Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes-A report of 74 cases with systematic review of the literature.
22q11.2 deletion syndrome
congenital heart disease
crossed pulmonary arteries
genetic syndrome
pulmonary artery abnormalities
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
08 2022
08 2022
Historique:
revised:
29
03
2022
received:
30
01
2021
accepted:
09
04
2022
pubmed:
3
5
2022
medline:
15
7
2022
entrez:
2
5
2022
Statut:
ppublish
Résumé
Crossed pulmonary arteries (CPAs) represent an uncommon anatomic variant, usually associated with some specific syndromes and conotruncal defects. This finding has been described in 22q11.2 Deletion Syndrome (22q11.2DS). We evaluated the correlation between CPAs and genetic diseases, in order to better define the characteristics of this variant, considered a rare anatomic pattern. An in-depth analysis of CPAs genotype-phenotype correlations was performed via a literature review. We detected 74 CPAs patients through echocardiography. Of these 74 patients, 35.1% of patients showed additional intracardiac malformations, while 29.7% showed extracardiac vascular anomalies, of which 16.2% were associated with intracardiac defects and 13.5% were not. In all, 62.2% of patients were diagnosed with genetic diseases and 52.2% of them were 22q11.2DS patients. In conclusions, CPAs represent a cardiovascular variant, which is detectable in nonsyndromic individuals, but especially in various genetic syndromes and in particular in 22q11.2DS patients. Data on the real prevalence of this morphology is lacking in literature. Knowledge of this anatomic variant is useful to interpret the unusual course of the pulmonary branches and is helpful information before cardiovascular surgical correction. Moreover, due to the strong association of CPAs with some genetic syndromes, the identification of this anatomic pattern can indicate the utility of a genetic assessment of these patients.
Identifiants
pubmed: 35491976
doi: 10.1002/ajmg.a.62763
doi:
Types de publication
Journal Article
Review
Research Support, Non-U.S. Gov't
Systematic Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
2351-2359Informations de copyright
© 2022 Wiley Periodicals LLC.
Références
Aggarwal, V., Imamura, M., Acuna, C., & Cabrera, A. G. (2017). Chromosome 22q11 deletion in a patient with pulmonary atresia, intact ventricular septum, and confluent branch pulmonary arteries. Cardiology in the Young, 13, 1-4. https://doi.org/10.1017/S104795111700227X
Altun, G., Babaoglu, K., Oguz, D., & Donmez, M. (2013). Crossed pulmonary arteries associated with persistent truncus arteriosus and right aortic arch on the three-dimensional computed tomographic imaging. Anadolu Kardiyol Dergisi/The Anatolian Journal of Cardiology, 13, E29. https://doi.org/10.5152/akd.2013.164
Babaoğlu, K., Altun, G., Binnetoğlu, K., Dönmez, M., Kayabey, Ö., & Anık, Y. (2013). Crossed pulmonary arteries: A report on 20 cases with an emphasis on the clinical features and the genetic and cardiac abnormalities. Pediatric Cardiology, 34, 1785-1790. https://doi.org/10.1007/s00246-013-0714-4
Becker, A. E., Becker, M. J., & Edwards, J. E. (1970). Malposition of pulmonary arteries (crossed pulmonary arteries) in persistent truncus arteriosus. The American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine, 110, 509-514. https://doi.org/10.2214/ajr.110.3.509
Bremer, J. L. (1909). II. On the origin of the pulmonary arteries in mammals. The Anatomical Record, 3, 334-340. https://doi.org/10.1002/ar.1090030603
Calcagni, G., Unolt, M., Digilio, M. C., Baban, A., Versacci, P., Tartaglia, M., Baldini, A., & Marino, B. (2017). Congenital heart disease and genetic syndromes: New insights into molecular mechanisms. Expert Review of Molecular Diagnostics, 17(9), 861-870. https://doi.org/10.1080/14737159.2017.1360766
Chen, B., Hsieh, H., Chiu, I., & Chen, S. W. M. (2008). Crossed pulmonary arteries: Report of two cases with emphasis on three-dimensional helical computed tomographic imaging. Journal of the Formosan Medical Association, 107, 265-269. https://doi.org/10.1016/S0929-6646(08)60146-1
Cirillo, A., Lioncino, M., Maratea, A., Passariello, A., Fusco, A., Fratta, F., Monda, E., Caiazza, M., Signore, G., Esposito, A., Baban, A., Versacci, P., Putotto, C., Marino, B., Pignata, C., Cirillo, E., Giardino, G., Sarubbi, B., Limongelli, G., & Russo, M. G. (2022). Clinical manifestations of 22q11.2 deletion syndrome. Heart Failure Clinics, 18(1), 155-164. https://doi.org/10.1016/j.hfc.2021.07.009
Cuturilo, G., Drakulic, D., Krstic, A., Gradinac, M., Ilisic, T., Parezanovic, V., Milivojevic, M., Stevanovic, M., & Jovanovic, I. (2012). The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2. Cardiology in the Young, 23, 181-188. https://doi.org/10.1017/S1047951112000571
El Batti, S., Ben Abdallah, I., Julia, P., Alsac, J. M., & Vouhé, P. (2018). Crossed pulmonary arteries as additional cause of dysphagia in association with right aortic arch and Kommerell diverticulum. Surgical and Radiologic Anatomy, 40, 1165-1168.
Fu, F., Yang, J., Zhang, J., & Feng, Y. (2016). Crossed pulmonary arteries associated with single atrium in an adult: A case report. BMC Cardiovascular Disorders, 16, 172. https://doi.org/10.1186/s12872-016-0354-8
Galinanes, M., Stanley, P., Guérin, R., Kratz, C., & Chartrand, C. (1993). Pulmonary banding complicated by low origin of right pulmonary artery. Texas Hear Institute Journal, 20, 238-240.
