Amy R. Kontorovich, MD, PhD

Waving the red flag. #Genome-first approach identifies important #ATTRv-related clinical features in an ancestrally diverse population bit.ly/3WNZyIs #amyloidosis #cardiomyopathy #genomicscreening @NouraAbulHusn @GeneticHeartDoc

It may not be the Hogwarts Express, but hopping the train to DC around the holidays can be magical, too! ✨ Get your update of CV science at #FusterCVS Dec. 6-8 & explore the city! Peek at the agenda here, secure your registration spot & book your 🚋 ✈️ 🚂 tickets today: bit.ly/4fidnWD

Congratulations @cam_phd , Pacific, Theresa and Jan on this incredibly elegant study. Super fascinating!! 😴

We are delighted to share our latest findings today in @Nature. We describe cardiogenic regulation of sleep after cardiac injury. “Myocardial infarction augments sleep to limit cardiac inflammation and damage” nature.com/articles/s4158…

Join us for an action-packed agenda at #FusterCVS: bit.ly/4eaiiIM ❇️ Evolving Clinical Genetics & Omics in 7 Myocardial Diseases: Which Subgroup or When Should Be Gene Tested? @GeneticHeartDoc ❇️ Tricuspid Regurgitation: The 5️⃣ Diagnostic & Management Challenges @hahn_rt ❇️ And more!

Genetic testing for equity: Improved access to genetics care is needed to address health inequities in hereditary transthyretin (ATTRv) amyloidosis. @GeneticHeartDoc @LathanLiou @MathewMaurer @MountSinaiHeart @CU_Cardiology ahajournals.org/doi/full/10.11…

Excited to share our article in @CircAHA where we discuss the importance of increasing #HealthEquity in #Genetics care for cardiac amyloidosis 🧬🫀. Thread below for summarized key points! (1/n) @GeneticHeartDoc @MathewMaurer

🧬New editorial w/ @MathewMaurer @LathanLiou: current inadequacies in access to #genetics care in the US hinder ATTRv detection/treatment, disproportionately so in minority communities; solutions proposed! @GeneticCouns @MountSinaiHeart @GeneticsSociety ahajournals.org/doi/10.1161/CI…

@GeneticHeartDoc's presentation at #ESCCongress regarding genetic susceptibility to #myocarditis 🧬 TTN and DSP variants are prevalent among patients with acute myocarditis and significant overlap is seen with DCM and ACM 🚩 @KristinaHaugaa @MondaEmanuele @CrottiLia

Prevalence of pathogenic/likely pathogenic variants of CMP associated genes in complicated myocarditis 22% in adults and 45% in children! Sarcomeric gene variants more prevalent in complicated myocarditis. #JACCHF @JACCJournals jacc.org/doi/10.1016/j.… jacc.org/doi/10.1016/j.…

Happy almost summer🌞! @MountSinaiHeart Center for Inherited Cardiovascular Genetics team and @SinaiHeartBlood Kontorovich Lab members/key collaborators enjoyed an 🍦break in Central Park today to celebrate enrollment goals met, new grants submitted and the science to come.

Amy Kontorovich on the role for genomics in cardiovascular disease #SpeakingGenomics2024 @IcahnMountSinai @MountSinaiNYC @SinaiGenHealth

Honored to have Dr Monica Kraft (chair of @DOMSinaiNYC ) give the opening talk in the inaugural Speaking Genomics in Clinical Care #SpeakingGenomics2024 @SinaiGenHealth @SinaiGenetics @MountSinaiNYC @MountSinaiHeart @TischCancer

✨Speaking Genomics in Clinical Care Symposium - CME Event✨ Join us for this full-day in-person event hosted by us and @DOMSinaiNYC #SpeakingGenomics2024 @IcahnMountSinai @MountSinaiNYC #Genomics #GenomicHealth #GenomicMedicine #WeFindaWay

@LathanLiou @AHAScience @paul_f_oreilly @Juditperala @kovacic_jason Congratulations and fantastic work Lathan!

I had a fantastic time at @AHAScience #EPILifestyle24 presenting on polygenic risk scores! Honored to have been selected as a Jeremiah and Rose Stamler Research Award Finalist. Big thanks to mentors and collaborators! @paul_f_oreilly @Juditperala @GeneticHeartDoc @kovacic_jason

Genetics in cardiomyopathy by @GeneticHeartDoc 👌

Excited to have this paper on #Dysautonomia and #LongCovid published in our special issue on #Neurology and autonomic disorders in @JPM_MDPI from @MountSinaiNYC group, including @PutrinoLab @GeneticHeartDoc and other co-authors. There is still time to submit your papers to this special issue that I am guest editing: deadline is December 20. #neurotwitter #MedTwitter #AcademicTwitter mdpi.com/2075-4426/13/1…

🧬 New! RAF1 Cysteine-Rich Domain variants increase RAF1 activity and associate with HCM and Noonan-spectrum disorders Add this domain to two others in RAF1 associated with HCM Great work by 🌟 team! Dominic Fullenkamp, @Desireefleach Ryan Jorgensen, @Lmdcastillo73 et al

I’m excited to share that our case report of sudden cardiac arrest triggered by minimal alcohol consumption in a family with PPA2 Deficiency seen @MountSinaiHeart and @SinaiGenetics was recently published in #JACCCaseReports @JACCJournals jacc.org/doi/10.1016/j.…

@krishnapatel888 @lesleejshaw @NIHAging @MountSinaiWHRI @MountSinaiHeart @GelfmanLaura @MSMCardsFellows @alessia_gimelli @MichaelGNanna @mdicarli Woohoo!! Way to go Krishna!! 🍾 💪

Thrilled to receive my first NOA from @NIHAging for my GEMSSTAR evaluating the role of stress imaging in older adults. 🙏 for the trust and support from an amazing team of mentors and cheerleaders. @MountSinaiWHRI @MountSinaiHeart @lesleejshaw @GelfmanLaura