CMR Characteristics, gene variants and long-term outcome in patients with left ventricular non-compaction cardiomyopathy
Abstract Background As the paucity of data focusing on evaluating cardiac structure and function in patients with or without gene mutation, this study was sought to investigate the correlation between genotype and cardiac magnetic resonance (CMR) phenotype in patients with left ventricular non-compa...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2021-12-01
|
| Series: | Insights into Imaging |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13244-021-01130-2 |
| _version_ | 1818461618558730240 |
|---|---|
| author | Di Zhou Shijie Li Arlene Sirajuddin Weichun Wu Jinghan Huang Xiaoxin Sun Shihua Zhao Jielin Pu Minjie Lu |
| author_facet | Di Zhou Shijie Li Arlene Sirajuddin Weichun Wu Jinghan Huang Xiaoxin Sun Shihua Zhao Jielin Pu Minjie Lu |
| author_sort | Di Zhou |
| collection | DOAJ |
| description | Abstract Background As the paucity of data focusing on evaluating cardiac structure and function in patients with or without gene mutation, this study was sought to investigate the correlation between genotype and cardiac magnetic resonance (CMR) phenotype in patients with left ventricular non-compaction cardiomyopathy (LVNC) and to explore prognostic relevance in this cohort if possible. Methods Patients with LVNC who underwent CMR and targeted gene sequencing between 2006 and 2016 were retrospectively evaluated. Demographic data, clinical presentation, genetic analysis, CMR data and follow-up data of all participants were collected. Results Compared to negative genotype (G−) group, patients with positive genotype (G+) had larger left atrial volume (LAV), and carriers of multiple variants had lower left ventricular (LV) ejection fraction and cardiac index, increased LV fibrosis, larger LA volume, reduced LV global circumferential strain, LA reservoir strain and booster pump strain (all p < 0.05). LA volume was able to discriminate patients with G + (all p < 0.05), as well as those with multiple genetic mutation (all p < 0.01). During a median follow-up of 5.1 years, Kaplan–Meier survival analysis revealed worse primary endpoint-free survival among carriers of multiple variants compared to G− group. Conclusions CMR feature tracking is a remarkable tool to evaluate implication, genetics cascade screen and predict outcome in LVNC population. LA volume is a sensitive and robust indicator for genetic mutational condition, of which facilities to guide clinical management and intensity of follow-up for patients and their relatives. |
| first_indexed | 2024-12-14T23:49:00Z |
| format | Article |
| id | doaj.art-30c89a6371254466a2b04eca9e7a9247 |
| institution | Directory Open Access Journal |
| issn | 1869-4101 |
| language | English |
| last_indexed | 2024-12-14T23:49:00Z |
| publishDate | 2021-12-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Insights into Imaging |
| spelling | doaj.art-30c89a6371254466a2b04eca9e7a92472022-12-21T22:43:18ZengSpringerOpenInsights into Imaging1869-41012021-12-0112111110.1186/s13244-021-01130-2CMR Characteristics, gene variants and long-term outcome in patients with left ventricular non-compaction cardiomyopathyDi Zhou0Shijie Li1Arlene Sirajuddin2Weichun Wu3Jinghan Huang4Xiaoxin Sun5Shihua Zhao6Jielin Pu7Minjie Lu8Department of Magnetic Resonance Imaging, Fuwai Hospital and National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical CollegeDepartment of Geriatrics, Beijing Friendship Hospital, Capital Medical UniversityNational Heart, Lung and Blood Institute (NHLBI), National, Institutes of Health (NIH)Department of Echocardiography, Fuwai Hospital and National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical CollegeThe Heart-Lung Testing Center, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical CollegeKey Laboratory of Cardiovascular Imaging (Cultivation), Chinese Academy of Medical SciencesDepartment of Magnetic Resonance Imaging, Fuwai Hospital and National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical CollegeDepartment of Magnetic Resonance Imaging, Fuwai Hospital and National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical CollegeDepartment of Magnetic Resonance Imaging, Fuwai Hospital and