Amy R. Kontorovich, MD, PhD

Genetic cardiologist and investigator #myocarditis #ATTR #cardiomyopathy #arteriopathy #EDS #CVgenetics #genomics @MountSinaiNYC @MountSinaiHeart

[Genetics in Medicine @GIMJournal]

Waving the red flag. #Genome-first approach identifies important #ATTRv-related clinical features in an ancestrally diverse population https://t.co/PEfoV9lkmu #amyloidosis #cardiomyopathy #genomicscreening @NouraAbulHusn @GeneticHeartDoc

[American College of Cardiology @ACCinTouch]

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: https://t.co/lS90gxqnyo

[Amy R. Kontorovich, MD, PhD @GeneticHeartDoc]

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

[Cameron McAlpine @cam_phd]

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”

https://t.co/ip6psmJBZ2

[Cameron McAlpine @cam_phd]

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”

https://t.co/ip6psmJBZ2

[American College of Cardiology @ACCinTouch]

Join us for an action-packed agenda at #FusterCVS: https://t.co/Cv15mJJ2vc

❇️ 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!

[Circulation @CircAHA]

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 https://t.co/9TqWOCa979

[Lathan Liou @LathanLiou]

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

[Amy R. Kontorovich, MD, PhD @GeneticHeartDoc]

🧬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 https://t.co/ZKEzEBQJCg

[Mariana Brandão @MSBBrandao]

@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

[BiykemBozkurt @BiykemB]

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 https://t.co/CIKoC5M5Bl
https://t.co/bQ2Iu5IV1E

[Amy R. Kontorovich, MD, PhD @GeneticHeartDoc]

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.

[Alex Cagan @ATJCagan]

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

[Eimear Kenny @EimearEKenny]

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

[Mount Sinai Institute for Genomic Health @SinaiGenHealth]

✨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

[Amy R. Kontorovich, MD, PhD @GeneticHeartDoc]

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

[Leandro Slipczuk @CardioMDPhD]

Genetics in cardiomyopathy by @GeneticHeartDoc 👌

[S Blitshteyn MD, FAAN, FANA, Dysautonomia Clinic @dysclinic]

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
https://t.co/O3dOnYfoyn

[Lisa Wilsbacher @LWilsbacher]

🧬 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

[Will Genthe (He/him) @WillGenthe]

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

https://t.co/k15NyIAG9q

[Amy R. Kontorovich, MD, PhD @GeneticHeartDoc]

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