Mitral Annulus Disjunction, Annuloaortic Ectasia, and Pseudoaneurysm of Aortomitral Interannular Fibrosa in a 2-Year-Old Child

• Published in: Journal of The Indian Academy of Echocardiography & Cardiovascular Imaging Vol. 7; no. 1; pp. 44 - 46
• Main Authors: Shukla, Madhu, Mohan, Jagdish Chander
• Format: Journal Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 01-01-2023
• Subjects: annuloaortic ectasia; interannular pseudoaneurysm; mitral annulus disjunction; myxomatous aortic valve
• ISSN: 2543-1463; 2543-1471
• DOI: 10.4103/jiae.jiae_60_22

Genetically determined deficiency of connective tissue predisposes to the prolapsed mitral valve and an abnormal fibrous annulus including mitral annulus disjunction and dehiscence of aortomitral annular fibrosa. In a more severe phenotype, there may be abnormal aortic tissue, leading to annuloaortic ectasia. This report describes a 2-year-old male child who presented with failure to thrive and was found to have Barlow's syndrome with bileaflet mitral valve prolapse and mitral annulus disjunction, annuloaortic ectasia, and a pseudoaneurysm of interannular fibrosa. The case is reported for its interesting unifying linkage among various defects.