National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical CollegeAbstract Background As the paucity of data focusing on evaluating cardiac structure and function in patients with or without gene mutation, this study was sought to investigate the correlation between genotype and cardiac magnetic resonance (CMR) phenotype in patients with left ventricular non-compaction cardiomyopathy (LVNC) and to explore prognostic relevance in this cohort if possible. Methods Patients with LVNC who underwent CMR and targeted gene sequencing between 2006 and 2016 were retrospectively evaluated. Demographic data, clinical presentation, genetic analysis, CMR data and follow-up data of all participants were collected. Results Compared to negative genotype (G−) group, patients with positive genotype (G+) had larger left atrial volume (LAV), and carriers of multiple variants had lower left ventricular (LV) ejection fraction and cardiac index, increased LV fibrosis, larger LA volume, reduced LV global circumferential strain, LA reservoir strain and booster pump strain (all p < 0.05). LA volume was able to discriminate patients with G + (all p < 0.05), as well as those with multiple genetic mutation (all p < 0.01). During a median follow-up of 5.1 years, Kaplan–Meier survival analysis revealed worse primary endpoint-free survival among carriers of multiple variants compared to G− group. Conclusions CMR feature tracking is a remarkable tool to evaluate implication, genetics cascade screen and predict outcome in LVNC population. LA volume is a sensitive and robust indicator for genetic mutational condition, of which facilities to guide clinical management and intensity of follow-up for patients and their relatives.https://doi.org/10.1186/s13244-021-01130-2Left ventricular non-compactionCardiomyopathyGeneticsCardiac magnetic resonance |
| spellingShingle | Di Zhou Shijie Li Arlene Sirajuddin Weichun Wu Jinghan Huang Xiaoxin Sun Shihua Zhao Jielin Pu Minjie Lu CMR Characteristics, gene variants and long-term outcome in patients with left ventricular non-compaction cardiomyopathy Insights into Imaging Left ventricular non-compaction Cardiomyopathy Genetics Cardiac magnetic resonance |
| title | CMR Characteristics, gene variants and long-term outcome in patients with left ventricular non-compaction cardiomyopathy |
| title_full | CMR Characteristics, gene variants and long-term outcome in patients with left ventricular non-compaction cardiomyopathy |
| title_fullStr | CMR Characteristics, gene variants and long-term outcome in patients with left ventricular non-compaction cardiomyopathy |
| title_full_unstemmed | CMR Characteristics, gene variants and long-term outcome in patients with left ventricular non-compaction cardiomyopathy |
| title_short | CMR Characteristics, gene variants and long-term outcome in patients with left ventricular non-compaction cardiomyopathy |
| title_sort | cmr characteristics gene variants and long term outcome in patients with left ventricular non compaction cardiomyopathy |
| topic | Left ventricular non-compaction Cardiomyopathy Genetics Cardiac magnetic resonance |
| url | https://doi.org/10.1186/s13244-021-01130-2 |
| work_keys_str_mv | AT dizhou cmrcharacteristicsgenevariantsandlongtermoutcomeinpatientswithleftventricularnoncompactioncardiomyopathy AT shijieli cmrcharacteristicsgenevariantsandlongtermoutcomeinpatientswithleftventricularnoncompactioncardiomyopathy AT arlenesirajuddin cmrcharacteristicsgenevariantsandlongtermoutcomeinpatientswithleftventricularnoncompactioncardiomyopathy AT weichunwu cmrcharacteristicsgenevariantsandlongtermoutcomeinpatientswithleftventricularnoncompactioncardiomyopathy AT jinghanhuang cmrcharacteristicsgenevariantsandlongtermoutcomeinpatientswithleftventricularnoncompactioncardiomyopathy AT xiaoxinsun cmrcharacteristicsgenevariantsandlongtermoutcomeinpatientswithleftventricularnoncompactioncardiomyopathy AT shihuazhao cmrcharacteristicsgenevariantsandlongtermoutcomeinpatientswithleftventricularnoncompactioncardiomyopathy AT jielinpu cmrcharacteristicsgenevariantsandlongtermoutcomeinpatientswithleftventricularnoncompactioncardiomyopathy AT minjielu cmrcharacteristicsgenevariantsandlongtermoutcomeinpatientswithleftventricularnoncompactioncardiomyopathy |