Dataset Information

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-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.

SUBMITTER: Zhou D

PROVIDER: S-EPMC8665949 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature

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Publications

CMR Characteristics, gene variants and long-term outcome in patients with left ventricular non-compaction cardiomyopathy.

Zhou Di D Li Shijie S Sirajuddin Arlene A Wu Weichun W Huang Jinghan J Sun Xiaoxin X Zhao Shihua S Pu Jielin J Lu Minjie M

Insights into imaging 20211211 1

<h4>Background</h4>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.<h4>Methods</h4>Patients with LVNC who underwent CMR and targeted gene sequencing between 2006 and 2016 were r ...[more]

PMID: 34894296

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Project description:AimsLeft ventricular non-compaction cardiomyopathy (LVNC) is a poorly understood entity resulting in heart failure. Whether it is a distinct form of cardiomyopathy or an anatomical phenotype is a subject of discussion. The current diagnosis is based on morphologic findings by comparing the compacted to non-compacted myocardium. The study aimed to compare demographic and prognostic variables of patients with dilated cardiomyopathy (DCM) and LVNC. Emphasis was given to cardiac magnetic resonance (CMR) imaging analysis. Data on survival were also assessed.Methods and resultsWe retrospectively evaluated the characteristics and outcomes of 262 non-ischaemic cardiomyopathy patients with LVNC and DCM phenotypes. Petersen's CMR criteria of non-compacted to the compacted myocardial ratio 2.3 were used to diagnose LVNC. The primary endpoint was a composite endpoint of major adverse cardiovascular events comprising cardiovascular-related death, left ventricular assisted device implantation, or heart transplantation. A total of 262 patients with CMR data were included in the study. One hundred fifty-five patients who fulfilled CMR criteria were diagnosed as LVNC. CMR findings revealed that LVNC patients had higher left ventricular end-diastolic (137.2 ± 51.6, 116.8 ± 44.6, P = 0.002) and systolic volume index (98.4 ± 49.5, 85.9 ± 42.7, P = 0.049). Cardiac haemodynamics, cardiac output (5.61 ± 2.03, 4.96 ± 1.83; P = 0.010), stroke volume (73.9 ± 28.8, 65.1 ± 25.1; P = 0.013), and cardiac index (2.85 ± 1.0, 2.37 ± 0.72; P < 0.0001), were higher in LVNC patients. Of all the 249 patients, 102 (40.9%) patients demonstrated late gadolinium enhancement (LGE). According to Petersen's criteria, the Kaplan-Meier survival outcome did not reveal significant differences (hazard ratio [HR]: 1.53, 95% confidence interval [CI]: [0.89-2.63], P = 0.11). The presence or pattern of LGE did not show significant importance for endpoint-free survival. Most of the sub-epicardial LGE pattern was found in LVNC patients (94.4%). When receiver operator characteristics analysis was applied to NC/C ratio to discriminate the primary endpoint, a higher NC/C ratio of 2.57 was associated with adverse events (HR: 1.90, 95% CI: [1.12-3.24], P = 0.016).ConclusionsOur study questions the criteria being used for the diagnosis of LVNC. Further evaluation of CMR variables and association of these findings with demographic variables and survival is mandatory.

Dataset Information

CMR Characteristics, gene variants and long-term outcome in patients with left ventricular non-compaction cardiomyopathy.

Background

Methods

Results

Conclusions

Publications

CMR Characteristics, gene variants and long-term outcome in patients with left ventricular non-compaction cardiomyopathy.

Similar Datasets

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