Key result
Positive genotype in left ventricular non-compaction cardiomyopathy was associated with larger maximal left atrial volume (116.7 vs 66.6 ml) but not significantly worse survival (HR 1.982, p=0.282).
Why the study?
Data evaluating cardiac structure and function in patients with or without gene mutations were limited, prompting investigation of genotype-CMR phenotype correlations and prognosis in LVNC.
Does positive genotype or the presence of multiple gene variants correlate with worse CMR phenotypes and long-term outcomes in patients with left ventricular non-compaction cardiomyopathy?
Cohort (n=28)
No
Does positive genotype or the presence of multiple gene variants correlate with worse CMR phenotypes and long-term outcomes in patients with left ventricular non-compaction cardiomyopathy?
Effect estimate: HR 1.982 (95% CI 0.570-6.887)
p-value: p=0.282
In patients with left ventricular non-compaction cardiomyopathy, positive genotype and multiple gene variants are associated with worse CMR phenotypes, such as larger LA volume and lower LVEF, as well as poorer long-term survival.
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.
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Zhou et al. (2021) conducted a cohort in Left ventricular non-compaction cardiomyopathy (n=28). Positive genotype vs. Negative genotype was evaluated on Composite of all-cause death and heart transplantation (HR 1.982, 95% CI 0.570-6.887, p=0.282). Positive genotype in left ventricular non-compaction cardiomyopathy was associated with larger maximal left atrial volume (116.7 vs 66.6 ml) but not significantly worse survival (HR 1.982, p=0.282).
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