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.
— JACC Journals (@JACCJournals) July 20, 2018
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.”
Genome sequencing for HCM identifies P/LP variant in 20% of patients with previous inconclusive testing (intrinsic and mito variants). Authors integrate use of genome sequencing and RNA analysis. Great work @rdbagnall @jodieingles27 @CSHeartResearch https://t.co/UkfxgmDzh6
— CardioGC (@CardioGC) July 17, 2018
Good news from Centenary Institute Australia, a breakthrough that will improve the diagnosis of HCM by up to 20%. https://t.co/qMV6pvhE9F
— hearts4heart (@hearts4heart) July 17, 2018
This important paper shows how much research still needs to be done in genetic forms for #heartdisease to help families to assess and decrease their risk of #suddendeat. Great job @CSHeartResearch @jodieingles27 @rdbagnall https://t.co/34WRa1g8q8
— ACvA (@OzCvA) July 17, 2018
— Richard Bagnall (@rdbagnall) July 16, 2018
Very pleased to share this paper led by @rdbagnall @jodieingles27 @CSHeartResearch. Using #WGS we found several deep intronic splice altering, and one mtDNA pathogenic mutations missed by previous testing of #HCM https://t.co/vVGPDfgAKX
— Mark Cowley (@markjcowley) July 17, 2018
For the Full JACC Abstract click here