HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Abstract Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Personal Folders Download to citation manager Author home page(s): Thomas L. Spray Permission Requests Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Johnson, M. C. Articles by Spray, T. L. Search for Related Content PubMed PubMed Citation Articles by Johnson, M. C. Articles by Spray, T. L. Related Collections Related Article

Ann Thorac Surg 1995;60:681-682
© 1995 The Society of Thoracic Surgeons

---

Case Report

Anomalous Origin of the Right Pulmonary Artery From the Aorta and CATCH 22 Syndrome

Division of Cardiology, Edward Mallinckrodt Department of Pediatrics, Division of Cardiothoracic Surgery, Department of Surgery, and James S. McDonnell Department of Genetics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri

Accepted for publication February 14, 1995.

	Abstract

Top Footnotes Abstract Introduction Comment References

 
We report repair of anomalous origin of the right pulmonary artery from the ascending aorta in a premature neonate with a deletion in the CATCH 22 region of chromosome 22. This case suggests that the pathogenesis of anomalous origin of the right pulmonary artery involves genetically determined abnormalities of the neural crest. Repair of this defect in a premature infant can prevent the development of severe pulmonary vascular disease.

	Introduction

Top Footnotes Abstract Introduction Comment References

 
See also page 682.

Recent molecular evidence of microdeletions within chromosome 22 in the majority of patients with DiGeorge and velocardiofacial (Shprintzen) syndromes led to the proposal [1] that these syndromes represent phenotypic variants of CATCH 22 syndrome (cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia with deletion on chromosome 22). Anomalous origin of the right pulmonary artery from the ascending aorta is an uncommon congenital malformation with a 70% mortality at 1 year of age without repair [2]. The absence of anomalous origin of the right pulmonary artery in clinical studies of DiGeorge syndrome prompted Kutsche and Van Mierop [3] to speculate that this defect arises from an embryological mechanism distinct from conotruncal defects [3]. In this report, the developmental mechanism of anomalous origin of the right pulmonary artery is illuminated by the occurrence of this congenital defect in a patient with clinical features of CATCH 22 and deletion in the q11.2 critical region of chromosome 22, as proven by fluorescent in situ hybridization.

A 1.6-kg, 34-week-gestation infant presented with an enlarged cardiac silhouette on chest roentgenogram and cardiac murmur. An echocardiogram revealed an anomalous vessel originating from the ascending aorta. Angiography at 4 days of age demonstrated origin of the right pulmonary artery from the proximal posterior aspect of the ascending aorta, left aortic arch with normal branching, take-off of the left pulmonary artery from the main pulmonary artery, secundum atrial septal defect, and large patent ductus arteriosus. Dysmorphic features included hypertelorism, prominent long nose, mild micrognathia, bifid uvula, and long fingers. Because of congestive heart failure and to prevent pulmonary vascular disease, operation was performed at 11 days of age. Repair included anastomosis of the right pulmonary artery to the main pulmonary artery with pericardial patch augmentation, closure of the atrial septal defect, and division of the ductus. Although no thymus was identified at operation, absolute lymphocyte count, lymphocyte subpopulations, and lymphocyte stimulation tests were all normal. Transiently low ionized serum calcium levels were observed in the first postoperative week.

A right pulmonary artery arterioplasty with bovine pericardial tissue was performed at 4 months of age because of stenosis with a 70 mm Hg gradient between the main pulmonary artery and the right pulmonary artery. At 4 years of age a lung scan and catheterization demonstrated residual proximal right pulmonary artery stenosis with a 22 mm Hg gradient, severe right upper lobe pulmonary artery stenosis, and mild residual pulmonary hypertension in the left lung (Table 1). Balloon angioplasty of the right upper lobe branch pulmonary artery resulted in improved distal flow based on repeat main pulmonary artery angiography. During follow-up, other medical conditions commonly associated with CATCH 22 syndrome were identified including sensorineural hearing loss, severe expressive speech delay, mild motor delay, and velopharyngeal insufficiency.

