Coexistence of Congenital Left Ventricular Aneurysm and Prominent Left Ventricular Trabeculation in a Patient with LDB3 Mutation: a Case Report

Overview

Journal J Med Case Rep

Publisher Biomed Central

Specialty General Medicine

Date 2017 Aug 20

PMID 28821295

Citations 9

Authors

Shengshuai Shan

Xiaoxiao He

Lin He

Min Wang

Chengyun Liu

Affiliations

Soon will be listed here.

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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