Partial Anomalous Left Pulmonary Artery

Collins, R. Thomas; Weinberg, Paul M.; Goldmuntz, Elizabeth; Harris, Matthew A.

doi:10.1161/circulationaha.108.835942

Cited by 14 publications

(10 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The atrial arrangement frequently follows that of the bronchial tree [13]. Two patients with KS were diagnosed with an anomalous course of the left pulmonary artery whereas a morphological alteration of the bronchial disposition was not investigated [17,18]. Left isomerism may be associated with malrotation of abdominal viscera, polysplenia and congenital heart disease [16].…”

Section: Discussionmentioning

confidence: 99%

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2gene

et al. 2014

View full text Add to dashboard Cite

BackgroundKabuki syndrome (KS) is a rare, multiple congenital anomalies/intellectual disability syndrome caused by mutations of MLL2 gene, which codifies for a histone methyltrasferase that regulates the embryogenesis and the tissue development. Left-bronchial isomerism is a rare congenital abnormality that can be defined as the absence of the normal lateralizing features which distinguish right and left-sides in the lungs. To date, this is the first report of left-bronchial isomerism in association with KS.Case presentationA one-month-old Caucasian male patient underwent our attention for microcephaly, dysmorphic features (long palpebral fissures, eyebrows with sparse lateral third, everted lower eyelids, blue sclerae, large dysplastic ears, lower lip pits), persistent fetal fingertip pads, short stature, heart defects (interventricular defect and aortic coarctation), unilateral cryptorchidism, hypotonia and delay in gross motor skills. These features suggested a diagnosis of KS and a molecular analysis confirmed a novel frame-shift mutation in the exon 11 of MLL2 gene. Subsequently, given recurrent respiratory infections with a normal immunological status, he underwent a chest CT scan that showed a left bronchial isomerism.ConclusionWe report a patient affected by KS, with a novel MLL2 mutation and an atypical phenotype characterized by left-side bronchial isomerism. Interestingly, genes involved in the heterotaxia/isomerism such as ROCK2 and SHROOM3 are known to interact with MLL2 gene. In order to achieve a correct diagnosis and an appropriate therapy, the presence of pulmonary anatomical variations should be investigated in KS patients with respiratory signs not associated to immunological deficiency. Finally, our findings support the hypothesis that the mutations leading to a complete loss of function of MLL2 gene is often associated with complex visceral malformations.

show abstract

Section: Discussionmentioning

confidence: 99%

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2gene

et al. 2014

View full text Add to dashboard Cite

show abstract

“…11 There are few case reports of partial anomalous LPA, 10-14 one of which is in the setting of Kabuki syndrome and an atrial septal defect. 14 In this case, the baby presented with fetal coarctation. Borderline left ventricle grew appropriately postnatally.…”

Section: Discussionmentioning

confidence: 87%

“…While this entity has unlikely hemodynamic impact, there is a potential for a partial or complete vascular ring/sling being formed by this anomalous left lower pulmonary artery branch depending on its course and orientation to the airway 11 . There are few case reports of partial anomalous LPA, 10–14 one of which is in the setting of Kabuki syndrome and an atrial septal defect 14 …”

Section: Discussionmentioning

confidence: 99%

Partial Anomalous Left Pulmonary Artery along with Aortic Coarctation in an Infant with Kabuki Syndrome

2012

View full text Add to dashboard Cite

We report an antenatally diagnosed fetal coarctation delivered prematurely and confirmed to have coarctation as well as additional nonobstructing anomalous left pulmonary artery branch (aLPA) from right pulmonary artery (RPA) and significant dysmorphic features. The baby underwent an uncomplicated arch repair, but had numerous multisystem and growth related issues prompting a diagnosis of Kabuki syndrome (KS) at 1 year of age. While coarctation and hypoplastic left heart syndrome are observed in this syndrome, this is the second reported case of aLPA in KS and the first with the forme fruste of left-sided obstruction as well as aLPA in this group of patients.

show abstract

“…8 Partial anomalous origin of the left pulmonary artery and Kabuki syndrome in association is very rare, and to our knowledge there are only two cases reported in the literature so far. 9,10 In both the previously reported cases, in the setting of Kabuki syndrome, the aberrant left pulmonary artery did not contribute to cause a complete pulmonary sling, as its course was anterior to the trachea.…”

Section: P Ulmonary Artery Sling Is a Malformationmentioning

confidence: 78%

Duplicated left pulmonary artery: an unknown disease? Three case reports and review of the literature

et al. 2015

View full text Add to dashboard Cite

We report three cases of an abnormal finding of duplicated left pulmonary artery: two of these occurring in children with Kabuki syndrome and configuring the setting of a pseudo-pulmonary sling without any clinical or cardiac cross-sectional evidence of tracheal compression. The other case instead represents duplicated left pulmonary artery with pulmonary sling caused by the retro-tracheal course of the lower left pulmonary artery associated with "Christmas Tree" arrangement of the tracheo-bronchial system. In both patients with pseudo-pulmonary sling and Kabuki syndrome, the abnormal finding was incidental during echocardiographic examination and neither of the patients required surgical repair for the condition. To the best of our knowledge, they represent the third and fourth cases in which such an anomaly of the pulmonary artery branches not forming a sling is seen in association with Kabuki syndrome. Another case represents our second experience and the second case reported in literature with duplicated left pulmonary artery in the setting of a complex tracheal anatomy. In this symptomatic patient, surgical repair of atrial septal defect and relief of the vascular ring were indicated, and the surgical repair was performed successfully at the age of 3 years.

show abstract

Partial Anomalous Left Pulmonary Artery

Cited by 14 publications

References 16 publications

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2gene

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2gene

Partial Anomalous Left Pulmonary Artery along with Aortic Coarctation in an Infant with Kabuki Syndrome

Duplicated left pulmonary artery: an unknown disease? Three case reports and review of the literature

Contact Info

Product

Resources

About