In primary cardiomyopathy, specific gene mutations correlate with distinct LGE patterns: FLNC/PKP2 and DSP with sub-epicardial LGE, TTN/LMNA with mid-wall LGE.
Do specific genetic mutations correlate with distinct late gadolinium enhancement patterns on CMR in patients with primary cardiomyopathy?
Specific genetic mutations in primary cardiomyopathy correlate with distinct late gadolinium enhancement patterns on cardiac magnetic resonance imaging.
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Abstract Introduction Late gadolinium enhancement (LGE) is commonly observed in primary cardiomyopathy. However, limited data exist regarding its prevalence and distribution in relation to specific genes. This study aimed to assess the genotype-phenotype correlations with LGE patterns in primary cardiomyopathy. Methods This is a single-centre study of consecutive patients with dilated cardiomyopathy (DCM) and non-dilated left ventricular cardiomyopathy who are followed in our centre (at least yearly) undergoing cardiac magnetic resonance (CMR) plus DCM-related genes testing. Baseline clinical, laboratory, ECG and CMR data were systematically collected. Patients were categorized into 3 groups based on genetics: pathogenic/likely pathogenic variants (P/LPV), variants of uncertain significance (VUS) and negative test (NT). Results Overall, 119 patients 71% female, 51±16 years, 85% with dilated left ventricle (LV), LV ejection fraction (LVEF) 34% were included. Genetic testing revealed potential causative variants in DCM-related genes in 89 (75%) patients, of whom 46 were identified with a P/LPV and 43 with a VUS. The most common P/LPV were LMNA (20%), PKP2 (17%), FLNC (13%) and TTN (11%). Compared with patients with VUS or a NT, patients with P/LPV were younger (45 vs. 53 vs. 59 years for P/LPV, VUS and NT, respectively; p0.001), and presented with lower NT-proBNP (186 vs. 225 vs. 459pg/mL, respectively; p=0.003) and higher LVEF (41 vs. 32 vs. 34%; p=0.036). Figure 1 illustrates the distribution of patients according to the LGE patterns, categorized by genes (P/LPV+VUS and P/LPV). No differences were found in the prevalence, extensiveness and pattern of LGE between genetic groups. Patients with PV/LPV in FLNC/PKP2 genes more often had a sub-epicardial pattern (p=0.018), while TTN/LMNA had numerically more patients with mid-mural LGE when compared to VUS and NT (82 vs. 44%; p=0.124). Those with P/LPV in DSP more often had a sub-epicardial pattern (100 vs. 33%, p=0.009) and "ring-like" LGE (100 vs. 17%, p0.001), while TTN patients showed lower LVEF (29 vs. 42%; p0.001) and more often mid-wall LGE (80 vs. 27%; p=0.017), when compared with other patients with P/LPV. Conclusion CMR may exhibit a specific LGE distribution in patients with familial DCM/non-dilated LV cardiomyopathy according to the mutated gene. These findings support the correlation of genotype with LGE-phenotype in primary cardiomyopathy.
Lima et al. (Sat,) reported a other. In primary cardiomyopathy, specific gene mutations correlate with distinct LGE patterns: FLNC/PKP2 and DSP with sub-epicardial LGE, TTN/LMNA with mid-wall LGE.