Key result
Rare MYH6 variants affect >10% of HLHS patients and are linked to decreased transplant-free survival.
Why the study?
The multifactorial etiology of hypoplastic left heart syndrome makes it difficult to interpret the clinical significance of genetic variants.
Design
Review
Authors
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May aid HLHS risk stratification; hypothesis-generating and requires validation before guiding care.
MYH6 variants are present in over 10% of HLHS patients and are linked to decreased transplant-free survival, highlighting the importance of genetic testing in this population.
Anfinson et al. (2022) conducted a review in Hypoplastic left heart syndrome (HLHS). Rare, predicted damaging MYH6 variants are present in >10% of hypoplastic left heart syndrome patients and are associated with decreased transplant-free survival.
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