The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2

Abstract

The UCD community has made this article openly available. Please share how this access benefits you. Your story matters! (@ucd_oa) Some rights reserved. For more information, please see the item record link above. TitleThe role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2 Author(s)Cuturilo, Goran; Drakulic, Danijela; Krstic, Aleksandar; et al. Abstract Malposition of the branch pulmonary arteries is a rare malformation with two forms. In the typical form, pulmonary arteries cross each other as they proceed to their respective lungs. The ''lesser form'' is characterised by the left pulmonary artery ostium lying directly superior to the ostium of the right pulmonary artery, without crossing of the branch pulmonary arteries. Malposition of the branch pulmonary arteries is often associated with other congenital heart defects and extracardiac anomalies, as well as with 22q11.2 microdeletion. We report three infants with crossed pulmonary arteries and one adolescent with ''lesser form'' of the malformation. The results suggest that diagnosis of malposition of the branch pulmonary arteries could be challenging if based solely on echocardiography, whereas modern imaging technologies such as contrast computed tomography and magnetic resonance angiography provide reliable establishment of diagnosis. In addition, we performed the first molecular characterisation of the 22q11.2 region among patients with malposition of the branch pulmonary arteries and revealed a 3-megabase deletion in two out of four patients.

Evaluation of malposition of the branch pulmonary arteries using cardiovascular computed tomography angiography

“…Our study is the largest series of MBPA imaged by CCTA, which showed a hospital-based prevalence of 0.33 % among 4,546 patients with congenital heart disease and 0.06 % among 23,229 patients receiving either CCTA or contrast-enhanced CT. Our study also found that the classic type was about two times more common than the lesser type. Only 15 % (7/46) of the previously reported patients were lesser type of MBPA [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17]. Our study reports the first experience with diagnosing lesser type MBPA using CCTA, and a higher percentage (33 %, 5/15) of patients were identified as lesser type from our database alone.…”

“…Since the first report of the classic type by Jue et al, in 1966 [2] and the lesser type by Beck et al, in 1970 [1], MBPA remained a rare congenital anomaly (46 cases in a total with seven cases of lesser type) [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17]; hence, its prevalence, or the percentage of patients with classic or lesser types, cannot be easily estimated. Our study is the largest series of MBPA imaged by CCTA, which showed a hospital-based prevalence of 0.33 % among 4,546 patients with congenital heart disease and 0.06 % among 23,229 patients receiving either CCTA or contrast-enhanced CT. Our study also found that the classic type was about two times more common than the lesser type.…”

“…Most of the lesser type of MBPA reported in the literature were associated with complex congenital heart defects such as TOF, PAPVC, PS or cor triatriatum [7,17], while five out of the seven reported patients (71 %) in the literature have coexisting anomalies of aortic arch, such as interrupted aortic arch, right-sided aortic arch, aberrant left subclavian artery associated with other malformations [7,17]. In this study, we found similar results in which 60 % of the lesser type MBPA patients are associated with complex congenital cardiovascular abnormalities, and also 60 % (3/5) of the patients with lesser type were associated with aortic arch anomalies.…”

“…Several diagnostic modalities have been reported to diagnose MBPA, including echocardiography, cardiovascular magnetic resonance imaging (CMR) and catheter cardiovascular angiography [3,[7][8][9][10][11][12][13][14]. Echocardiography is the primary method used to diagnose MBPA with the advantage of clinical availability, noninvasive, nonradiation, and high temporal resolution [3,13,17].…”

“…Recognition of MBPA is very important because it is often associated with other cardiovascular anomalies [1,[3][4][5][6]. To the best of our knowledge, only 46 cases had been presented to date in the English medical literature [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17]. They are predominantly in individual case reports with echocardiography as the main diagnostic imaging modality.…”