#OriginalResearch In mice models, dysfunction adhesion was demonstrated to play a key role in the pathophysiology of arrhythmogenic cardiomyopathy #AHAJournals https://t.co/5dRdlRtetN
Like everything else she writes, a must read in @JACCJournals#JACCHF from @AG_EM33 💙💚
Critical Importance of Genetic Screening in Family Members
#cvGenetics
https://t.co/0Rg4dmf191
Outstanding @jclinicalinvest review about novel myosin-based interventions! @jct_ucb @sday_hcm
JCI - Myosin modulators: emerging approaches for the treatment of cardiomyopathies and heart failure https://t.co/10aoSbRQZo
Excited to share some new work from us today on ultra-rapid genome sequencing for the diagnosis of critically ill children and adults.
In critical care settings, genetic diagnosis can shorten stays, direct precision therapy, save money, and help with family planning. 1/
Super excited to release https://t.co/CsJaykgnSp, a web application for browsing association results for 3,700 phenotypes across 281,850 individuals from the UK Biobank. The site features plots, tables, and controls for exploring billions of associations.
Our paper on “The genetic architecture of Plakophilin 2 cardiomyopathy” is now online at @GIMJournal.
Please check it out (and/or read the thread below) at https://t.co/Ymnjgzcs9T ! 1/n
Our work in childhood-onset HCM now published in #EHJ@ESC_Journals
Take Home Points:
1) 3 peaks of HCM onset, peak in teens driven by Sarcomeric HCM
2) ~15% of HCM is diagnosed in childhood, carrying ~2%/yr event rate
3)⬆️risk of VT & VAD/Transplant compared to adult-onset