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Journal of Medical Case Reports
Published in: Journal of Medical Case Reports 1/2017

Open Access 01-12-2017 | Case report

Coexistence of congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LDB3 mutation: a case report

Authors: Shengshuai Shan, Xiaoxiao He, Lin He, Min Wang, Chengyun Liu

Published in: Journal of Medical Case Reports | Issue 1/2017

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Abstract

Background

The coexistence of congenital left ventricular aneurysm and abnormal cardiac trabeculation with gene mutation has not been reported previously. Here, we report a case of coexisting congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LIM domain binding 3 gene mutation.

Case presentation

A 30-year-old Asian man showed paroxysmal sinus tachycardia and Q waves in an electrocardiogram health check. There were no specific findings in physical examinations and serological tests. A coronary-computed tomography angiography check showed normal coronary artery and no coronary stenosis. Both left ventricle contrast echocardiography and cardiac magnetic resonance showed rare patterns of a combination of an apical aneurysm-like out-pouching structure with a wide connection to the left ventricle and prominent left ventricular trabecular meshwork. High-throughput sequencing examinations showed a novel mutation in the LDB3 gene (c.C793>T; p.Arg265Cys).

Conclusions

Our finding indicates that the phenotypic expression of two heart conditions, congenital left ventricular aneurysm and prominent left ventricular trabeculation, although rare, can occur simultaneously with LDB3 gene mutation. Congenital left ventricular aneurysm and prominent left ventricular trabeculation may share the same genetic background.
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Metadata
Title
Coexistence of congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LDB3 mutation: a case report
Authors
Shengshuai Shan
Xiaoxiao He
Lin He
Min Wang
Chengyun Liu
Publication date
01-12-2017
Publisher
BioMed Central
Published in
Journal of Medical Case Reports / Issue 1/2017
Electronic ISSN: 1752-1947
DOI
https://doi.org/10.1186/s13256-017-1405-1

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