Hernandez, L. E., Anderson, R. H., Hoggard, E., St. Louis, J. D., & Shepard, C. W. (2015). Crossed pulmonary arteries with hypoplasia of the transverse aortic arch. Cardiology in the Young, 25, 718-724. https://doi.org/10.1017/S1047951114000791
Jue, K. L., Lockman, L. A., & Edwards, J. E. (1966). Anomalous origins of pulmonary arteries from pulmonary trunk (“crossed pulmonary arteries”): Observation in case with 18 trisomy syndrome. American Heart Journal, 71, 807-812. https://doi.org/10.1016/0002-8703(66)90603-X
Kamath, B. M., Baker, A., Houwen, R., Todorova, L., & Kerkar, N. (2018). Systematic review: The epidemiology, natural history, and burden of Alagille syndrome. Journal of Pediatric Gastroenterology and Nutrition, 67(2), 148-156. https://doi.org/10.1097/MPG.0000000000001958
Koca, B., Oztunç, F., & Yalçın, Y. (2011). Crossed pulmonary arteries in conjunction with tetralogy of Fallot. Türk Kardiyoloji Derneği Arşivi, 39, 499-500. https://doi.org/10.5543/tkda.2011.01491
Lai, W. W., Geva, T., Shirali, G. S., Pignatelli, R. H., Rychik, J., Committee, W., et al. (2006). Guidelines and Standards for Performance of a Pediatric Echocardiogram: A Report from the Task Force of the Pediatric Council of the American Society of Echocardiography. Journal of the American Society of Echocardiography., 10029, 1413-1430. https://doi.org/10.1016/j.echo.2006.09.001
Maldjian, P., & Sanders, A. (2018). 22q11 deletion syndrome with vascular anomalies. Journal of Clinical Imaging Science, 8, 1. https://doi.org/10.4103/jcis.JCIS_66_17
Marino, B., Digilio, M. C., Toscano, A., Giannotti, A., & Dallapiccola, B. (1999). Congenital heart defects in patients with DiGeorge/velocardiofacial syndrome and del22q11. Genetic Counseling, 10, 25-33.
Mastromoro, G., Calcagni, G., Versacci, P., Putotto, C., Chinali, M., Lambiase, C., Unolt, M., Pelliccione, E., Anaclerio, S., Caprio, C., Cioffi, S., Bilio, M., Baban, A., Drago, F., Digilio, M. C., Marino, B., & Baldini, A. (2019). Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice. PLoS One, 14, e0211170. https://doi.org/10.1371/journal.pone.0211170
Moher, D., Liberati, A., Tetzlaff, J., Altman, D. G., & PRISMA Group. (2009). Preferred reporting items for systematic reviews and meta-analyses: The PRISMA statement. PLoS Medicine, 6, e1000097. https://doi.org/10.1371/journal.pmed.1000097
Momma, K., Kondo, C., Matsuoka, R., & Takao, A. (1996). Cardiac anomalies associated with a chromosome 22q11 deletion in patients with conotruncal anomaly face syndrome. The American Journal of Cardiology, 78, 591-594. https://doi.org/10.1016/s0002-9149(96)00374-8
Pfefferkorn, J. R., Löser, H., Pech, G., Toussaint, R., & Hilgenberg, F. (1982). Absent pulmonary artery. A hint to its embryogenesis. Pediatric Cardiology, 3, 283-286. https://doi.org/10.1007/BF02427028
Raza, R., Khandwala, K., Qayyum, H., Saeed, M. A., & Ahmed, A. (2018). A variant of crossed pulmonary arteries in association with coarctation of aorta. Cureus, 10, e2477. https://doi.org/10.7759/cureus.2477
Recto, M. R., Parness, I. A., Gelb, B. D., Lopez, L., & Lai, W. W. (1997). Clinical implications and possible association of malposition of the branch pulmonary arteries with DiGeorge syndrome and microdeletion of chromosomal region 22q11. The American Journal of Cardiology, 80(12), 1624-1627. https://doi.org/10.1016/s0002-9149(97)00782-0
Romano, R., Cirillo, E., Giardino, G., Gallo, V., Mollica, C., & Pignata, C. (2016). A Bronchovascular anomaly in a patient with 22q11.2 deletion syndrome. Journal of Investigational Allergology & Clinical Immunology, 26, 390-392. https://doi.org/10.18176/jiaci.0107
Sadler, T. W. (2016). Langman's medical embriology. Masson.
Shelton, G., & Burggren, W. (1976). Cardiovascular dynamics of the chelonia during apnoea and lung ventilation. The Journal of Experimental Biology, 64, 323-343.
Siwik, E. S., Everman, D., & Morrison, S. (2002). Images in cardiology: Crossed pulmonary arteries, ventricular septal defect, and chromosome 22q11 deletion. Heart, 88, 88. https://doi.org/10.1136/heart.88.1.88
Talwar, S., Rajashekar, P., Gupta, S. K., Gulati, G. S., & Airan, B. (2016). Crossed pulmonary arteries in a patient with persistent truncus arteriosus. The Annals of Thoracic Surgery, 101, 2377-2379. https://doi.org/10.1016/j.athoracsur.2015.07.069
Wang, P., Yuan, L., Shi, J., & Xu, Z. (2017). Isolated unilateral absence of pulmonary artery in adulthood: A clinical analysis of 65 cases from a case series and systematic review. Journal of Thoracic Disease, 92, 4988-4996. https://doi.org/10.21037/jtd.2017.11.49
Zaqout, M., Alhallaq, M. O., & De Wolf, D. (2014). Crossed pulmonary arteries with double aortic arch: A rare association. Cardiology in the Young, 24, 723-724. https://doi.org/10.1017/S1047951114000602