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  • Open Access


    2q37.3 Deletion with Complex Heart Defects Suggesting Interruption of Early Ventricular Looping

    Sanam Safi1,2, Takato Yamasaki1,3, David J. Glidden4, Stephen P. Sanders1,5, Chrystalle Katte Carreon1,6,*

    Congenital Heart Disease, Vol.17, No.2, pp. 141-146, 2022, DOI:10.32604/chd.2022.019743

    Abstract A maternally inherited 828 kb microdeletion of 2q37.3 manifested in a 3-week-old premature boy as left juxtaposition of the atrial appendages associated with tricuspid atresia, double outlet infundibulum, subvalvar pulmonary atresia, large secundum atrial septal defect, and right aortic arch with mirror-image branching, consistent with developmental arrest early in heart looping. To the best of our knowledge, no previous 2q37 deletion syndrome has been reported with such a severe cardiac dysmorphology. Hence, this case adds to the cardiac phenotypes identified in 2q37 deletion syndrome. More >

  • Open Access


    Isolation of the Left Subclavian Artery in D-Transposition of the Great Arteries with Right Aortic Arch

    Kotaro Hine*, Kohei Ogata, Keiko Saitou, Norio Mizukaki, Hiroko Arai, Hitoshi Yoda

    Congenital Heart Disease, Vol.16, No.4, pp. 369-371, 2021, DOI:10.32604/CHD.2021.014516

    Abstract Abnormal branching of the aorta associated with the right aortic arch (RAA) has been reported as isolation of left subclavian artery (ILSA), isolation of left common carotid artery, isolation of brachiocephalic artery. ILSA is a rare aortic branch anomaly that originates in the left subclavian artery from the pulmonary artery via ductus arteriosus. Several reports have described ILSA associated with 22q11.2 deletion syndrome and tetralogy of Fallot. Here, we present a very unusual case of RAA with ILSA associated with D-transposition of the great arteries and inferior vena cava interrupted with azygos continuation. More >

  • Open Access


    Right aortic arch with situs solitus frequently heralds a vascular ring

    William N. Evans1,2, Ruben J. Acherman1,2, Michael L. Ciccolo1,3, Sergio A. Carrillo1,3, Gary A. Mayman1,2, Carlos F. Luna1,2, Robert C. Rollins1,2, William J. Castillo1,2, Alvaro Galindo1,2, Abraham Rothman1,2, John A. Alexander1,2, Tina W. Kwan1,2, Humberto Restrepo1,2

    Congenital Heart Disease, Vol.12, No.5, pp. 583-587, 2017, DOI:10.1111/chd.12487

    Abstract Objective: We hypothesized that a right aortic arch in situs solitus, with or without an associated cardiovascular malformation, is often associated with a vascular ring.
    Methods: From those born in Southern Nevada between March 2012 and March 2017, we identified 50 (3.6 per 10,000 live births) with a right aortic arch and situs solitus. From the 50 patients, 6 did not meet inclusion criteria for further analysis.
    Results: Of the 44 remaining, 33 (75%) had a vascular ring. Of the 33 with a vascular ring, 26 (79%) occurred with an isolated right aortic arch, and 7 (21%) had More >

  • Open Access


    Right aortic arch with situs solitus

    William N. Evans1,2, Ruben J. Acherman1,2, Dean Berthoty3, Gary A. Mayman1,2, Michael L. Ciccolo1,4, Sergio A. Carrillo1,4, Humberto Restrepo1,2

    Congenital Heart Disease, Vol.13, No.4, pp. 624-627, 2018, DOI:10.1111/chd.12623

    Abstract Patients: We reviewed all patients evaluated at our center with situs solitus, levocardia, and a right aortic arch that were born between January 2000 and January 2018. Results: From our databases, we identified 204 patients. We excluded patients with a double aortic arch from analysis. Of the 204 patients, 103 (50%) were male. Of the 204 patients, 95 (47%) had an isolated right aortic arch. Of the 95 with an isolated right aortic arch, 4 (4%) had chromosome 22q11.2 deletion syndrome, and 89 (94%) had a vascular ring. Of the 204 patients, 109 (53%) had a… More >

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