Persistent fifth aortic arch associated with 22q11.2 deletion syndrome.
BACKGROUND
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.


CONCLUSIONS
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.
Lee
Meng-Luen
ML
Division of Pediatric Cardiology, Department of Pediatrics, Changhua Christian Hospital, Changhua, Taiwan. ferdielee@yahoo.com
Chen
Hsiao-Neng
HN
Chen
Ming
M
Tsao
Lon-Yen
LY
Wang
Bao-Tyan
BT
Lee
Mei-Hui
MH
Chiu
Ing-Sh
IS
D001013:Aorta, Thoracic / Q000002:abnormalities*; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012189:Retrospective Studies; D013577:Syndrome