Key result
Compound heterozygosity for recessive MYH6 mutations was identified in patients with hypoplastic left heart who developed reduced systemic right ventricular ejection fraction.
Why the study?
What are the genetic determinants of hypoplastic left heart with latent right ventricular dysfunction in individuals with a Fontan circulation?
Population
21 family members, including 5 individuals with hypoplastic left heart and right ventricular ejection…
Design
Case_series
Authors
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MYH6 variants may flag latent RV risk in Fontan patients; leaves open whether screening alters surveillance or outcomes.
Observational (n=21)
What are the genetic determinants of hypoplastic left heart with latent right ventricular dysfunction in individuals with a Fontan circulation?
Compound heterozygosity for recessive MYH6 mutations is associated with hypoplastic left heart and reduced systemic right ventricular ejection fraction, implicating a shared molecular basis for developmental arrest and latent myopathy.
Theis et al. (2015) conducted an observational in Hypoplastic left heart with reduced ejection fraction (n=21). Recessive MYH6 mutations vs. Heterozygous carriers was evaluated on Identification of genetic determinants of right ventricular dysfunction. Compound heterozygosity for recessive MYH6 mutations was identified in patients with hypoplastic left heart who developed reduced systemic right ventricular ejection fraction.
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