Key result
Heterozygous missense mutations in the MYH6 gene were identified in 13% of patients with familial atrial septal defects and were absent in controls, indicating MYH6 is a predominant disease gene.
Why the study?
Do mutations in sarcomeric genes contribute to the etiology of familial ASDII?
Population
31 patients with proven familial secundum-type atrial septal defects of European origin, and 185 ethnically…
Comparison
Array-based resequencing of 13 sarcomeric genes. vs 185 ethnically matched control patients without…
Design
Case-control
Authors
Loading...
MYH6 screening may be considered in familial ASD; extends sarcomeric gene role but remains hypothesis-generating pending validation.
Observational (n=216)
Yes
Do mutations in sarcomeric genes contribute to the etiology of familial ASDII?
Absolute Event Rate: 13% vs 0%
Mutations in the MYH6 gene encoding alpha-myosin heavy chain are a significant genetic cause of familial secundum-type atrial septal defects.
Posch et al. (2011) conducted an observational in Familial Atrial Septal Defects (ASDII) (n=216). MYH6 gene mutations vs. Individuals without congenital heart defects was evaluated on Presence of MYH6 mutations. Heterozygous missense mutations in the MYH6 gene were identified in 13% of patients with familial atrial septal defects and were absent in controls, indicating MYH6 is a predominant disease gene.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: