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29 February 2020 : Case report  Saudi Arabia

Late Presentation of a Congenitally Corrected Transposition of Great Arteries and Hemodynamically Balanced Ventricles Associated with a Large Ventricular Septal Defect and Severe Pulmonary Stenosis: A Case Report and a Multi-Imaging Approach

Challenging differential diagnosis, Congenital defects / diseases

Khaled Elenizi12ABCDEFG*, Rasha Alharthi2ABCDEFG, Anthony Matta23ABCDEFG, Abdulrahman Aljuayli24ABCDEFG, Michel Galinier2ADG

DOI: 10.12659/AJCR.920822

Am J Case Rep 2020; 21:e920822


BACKGROUND: Congenitally corrected transposition of great arteries (ccTGA) represents a distinct rare group of congenital heart diseases. Survival of unoperated ccTGA in the presence of large ventricular septal defect (VSD) is exceptional. Furthermore, late presentation of such patients in the absence of severe pulmonary hypertension or severe systemic right ventricle dysfunction is unusual.

CASE REPORT: We report a rare late presentation of ccTGA associated with large VSD in the absence of severe pulmonary hypertension or systemic ventricle dysfunction. An associated severe pulmonary valve stenosis maintained a balanced and stable condition up to the fourth decade of life. The patient has also dextrocardia, which is an unusual association. The diagnosis was reached using multimodality imaging including transthoracic echocardiogram (TTE), transesophageal echography (TEE), cardiac magnetic resonance imaging (CMR), and cardiac computed tomography (cardiac CT).

CONCLUSIONS: The presence of pulmonary stenosis can provide a physiological protection that avoids unnecessary surgical correction of large VSD in ccTGA patients. However, such a decision should be made on an individual basis and following a careful anatomical and functional evaluation.

Keywords: Cardiac Electrophysiology, Congenital Abnormalities, Transposition of Great Vessels, Congenitally Corrected Transposition of the Great Arteries, Dextrocardia, Heart Septal Defects, Ventricular, Pulmonary Valve Stenosis

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923