Key result
Positive genotype linked to ~51% higher risk of MACE in nonischemic dilated cardiomyopathy.
Why the study?
The clinical relevance and prognostic impact of genetic variants in nonischemic dilated cardiomyopathy remain unsettled.
Does the presence of pathogenic or likely pathogenic genetic variants predict major adverse cardiovascular events in patients with nonischemic dilated cardiomyopathy?
Cohort (n=1,005)
Yes
Does the presence of pathogenic or likely pathogenic genetic variants predict major adverse cardiovascular events in patients with nonischemic dilated cardiomyopathy?
Hazard Ratio: 1.51 (95% CI 1.17–1.94)
Absolute Event Rate: 31.7% vs 19.8%
p-value: p=0.001
Captured external expert commentary on this paper, strongest first. Original sources are linked where available.
“This is an important study because its findings suggest that genetic studies will allow us to better identify patients with DCM with a worse prognosis. These findings now need to be evaluated for their efficacy as a point-of-care tool.”
In patients with nonischemic dilated cardiomyopathy, the presence of pathogenic or likely pathogenic genetic variants is associated with a significantly worse prognosis, including higher risks of major adverse cardiovascular events, end-stage heart failure, and malignant ventricular arrhythmias.
Background The clinical relevance of genetic variants in nonischemic dilated cardiomyopathy (DCM) is unsettled. Objectives The study sought to assess the prognostic impact of disease-causing genetic variants in DCM. Methods Baseline and longitudinal clinical data from 1,005 genotyped DCM probands were retrospectively collected at 20 centers. A total of 372 (37%) patients had pathogenic or likely pathogenic variants (genotype positive) and 633 (63%) were genotype negative. The primary endpoint was a composite of major adverse cardiovascular events. Secondary endpoints were end-stage heart failure (ESHF), malignant ventricular arrhythmia (MVA), and left ventricular reverse remodeling (LVRR). Results After a median follow-up of 4.04 years (interquartile range: 1.70-7.50 years), the primary endpoint had occurred in 118 (31.7%) patients in the genotype-positive group and in 125 (19.8%) patients in the genotype-negative group (hazard ratio [HR]: 1.51; 95% confidence interval [CI]: 1.17-1.94; P = 0.001). ESHF occurred in 60 (16.1%) genotype-positive patients and in 55 (8.7%) genotype-negative patients (HR: 1.67; 95% CI: 1.16-2.41; P = 0.006). MVA occurred in 73 (19.6%) genotype-positive patients and in 77 (12.2%) genotype-negative patients (HR: 1.50; 95% CI: 1.09-2.07; P = 0.013). LVRR occurred in 39.6% in the genotype-positive group and in 46.2% in the genotype-negative group (P = 0.047). Among individuals with baseline left ventricular ejection fraction ≤35%, genotype-positive patients exhibited more major adverse cardiovascular events, ESHF, and MVA than their genotype-negative peers (all P < 0.02). LVRR and clinical outcomes varied depending on the underlying affected gene. Conclusions In this study, DCM patients with pathogenic or likely pathogenic variants had worse prognosis than genotype-negative individuals. Clinical course differed depending on the underlying affected gene.
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Escobar-López et al. (2021) conducted a cohort in Nonischemic Dilated Cardiomyopathy (n=1,005). Pathogenic or likely pathogenic genetic variants (Genotype positive) vs. Genotype negative was evaluated on Composite of major adverse cardiovascular events (HR 1.51, 95% CI 1.17-1.94, p=0.001). Genotype-positive patients with nonischemic dilated cardiomyopathy had a higher risk of major adverse cardiovascular events than genotype-negative patients (31.7% vs 19.8%; HR 1.51; P=0.001).
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