Key result
Damaging MYH6 variants strongly associate with HLHS and predict reduced transplant-free survival.
Why the study?
Are damaging MYH6 variants enriched in patients with hypoplastic left heart syndrome and do they affect clinical outcomes?
Population
190 unrelated subjects with hypoplastic left heart syndrome and a multigenerational family with high…
Comparison
Presence of damaging MYH6 variants vs 1000 Genomes Project cohort and HLHS subjects…
Design
Case-control
Authors
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MYH6 variants may identify higher-risk HLHS patients; leaves open whether screening or targeted interventions improve outcomes.
Case-Control (n=190)
Are damaging MYH6 variants enriched in patients with hypoplastic left heart syndrome and do they affect clinical outcomes?
p-value: p=< 1 × 10^-5
Rare, damaging variants in the MYH6 gene are enriched in patients with hypoplastic left heart syndrome and are predictive of poorer transplant-free survival.
Tomita‐Mitchell et al. (2016) conducted a case-control in Hypoplastic left heart syndrome (HLHS) (n=190). Damaging MYH6 variants vs. 1000 Genomes Project was evaluated on Enrichment of damaging MYH6 variants (p=< 1 × 10^-5). Damaging MYH6 variants were significantly enriched in HLHS cases compared to controls (P<1×10^-5) and predicted reduced transplant-free survival (P<1×10^-2).
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