	Comment

Top Footnotes Abstract Introduction Comment References

 
Conotruncal cardiac defects and aortic arch anomalies are commonly seen with CATCH 22 [3–5]. The occurrence of anomalous origin of the right pulmonary artery in a patient with CATCH 22 syndrome is not surprising in view of the association of this congenital defect with other conotruncal defects and aortic arch anomalies [2]. Furthermore, other isolated aortic arch defects such as aberrant right subclavian artery [1] and coarctation of the aorta [6] have been reported in CATCH 22 syndrome. Identification of patients with CATCH 22 syndrome can facilitate the management of associated conditions such as hypocalcemia, growth failure, and developmental delay [1].

The long-held belief that the cause of the vast majority of congenital heart defects is multifactorial [7] is not supported by the increasing clinical recognition of the CATCH 22 syndrome. This case broadens the phenotypic spectrum associated with the CATCH 22 deletion and supports the idea that the pathogenesis of anomalous origin of the right pulmonary artery may be genetic in origin. One or more genes in the region of the CATCH 22 deletion are hypothesized to affect development of the neural crest. Indeed, cardiac defects commonly seen in CATCH 22 syndrome occur in chick embryos after ablation of portions of the neural crest [8].

This case shows that early repair of anomalous origin of the right pulmonary artery to avoid severe pulmonary vascular changes can be performed successfully in the premature infant. The persistence of mildly elevated pulmonary resistance in the left lung is probably secondary to increased flow to an immature lung before revision at 4 months of age.

	Footnotes

Top Footnotes Abstract Introduction Comment References

 
Address reprint requests to Dr Johnson, Division of Pediatric Cardiology, St. Louis Children's Hospital, One Children's Place, St. Louis, MO 63110.

	References

Top Footnotes Abstract Introduction Comment References

 

1. Wilson DI, Burn J, Scambler P, Goodship J. DiGeorge syndrome: part of CATCH 22. J Med Genet 1993;30:852–6.[Abstract/Free Full Text]
2. Fontana GP, Spach MS, Effmann EL, Sabiston DC. Origin of the right pulmonary artery from the ascending aorta. Ann Surg 1987;206:102–13.[Medline]
3. Kutsche LM, Van Mierop LHS. Anomalous origin of a pulmonary artery from the ascending aorta: associated anomalies and pathogenesis. Am J Cardiol 1988;61:850–6.[Medline]
4. Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ. Velo-cardio-facial syndrome: a review of 120 patients. Am J Med Genet 1993;45:313–9.[Medline]
5. Goldmuntz E, Driscoll D, Budarf ML, et al. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet 1993;30:807–12.[Abstract/Free Full Text]
6. Wilson DI, Cross IE, Goodship JA, et al. DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin. Br Heart J 1991;66:308–12.[Abstract/Free Full Text]
7. Nora JJ. Causes of congenital heart disease: old and new modes, mechanisms and models. Am Heart J 1993;125: 1409–18.[Medline]
8. Kirby ML, Waldo KL. Role of neural crest in congenital heart disease. Circulation 1990;82:332–40.[Free Full Text]

This article has been cited by other articles:

				E. Levy, E. Milgalter, A. Nir, and A. J. Rein Repair of Anomalous Pulmonary Artery with Interposition Graft: Midterm Results Asian Cardiovasc Thorac Ann, September 1, 2005; 13(3): 217 - 221. [Abstract] [Full Text] [PDF]

				E. Prifti, A. Crucean, M. Bonacchi, M. Bernabei, M. Leacche, B. Murzi, F. Bartolozzi, and V. Vanini Postoperative outcome in patients with anomalous origin of one pulmonary artery branch from the aorta Eur. J. Cardiothorac. Surg., July 1, 2003; 24(1): 21 - 27. [Abstract] [Full Text] [PDF]

This Article Abstract Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Personal Folders Download to citation manager Author home page(s): Thomas L. Spray Permission Requests Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Johnson, M. C. Articles by Spray, T. L. Search for Related Content PubMed PubMed Citation Articles by Johnson, M. C. Articles by Spray, T. L. Related Collections Related Article