Why the study?
Does Next-Generation Sequencing yield different mutation detection rates in early-onset versus late-onset hypertrophic cardiomyopathy patients?
Population
70 patients with hypertrophic cardiomyopathy from an Italian cohort, including 35 with early-onset and 35…
Design
Cross-sectional
Key result
Next-Generation Sequencing yielded a significantly higher mutation detection rate in early-onset compared to late-onset hypertrophic cardiomyopathy patients (85.7% vs 22.9%, p<0.0001).
Authors
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NGS panels may boost diagnostic yield in early-onset HCM with family history; supports refined selection criteria but leaves broader adoption open pending validation.
Cohort (n=70)
Does Next-Generation Sequencing yield different mutation detection rates in early-onset versus late-onset hypertrophic cardiomyopathy patients?
Absolute Event Rate: 85.7% vs 22.9%
p-value: p=< 0.0001
Next-Generation Sequencing provides a high diagnostic yield in early-onset HCM and those with a family history, suggesting targeted genetic testing is highly effective in these subgroups.
Rubattu et al. (2016) conducted a cohort in Hypertrophic cardiomyopathy (HCM) (n=70). Early disease onset (≤25 years) vs. Late disease onset (≥65 years) was evaluated on Mutation detection rate (p=< 0.0001). Next-Generation Sequencing yielded a significantly higher mutation detection rate in early-onset compared to late-onset hypertrophic cardiomyopathy patients (85.7% vs 22.9%, p<0.0001).