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(Circulation. 2002;106:e191.)
© 2002 American Heart Association, Inc.

Images in Cardiovascular Medicine

Unusual Form of Truncus Arteriosus Associated With 22q11 Deletion

Younes Boudjemline, MD; Jérome Le Bidois, MD; Gabriella Agnoletti, MD; Frank Iserin, MD; Daniel Sidi, MD; Damien Bonnet, MD

From the Service de Cardiologie Pédiatrique, Hôpital Necker-Enfants-Malades, Paris, France.

Correspondence to Y. Boudjemline, Service de Cardiologie Pédiatrique, Hôpital Necker-Enfants-Malades, 149 rue de Sèvres, 75743 Paris Cedex, France. E-mail younes.boudjemline{at}nck.ap-hop-paris.fr

A 25-year-old woman was referred at 31 weeks’ gestation for prenatal echocardiography because routine obstetrical sonography had detected a cardiac malformation. Pregnancy to that point had been normal. Four-chamber and great-vessel views allowed the diagnosis of truncus arteriosus with an abnormal dilatation of the pulmonary tree (Figure 1 and Movie I). An in situ hybridization study performed on amniocytes culture revealed a de novo 22q11 deletion. The pregnancy was uneventful, and the child was delivered naturally at 37 weeks’ gestation. On postnatal examination, the child carried typical features of DiGeorge syndrome, namely dysmorphia, severe hypocalcemia, and thymic hypoplasia. Echocardiography and angiography confirmed the diagnosis (Figure 2 and Movies II and III). The child died suddenly at two weeks of age, two days before the scheduled surgery. Death resulted from uncontrolled catheter-based sepsis. The parents refused the anatomo-pathological examination.

View larger version (151K): [in this window] [in a new window]   Figure 1. Truncus arteriosus, type A1, on prenatal echocardiography, equivalent to a four-chamber view. Note the truncus arteriosus above the ventricular septal defect (VSD) and the aneurysmal dilation of the pulmonary tree (PA) as compared with the relatively small aorta (Ao).

View larger version (166K): [in this window] [in a new window]   Figure 2. Truncal root injection after digital substraction. The truncal root gives rise to a dilated pulmonary trunk and to a normal aortic arch.

Footnotes

Movies I, II, and III are available in the online-only Data Supplement at http://www.circulationaha.org.

The editor of Images in Cardiovascular Medicine is Hugh A. McAllister, Jr, MD, Chief, Department of Pathology, St Luke’s Episcopal Hospital and Texas Heart Institute, and Clinical Professor of Pathology, University of Texas Medical School and Baylor College of Medicine.

Circulation encourages readers to submit cardiovascular images to the Circulation Editorial Office, St Luke’s Episcopal Hospital/Texas Heart Institute, 6720 Bertner Ave, MC1-267, Houston, TX 77030.

This Article Extract Full Text (PDF) Data Supplement Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Permissions Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Boudjemline, Y. Articles by Bonnet, D. Search for Related Content PubMed PubMed Citation Articles by Boudjemline, Y. Articles by Bonnet, D. Pubmed/NCBI databases Medline Plus Health Information Arteriovenous Malformations Genetics Home Reference Related Collections Other heart failure Cardiac development