{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T16:15:34Z","timestamp":1790525734231,"version":"4.1.0"},"reference-count":12,"publisher":"American Academy of Pediatrics (AAP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2001,12,1]]},"abstract":"<jats:p>Objective. Cardiovascular anomalies are present in 75% to 80% of patients with a chromosome 22q11 deletion. In the majority of cases, the cardiovascular defect becomes evident in the neonatal period and is often the initial manifestation of the chromosome 22q11 deletion syndrome. However, a 22q11 deletion may also be associated with cardiovascular defects that are less obvious, such as a vascular ring, which may not be diagnosed until the patient is older. The objective of this study was to determine the frequency and types of cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age.<\/jats:p>\n               <jats:p>Methods. We studied 29 patients diagnosed with a chromosome 22q11 deletion at a median age of 6.2 years (9 months to 45 years) who were subsequently referred for cardiovascular evaluation. Comprehensive cardiologic evaluation was performed, with transthoracic echocardiography (N = 28) and\/or magnetic resonance imaging (N = 6), including imaging of the aortic arch. The frequency of cardiovascular anomalies diagnosed in these patients and the need for intervention were assessed.<\/jats:p>\n               <jats:p>Results. Cardiovascular anomalies were detected in 11 (38%) patients: 3 with a vascular ring formed by a right aortic arch with an aberrant left subclavian artery and left-sided ligamentum arteriosum, 3 with a right aortic arch with mirror-image branching of the brachiocephalic arteries (no vascular ring; 1 with a patent ductus arteriosus), 4 with a left aortic arch with an aberrant right subclavian artery (no vascular ring; 1 with a patent ductus), and 1 with a left superior vena cava draining to the coronary sinus. The median age at diagnosis in these 11 patients was 3 years (9 months to 28 years). The remaining 18 patients had normal cardiovascular anatomy. All 3 patients with vascular rings subsequently underwent surgical repair, and 1 patient with a ductus arteriosus underwent transcatheter coil occlusion.<\/jats:p>\n               <jats:p>Conclusions. The frequency of cardiovascular anomalies necessitating intervention in patients referred for cardiovascular evaluation after diagnosis of a chromosome 22q11 deletion beyond 6 months of age is 14% in our experience. Routine screening for cardiovascular anomalies, including echocardiography and other imaging studies to identify the laterality and branching pattern of the aortic arch, is indicated in patients diagnosed with 22q11 deletion beyond 6 months of age and is particularly critical for patients with respiratory or feeding disorders.<\/jats:p>","DOI":"10.1542\/peds.108.6.e104","type":"journal-article","created":{"date-parts":[[2004,8,13]],"date-time":"2004-08-13T23:55:51Z","timestamp":1092441351000},"page":"e104-e104","source":"Crossref","is-referenced-by-count":58,"title":["Cardiovascular Anomalies in Patients Diagnosed With a Chromosome 22q11 Deletion Beyond 6 Months of Age"],"prefix":"10.1542","volume":"108","author":[{"given":"Doff B.","family":"McElhinney","sequence":"first","affiliation":[{"name":"Division of Cardiology, Children\u2019s Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna","family":"McDonald-McGinn","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Children\u2019s Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Children\u2019s Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Goldmuntz","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Children\u2019s Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2001,12,1]]},"reference":[{"key":"2021121003500895800_R1","doi-asserted-by":"crossref","unstructured":"McDonald-McGinn DM, LaRossa D, Goldmuntz E, et al. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Testing.1997;1:99\u2013108","DOI":"10.1089\/gte.1997.1.99"},{"key":"2021121003500895800_R2","doi-asserted-by":"crossref","unstructured":"Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet.1997;34:798\u2013804","DOI":"10.1136\/jmg.34.10.798"},{"key":"2021121003500895800_R3","doi-asserted-by":"crossref","unstructured":"McElhinney DB, Clark BJ, Weinberg PM, et al. Chromosome 22q11 deletions in patients with isolated anomalies of aortic arch sidedness or branching. J Am Coll Cardiol.2001;37:2114\u20132119","DOI":"10.1016\/S0735-1097(01)01286-4"},{"key":"2021121003500895800_R4","doi-asserted-by":"crossref","unstructured":"Goldmuntz E, Clark BJ, Mitchell LE, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol.1998;32:492\u2013498","DOI":"10.1016\/S0735-1097(98)00259-9"},{"key":"2021121003500895800_R5","doi-asserted-by":"crossref","unstructured":"Gerlis LM. Covert congenital cardiovascular malformations discovered in an autopsy series of nearly 5000 cases. Cardiovasc Pathol.1996;5:11\u201319","DOI":"10.1016\/1054-8807(95)00035-6"},{"key":"2021121003500895800_R6","doi-asserted-by":"crossref","unstructured":"Molz G, Burri B. Aberrant subclavian artery (arteria lusoria): sex differences in the prevalence of various forms of arch malformations. Evaluation of 1378 observations. Virchows Arch Pathol Anat Histol.1978;380:303\u2013315","DOI":"10.1007\/BF00431315"},{"key":"2021121003500895800_R7","doi-asserted-by":"crossref","unstructured":"Stone WM, Brewster DC, Moncure AC, Franklin DP, Cambria RP, Abbott WM. Aberrant right subclavian artery: varied presentations and management options. J Vasc Surg.1990;11:812\u2013817","DOI":"10.1067\/mva.1990.20386"},{"key":"2021121003500895800_R8","doi-asserted-by":"crossref","unstructured":"Janssen M, Baggen MGA, Veen HF, et al. Dysphagia lusoria: clinical aspects, manometric findings, diagnosis, and therapy. Am J Gastroenterol.2000;95:1411\u20131416","DOI":"10.1111\/j.1572-0241.2000.02071.x"},{"key":"2021121003500895800_R9","doi-asserted-by":"crossref","unstructured":"Kieffer E, Bahnini A, Koskas F. Aberrant subclavian artery: surgical treatment in thirty-three adult patients. J Vasc Surg.1994;19:100\u2013111","DOI":"10.1016\/S0741-5214(94)70125-3"},{"key":"2021121003500895800_R10","doi-asserted-by":"crossref","unstructured":"Alcocer JJ, Spier L, Dyke CM, Griffith BP, Gammie JS. Traumatic rupture of an aberrant right subclavian artery. Ann Thorac Surg.2000;69:621\u2013623","DOI":"10.1016\/S0003-4975(99)01368-5"},{"key":"2021121003500895800_R11","doi-asserted-by":"crossref","unstructured":"Avisse C, Marcus C, Delattre JF, et al. Right nonrecurrent inferior laryngeal nerve and arteria lusoria: the diagnostic and therapeutic implications of an anatomic anomaly. Review of 17 cases. Surg Radiol Anat.1998;20:227\u2013232","DOI":"10.1007\/s00276-998-0227-7"},{"key":"2021121003500895800_R12","doi-asserted-by":"crossref","unstructured":"Parker JM, Cary-Freitas B, Berg BW. Symptomatic vascular rings in adulthood: an uncommon mimic of asthma. J Asthma.2000;37:275\u2013280","DOI":"10.3109\/02770900009055450"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/108\/6\/e104\/1113204\/pe120100e104.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/108\/6\/e104\/1113204\/pe120100e104.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,10]],"date-time":"2021-12-10T11:07:51Z","timestamp":1639134471000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/108\/6\/e104\/63631\/Cardiovascular-Anomalies-in-Patients-Diagnosed"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,12,1]]},"references-count":12,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2001,12,1]]},"published-print":{"date-parts":[[2001,12,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.108.6.e104","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,12,1]]}}}