Whole Genome Sequencing IDs Additional Genetic Causes of Hypertrophic Cardiomyopathy

Whole genome sequencing (WGS) was able to identify additional genetic causes of hypertrophic cardiomyopathy (HCM) when compared with a targeted approach, results from a study published in the Journal of the American College of Cardiology. The researchers performed WGS in 58 unrelated patients with HCM, 14 family members and two unaffected parents with affected probands 

The researchers searched specifically for 184 nucleotide variants in coding regions associated with hypertrophic cardiomyopathy genes. According to their results, a pathogenic or likely pathogenic variant was identified in 9 of 46 families (20%) in whom prior genetic testing was inconclusive. As first-line testing, WGS identified pathogenic variants in 5 of 12 (42%) of families that had not received prior genetic testing.  

“Extending genetic screening to deep intronic regions identified pathogenic variants in 9% of gene-elusive hypertrophic cardiomyopathy,” the authors wrote. “These findings translate to more accurate diagnosis and management in hypertrophic cardiomyopathy families.” 

For the Full JACC Abstract click here


Source: JACC