{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T00:34:34Z","timestamp":1783470874992,"version":"3.55.0"},"reference-count":30,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,5,5]],"date-time":"2003-05-05T00:00:00Z","timestamp":1052092800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Approximately 70% of individuals with chromosome 22q11 deletion syndrome (22q11DS) have congenital heart defects. A host of other vascular problems in these patients, such as tortuous carotid arteries, Raynaud's phenomenon, unexplained hypotension, hypertension, and hypothermia, raise the possibility that there may be abnormal autonomic regulation of the vascular system. So far, however, there has been no formal report of autonomic dysfunction in patients with 22q11 deletion. We present two infants with 22q11DS, who had profound hypotension after uncomplicated surgeries for congenital heart disease. The hypotension was not responsive to vasopressor treatment (and extracorporeal membrane oxygenation in one infant) and resulted in death, due to multiorgan system failure. Obvious causes, such as poor cardiac contractility, prolonged circulatory arrest, neurological abnormality, sepsis and blood loss were excluded. On autopsy, no abnormalities were found that could explain the hypotension. We hypothesize that these infants died of severe hypotension due to abnormal vascular tone and that this is a variable feature in individuals with 22q11 deletion. The autonomic nervous system, which is responsible for the regulation of vasomotor tone, may be variably affected in 22q11DS. This could have implications for the surgical management of patients with 22q11DS. Further studies on this topic would establish or refute the association between 22q11DS and dysautonomia.\u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20219","type":"journal-article","created":{"date-parts":[[2003,8,22]],"date-time":"2003-08-22T14:11:08Z","timestamp":1061561468000},"page":"231-234","source":"Crossref","is-referenced-by-count":15,"title":["Vasomotor instability in neonates with chromosome 22q11 deletion syndrome"],"prefix":"10.1002","volume":"121A","author":[{"given":"Vandana","family":"Shashi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret N.","family":"Berry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael H.","family":"Hines","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,8,11]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.822"},{"key":"e_1_2_4_3_1","first-page":"514","volume-title":"Cardiac surgery of the neonate and infant","author":"Castaneda AR","year":"1994"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00202489"},{"key":"e_1_2_4_5_1","first-page":"924","article-title":"A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11","volume":"50","author":"Driscoll DA","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.813"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-012329860-7\/50028-3"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.807"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-4975(99)00061-2"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450306"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.82.2.332"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.77.2.211"},{"key":"e_1_2_4_13_1","first-page":"69","volume-title":"Essentials of human embryology","author":"Larsen WJ","year":"1997"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0012-1606(74)90291-7"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(97)00401-3"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/35065105"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000605)92:4<269::AID-AJMG9>3.0.CO;2-L"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530314"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050786"},{"key":"e_1_2_4_20_1","first-page":"11","article-title":"The Philadelphia story: The 22q11.2 deletion: Report on 250 patients","volume":"10","author":"McDonald\u2010McGinn DM","year":"1999","journal-title":"Genet Couns"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00247-1"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(97)00069-6"},{"key":"e_1_2_4_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980724)78:4<322::AID-AJMG4>3.0.CO;2-N"},{"key":"e_1_2_4_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-4975(00)01858-0"},{"key":"e_1_2_4_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)90734-K"},{"key":"e_1_2_4_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5223(96)70128-9"},{"key":"e_1_2_4_27_1","first-page":"56","article-title":"A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo\u2010cardio\u2010facial syndrome","volume":"15","author":"Shprintzen RJ","year":"1978","journal-title":"Cleft Palate J"},{"key":"e_1_2_4_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1010-7940(98)00184-5"},{"key":"e_1_2_4_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(86)90256-0"},{"key":"e_1_2_4_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)92107-Q"},{"key":"e_1_2_4_31_1","first-page":"A169","article-title":"Minimum prevalence of chromosome 22q11 deletions","volume":"55","author":"Wilson DI","year":"1994","journal-title":"Am J Hum Genet"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20219","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20219","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T19:05:45Z","timestamp":1700247945000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20219"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,8,11]]},"references-count":30,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,9]]}},"alternative-id":["10.1002\/ajmg.a.20219"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20219","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,8,11]]}}}