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#SimPub #CircESC2024 Lifelong LDL-C levels, driven by rare genetic variants, significantly influence aortic stenosis (AS) risk. Findings suggest that early & sustained lipid-lowering therapy could be key in preventing AS. ahajournals.org/doi/10.1161/CI…

Simple question: Does ⬆️ LDL-C cause aortic stenosis (#AS)? NEW cutting edge work Circulation intersecting #WhyCMR / #AI & rare variant #genomics says YES Congrats Joel Rämö Sean Jurgens Shino Kany Patrick Ellinor James Pirruccello ! Broad Institute Mass General Heart UCSF Health

Excited to share our preprint led by Satoshi Koyama on the exome-wide analysis of blood lipids in 1.2M diverse individuals! In addition to id'ing new genes, we refine estimates of expressivity & penetrance of individual monogenic variants for lipids & CAD medrxiv.org/content/10.110…

We are pleased to share our latest study entitled "Exome wide association study for blood lipids in 1,158,017 individuals from diverse populations" (1/19) medrxiv.org/content/10.110…

Exercise is beneficial for health. But many people have to cram their activity into 1-2 days/week. Do they still get the benefit? To find out, we looked at associations of "weekend warrior” (WW) physical activity) and >600 diseases, now Circulation ! A 🧵 ahajournals.org/doi/10.1161/CI…

Deep dive on #EARLYTAVR from ##TCT2024 Lots already said & discussed It takes time to read the paper, read the supplementary appendix, analyse the results, think about them etc! Some thoughts...🧵

Incredibly excited that my friend & colleague Patrick Ellinor is the new Executive Director of the Mass General Brigham Heart & Vascular Institute!! MassGeneral News Brigham and Women's Hospital

Low-density lipoprotein (LDL) cholesterol can lead to serious heart problems if not managed. It’s well known that many genes influence LDL levels. New research from American Heart Association using AllofUsResearch & UK Biobank shows some variants can help 🧬 allof-us.org/3YkVsZE [1/2]

In Orli Bahcall, our international team delivers a GWAS of dilated cardiomyopathy (DCM) - major cause of heart failure/transplant - led by Sean Jurgens, Joel Rämö, et al., with key leadership from Patrick Ellinor, Mark Daly, Connie Bezzina, and others. nature.com/articles/s4158…

What is the role of common genetic variation in dilated cardiomyopathy (DCM) 🧬 and what causal pathways underlie the disease? 🫀 Happy to share our GWAS for DCM, published last week in Nature Genetics nature.com/articles/s4158… Amsterdam UMC Broad Institute A detailed 🧵below:

We went on to perform Mendelian randomization, to find causal risk factors for DCM through genetics 🧬 We identified several potential causes of DCM, including AF, bodyweight, height and SBP with bodyweight and SBP remaining as independent and robust causal risk factors ♥️➡️❤️‍🔥

#ICYMI: Rare Genetic Variants, LDL-C and Aortic Stenosis James Pirruccello Joel Rämö Broad Institute Mass General Heart UCSF Cardiology Patrick Ellinor Shaan Khurshid Joel Rämö Sean Jurgens Shino Kany @mahnazmaddah

Is slow heart rate or conduction block heritable? Check out our new meta-analysis Nature Genetics incl common (~1.3m individuals) + rare (~400k) variants for bradyarrhythmias and conduction dz. Co-led w/ Lu-Chen Weng Joel Rämö Sean Jurgens Broad Institute ! nature.com/articles/s4158…

Just how many diseases can you identify with a good old 12-lead #ECG? NEW npj Digital Medicine, co-led w/ Sam Freesun Friedman, RVpacing & xwang, we use an autoencoder to map ECG to phenome, finding associations btwn ECG & >600 conditions Broad Institute ML4H Mass General Heart LINK⬇️

Delighted to share our study led by Harvard University undergrad Akshaya Ravi with Broad Institute postdoc Satoshi Koyama describing a general inverse genetic relationship between LDL-C and incident T2D. jamanetwork.com/journals/jamac… JAMA Cardiology

Is the ECG secretly a sphygmomanometer? We trained a neural net to predict hypertension from ECGs and found it associated with many cardiovascular outcomes.

Now on medRxiv, we explore the genetic similarity between dilated cardiomyopathy (DCM) and peripartum, alcohol-induced, and cancer therapy-related cardiomyopathies (PPCM, ALCM, CCM). Led by star trio Dimitri Maamari, MD, Kiran Biddinger, and Sean Jurgens. medrxiv.org/content/10.110…