.…”

“…Chromosomal syndromes such as Turner syndrome and 22q11.2 deletion syndrome have been independently identified to be risk factors for AoD, apart from the presence of bicuspid aortic valve (BAV) or other CHDs known to be associated with de novo or postsurgical AoD and aortic dissection (i.e., conotruncal defects or ventricular septal defects). [6][7][8] Patients with Noonan syndrome seem to be at a higher risk for annular AoD and aortic root aneurysms, whereas cases of thoracic aortic dissection have been reported in association with autosomal dominant polycystic kidney disease. 5,9 Sinus of Valsalva aneurysms have also been described in patients with Klippel-Feil syndrome, cutis laxa, and Treacher-Collins syndrome.…”