Coexistence of congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LDB3 mutation: a case report
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...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2017-08-01
|
| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13256-017-1405-1 |
| _version_ | 1817977527598055424 |
|---|---|
| author | Shengshuai Shan Xiaoxiao He Lin He Min Wang Chengyun Liu |
| author_facet | Shengshuai Shan Xiaoxiao He Lin He Min Wang Chengyun Liu |
| author_sort | Shengshuai Shan |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T22:17:38Z |
| format | Article |
| id | doaj.art-a0faf8aab4344fc8ab8b4e05867ede41 |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-04-13T22:17:38Z |
| publishDate | 2017-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-a0faf8aab4344fc8ab8b4e05867ede412022-12-22T02:27:25ZengBMCJournal of Medical Case Reports1752-19472017-08-011111710.1186/s13256-017-1405-1Coexistence of congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LDB3 mutation: a case reportShengshuai Shan0Xiaoxiao He1Lin He2Min Wang3Chengyun Liu4Department of Geriatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Geriatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Ultrasound, Union Hospital, Tongji Medical College, Huazhong University of Science and TechnologyKey Laboratory of Molecular Targeted Therapies of the Ministry of Education, Institution of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Geriatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and TechnologyAbstract 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.http://link.springer.com/article/10.1186/s13256-017-1405-1Congenital left ventricular aneurysmTrabeculationLDB3Mutation |
| spellingShingle | Shengshuai Shan Xiaoxiao He Lin He Min Wang Chengyun Liu Coexistence of congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LDB3 mutation: a case report Journal of Medical Case Reports Congenital left ventricular aneurysm Trabeculation LDB3 Mutation |
| title | Coexistence of congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LDB3 mutation: a case report |
| title_full | Coexistence of congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LDB3 mutation: a case report |
| title_fullStr | Coexistence of congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LDB3 mutation: a case report |
| title_full_unstemmed | Coexistence of congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LDB3 mutation: a case report |
| title_short | Coexistence of congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LDB3 mutation: a case report |
| title_sort | coexistence of congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with ldb3 mutation a case report |
| topic | Congenital left ventricular aneurysm Trabeculation LDB3 Mutation |
| url | http://link.springer.com/article/10.1186/s13256-017-1405-1 |
| work_keys_str_mv | AT shengshuaishan coexistenceofcongenitalleftventricularaneurysmandprominentleftventriculartrabeculationinapatientwithldb3mutationacasereport AT xiaoxiaohe coexistenceofcongenitalleftventricularaneurysmandprominentleftventriculartrabeculationinapatientwithldb3mutationacasereport AT linhe coexistenceofcongenitalleftventricularaneurysmandprominentleftventriculartrabeculationinapatientwithldb3mutationacasereport AT minwang coexistenceofcongenitalleftventricularaneurysmandprominentleftventriculartrabeculationinapatientwithldb3mutationacasereport AT chengyunliu coexistenceofcongenitalleftventricularaneurysmandprominentleftventriculartrabeculationinapatientwithldb3mutationacasereport |