Key result
LV/RV dysfunction and filling pressures predict major events in NICM, while gene mutations do not.
Why the study?
Nonischaemic cardiomyopathy comprises patients with heterogeneous left ventricular structure, function, genetic background, and prognosis, prompting the evaluation of genotype-phenotype relationships and their prognostic significance.
Do pathogenic/likely pathogenic gene mutations and CMR-derived parameters predict major cardiovascular events in patients with nonischaemic cardiomyopathy?
Cohort (n=249)
Do pathogenic/likely pathogenic gene mutations and CMR-derived parameters predict major cardiovascular events in patients with nonischaemic cardiomyopathy?
p-value: p=<0.05
In patients with nonischaemic cardiomyopathy, clinical and CMR-derived parameters independently predict major cardiovascular events, whereas the presence of pathogenic gene mutations does not.
CMR parameters may refine event prediction in nonischaemic cardiomyopathy; genotype role leaves open for prospective validation.
Background Nonischaemic cardiomyopathy (NICM) comprises patients with very different left ventricular (LV) structure and function, different genetic background and different prognosis. Purpose to study genotype-phenotype relationship in NICM and its prognostic significance. Methods All patients with a comprehensive clinical, genetic and CMR assessment and with LV ejection fraction (LVEF) <55% were retrospectively included. Patients with coronary artery disease, valvular, congenital, hypertrophic, inflammatory or infiltrative disease were excluded. The primary endpoint was a composite of cardiovascular death, sustained ventricular arrhythmias or appropriate defibrillator intervention. The secondary endpoint included also heart failure hospitalizations. Results The cohort included 249 patients (age 53±14 years, 166 males) with median LVEF 45% (IQ range 33-51%), divided in 143 dilated (DCM) and 106 non-dilated (NDLVD) patients. A pathogenic/likely pathogenic (P/LP) mutation was present in 67 (27%), and was not associated with LV dilation, dysfunction or tissue characteristics at CMR . During a 72 (35-119) month follow-up, 54 patients (22%) experienced the composite event (36 sustained ventricular arrhythmias, 18 cardiovascular deaths), 67 patients the secondary endpoint (27%). At multivariate analysis, male sex, disease duration, NT-proBNP, non-sustained ventricular arrhythmias at 24-hour Holter monitoring, LVEF, left atrial volume and CMR-derived LV filling pressure were all predictors of the primary endpoint (p<0.05). Moreover, disease duration, NT-proBNP, non-sustained ventricular arrhythmias at 24-hour Holter monitoring, RVEF and CMR-derived LV filling pressure were all predictors of the secondary endpoint (p<0.05). The presence of P/LP mutations did not predict prognosis. Conclusions In patients with non ischaemic cardiomyopathy, LV and RV systolic dysfunction, left atrial volume and CMR-derived LV filling pressure were predictors of major cardiovascular events independently from established clinical factors, while gene mutations were not.
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Barison et al. (2026) conducted a cohort in Nonischaemic cardiomyopathy (n=249). Pathogenic/likely pathogenic (P/LP) mutations and CMR parameters was evaluated on Composite of cardiovascular death, sustained ventricular arrhythmias or appropriate defibrillator intervention (p=<0.05). In patients with nonischaemic cardiomyopathy, LV and RV systolic dysfunction, left atrial volume and CMR-derived LV filling pressure predicted major cardiovascular events, while gene mutations did not.
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