A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium?
Abstract Background Noncompaction of ventricular myocardium(NVM) is a rare kind of cardiomyopathy associated with genetic mutations and nongenetic factors, among which the isolated right ventricular noncompaction (iRVNC) is the most rare type. ACVRL1 is the pathogenic gene of type 2 hereditary hemor...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2023-04-01
|
| Series: | BMC Cardiovascular Disorders |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12872-023-03132-y |
| _version_ | 1827956971499683840 |
|---|---|
| author | Bo Yu Kun Shi Yang Wen Yanfeng Yang |
| author_facet | Bo Yu Kun Shi Yang Wen Yanfeng Yang |
| author_sort | Bo Yu |
| collection | DOAJ |
| description | Abstract Background Noncompaction of ventricular myocardium(NVM) is a rare kind of cardiomyopathy associated with genetic mutations and nongenetic factors, among which the isolated right ventricular noncompaction (iRVNC) is the most rare type. ACVRL1 is the pathogenic gene of type 2 hereditary hemorrhagic telangiectasia (HHT2), and there’s no NVM reported to be associated with ACVRL1 mutation. Case presentation This is a rare case diagnosed as iRVNC and pulmonary hypertention with ACVRL1 mutation detected. Conclusion iRVNC in this case may be due to ACVRL1 mutation, secondary to pulmonary hypertention and right ventricular failure caused by ACVRL1 mutation, or they happened in the same case coincidently. |
| first_indexed | 2024-04-09T15:12:52Z |
| format | Article |
| id | doaj.art-685cc6203b2e488ca5e9b7c871f52485 |
| institution | Directory Open Access Journal |
| issn | 1471-2261 |
| language | English |
| last_indexed | 2024-04-09T15:12:52Z |
| publishDate | 2023-04-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Cardiovascular Disorders |
| spelling | doaj.art-685cc6203b2e488ca5e9b7c871f524852023-04-30T11:06:43ZengBMCBMC Cardiovascular Disorders1471-22612023-04-012311710.1186/s12872-023-03132-yA case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium?Bo Yu0Kun Shi1Yang Wen2Yanfeng Yang3Chengdu Women’s and Children’s Central Hospital, School of Medicine, University of Electronic Science and Technology of ChinaChengdu Women’s and Children’s Central Hospital, School of Medicine, University of Electronic Science and Technology of ChinaChengdu Women’s and Children’s Central Hospital, School of Medicine, University of Electronic Science and Technology of ChinaChengdu Women’s and Children’s Central Hospital, School of Medicine, University of Electronic Science and Technology of ChinaAbstract Background Noncompaction of ventricular myocardium(NVM) is a rare kind of cardiomyopathy associated with genetic mutations and nongenetic factors, among which the isolated right ventricular noncompaction (iRVNC) is the most rare type. ACVRL1 is the pathogenic gene of type 2 hereditary hemorrhagic telangiectasia (HHT2), and there’s no NVM reported to be associated with ACVRL1 mutation. Case presentation This is a rare case diagnosed as iRVNC and pulmonary hypertention with ACVRL1 mutation detected. Conclusion iRVNC in this case may be due to ACVRL1 mutation, secondary to pulmonary hypertention and right ventricular failure caused by ACVRL1 mutation, or they happened in the same case coincidently.https://doi.org/10.1186/s12872-023-03132-yIsolated right ventricular noncompactionNoncompaction of ventricular myocardiumACVRL1, Case report |
| spellingShingle | Bo Yu Kun Shi Yang Wen Yanfeng Yang A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium? BMC Cardiovascular Disorders Isolated right ventricular noncompaction Noncompaction of ventricular myocardium ACVRL1, Case report |
| title | A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium? |
| title_full | A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium? |
| title_fullStr | A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium? |
| title_full_unstemmed | A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium? |
| title_short | A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium? |
| title_sort | case report of isolated right ventricular noncompaction with mutation of acvrl1 a new cause of noncompaction of ventricular myocardium |
| topic | Isolated right ventricular noncompaction Noncompaction of ventricular myocardium ACVRL1, Case report |
| url | https://doi.org/10.1186/s12872-023-03132-y |
| work_keys_str_mv | AT boyu acasereportofisolatedrightventricularnoncompactionwithmutationofacvrl1anewcauseofnoncompactionofventricularmyocardium AT kunshi acasereportofisolatedrightventricularnoncompactionwithmutationofacvrl1anewcauseofnoncompactionofventricularmyocardium AT yangwen acasereportofisolatedrightventricularnoncompactionwithmutationofacvrl1anewcauseofnoncompactionofventricularmyocardium AT yanfengyang acasereportofisolatedrightventricularnoncompactionwithmutationofacvrl1anewcauseofnoncompactionofventricularmyocardium AT boyu casereportofisolatedrightventricularnoncompactionwithmutationofacvrl1anewcauseofnoncompactionofventricularmyocardium AT kunshi casereportofisolatedrightventricularnoncompactionwithmutationofacvrl1anewcauseofnoncompactionofventricularmyocardium AT yangwen casereportofisolatedrightventricularnoncompactionwithmutationofacvrl1anewcauseofnoncompactionofventricularmyocardium AT yanfengyang casereportofisolatedrightventricularnoncompactionwithmutationofacvrl1anewcauseofnoncompactionofventricularmyocardium |