Genetic cardiologist and investigator #myocarditis #ATTR #cardiomyopathy #arteriopathy #EDS #CVgenetics #genomics @MountSinaiNYC @MountSinaiHeart
New York, NY
Joined August 2018
- Tweets415
- Following271
- Followers1.2K
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Amy R. Kontorovich, MD, PhD retweeted
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
ALT Screenshot of Figure 2: Cumulative incidence byTTRp.(Val142Ile) variant status of first diagnosis of ATTRv-related clinical features in individuals ≥60 years of age. A-E. Cardiomyopathy or heart failure (A), atrial fibrillation (B), polyneuropathy (C), carpal tunnel syndrome (D), and proteinuria (E).
Amy R. Kontorovich, MD, PhD retweeted
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/s41586-0…
Amy R. Kontorovich, MD, PhD retweeted
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/s41586-0…
Amy R. Kontorovich, MD, PhD retweeted
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!
Amy R. Kontorovich, MD, PhD retweeted
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.…
Amy R. Kontorovich, MD, PhD retweeted
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/…
Amy R. Kontorovich, MD, PhD retweeted
@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
Amy R. Kontorovich, MD, PhD retweeted
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.jchf.…
jacc.org/doi/10.1016/j.jchf.…
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 R. Kontorovich, MD, PhD retweeted
Amy Kontorovich on the role for genomics in cardiovascular disease #SpeakingGenomics2024 @IcahnMountSinai @MountSinaiNYC @SinaiGenHealth
Amy R. Kontorovich, MD, PhD retweeted
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
Monica Kraft opens the Speaking Genomics in Clinical Care meeting #SpeakingGenomics2024 @IcahnMountSinai @MountSinaiNYC @SinaiGenHealth
Amy R. Kontorovich, MD, PhD retweeted
✨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 retweeted
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/2075-4426/13/11/160…
Amy R. Kontorovich, MD, PhD retweeted
🧬 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
From @LWilsbacher + team: Hypertrophic Cardiomyopathy Secondary to RAF1 Cysteine-Rich Domain Variants
ahajournals.org/doi/abs/10.1…
@AHAScience #AHAjournals #CardioTwitter #Genetics
Amy R. Kontorovich, MD, PhD retweeted
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.jacca…
Amy R. Kontorovich, MD, PhD retweeted
The MF is looking to support Dr. Amy Kontorovich’s study (Mt. Sinai, NYC) on Myocarditis from any cause, including Vaccine-Associated Myocarditis.
Dr. Kontorovich and Mt. Sinai Hospital, NYC are enrolling patients now.
redcap.mountsinai.org/redcap…
The Mount Sinai Myocarditis Biobank is recruiting children & adults with all-cause #myocarditis to study genetic associations and risks. Physicians: please share with eligible patients. DM me if you would like a PDF version of flyer or feel free to share QR code/link below.
