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Takayasu's disease, also known as pulseless disease or aortic arch syndrome, is a rare inflammation of the aorta and its branches, and sometimes the pulmonary arteries, which, according to studies, occurs most frequently in people from the Far East and Asian countries. In addition, its incidence is significantly higher in women, and the mean age of affected patients is 45.4 years [1]. The first official clinical case report of the disease by Shimizu and Sano appeared in 1951, while the name of the disease was proposed by Cassamise and Okuda in 1954 to honour the first clinician, Mikito Takayasu, who as early as 1908 presented a case of a young female patient with characteristic fundus lesions associated with pulse disturbances [2].

Chromosome 22q11.2 deletion is frequently associated with conotruncal malformations and aortic arch anomalies. This study investigated the association of chromosome 22q11.2 deletion with clinical manifestations in four pediatric patients with persistent fifth aortic arch. Methods: Four patients with persistent fifth aortic arch treated between July 1997 and June 2004 were included in this retrospective study. There were two girls and two boys, aged 2 days to 11.3 years, with persistent fifth aortic arch and cardiac conotruncal malformations. Chart recordings, plain chest films, two-dimensional and Doppler echocardiograms, cardiac catheterization with angiograms, surgical findings, and cytogenetic study were analyzed. Results: Clinically, all four patients had the cardinal phenotypic features of 22q11.2 deletion syndrome, including cardiovascular malformations (conotruncal malformations and aortic arch anomalies), abnormal facies, thymic hypoplasia, canopy anomaly of the palate (high-arched palate, rather than cleft palate), and hypocalcemia (or hypoparathyroidism). All four patients were confirmed to have chromosome 22q11.2 deletion. Conclusion: Congenital conotruncal malformations, including tetralogy of Fallot with pulmonary atresia or stenosis, and aortic arch anomalies including a persistent fifth aortic arch or a right aortic arch, should lead to suspicion of chromosome 22q11.2 deletion when manifested together with any one of the other four cardinal phenotypic features.