Amy R. Kontorovich, MD, PhD
@geneticheartdoc
Genetic cardiologist and investigator #myocarditis #ATTR #cardiomyopathy #arteriopathy #EDS #CVgenetics #genomics @MountSinaiNYC @MountSinaiHeart
ID: 1028008117035040769
https://www.mountsinai.org/profiles/amy-r-kontorovich 10-08-2018 20:00:09
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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 Mount Sinai Fuster Heart Hospital and Mount Sinai Genetics was recently published in #JACCCaseReports JACC Journals jacc.org/doi/10.1016/j.…
🧬 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, Desiree Leach, PhD Ryan Jorgensen, Lisa Castillo et al
Excited to have this paper on #Dysautonomia and #LongCovid published in our special issue on #Neurology and autonomic disorders in JPM_MDPI from Mount Sinai Health System group, including Putrino Lab Amy R. Kontorovich, MD, PhD and other co-authors. There is still time to submit your papers to
✨Speaking Genomics in Clinical Care Symposium - CME Event✨ Join us for this full-day in-person event hosted by us and Mount Sinai Department of Medicine #SpeakingGenomics2024 Icahn School of Medicine at Mount Sinai Mount Sinai Health System #Genomics #GenomicHealth #GenomicMedicine #WeFindaWay
Honored to have Dr Monica Kraft (chair of Mount Sinai Department of Medicine ) give the opening talk in the inaugural Speaking Genomics in Clinical Care #SpeakingGenomics2024 Mount Sinai Institute for Genomic Health Mount Sinai Genetics Mount Sinai Health System Mount Sinai Fuster Heart Hospital The Tisch Cancer Institute
Amy Kontorovich on the role for genomics in cardiovascular disease #SpeakingGenomics2024 Icahn School of Medicine at Mount Sinai Mount Sinai Health System Mount Sinai Institute for Genomic Health
Happy almost summer🌞! Mount Sinai Fuster Heart Hospital Center for Inherited Cardiovascular Genetics team and Cardiovascular Research Institute at Sinai (CVRI) 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.
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 JACC Journals jacc.org/doi/10.1016/j.… jacc.org/doi/10.1016/j.…
Amy R. Kontorovich, MD, PhD'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 🚩 Kristina Haugaa Emanuele Monda Lia Crotti
Excited to share our article in Circulation where we discuss the importance of increasing #HealthEquity in #Genetics care for cardiac amyloidosis 🧬🫀. Thread below for summarized key points! (1/n) Amy R. Kontorovich, MD, PhD mathew.maurer
🧬New editorial w/ mathew.maurer Lathan Liou: current inadequacies in access to #genetics care in the US hinder ATTRv detection/treatment, disproportionately so in minority communities; solutions proposed! Genetic Counselors Mount Sinai Fuster Heart Hospital ASHG ahajournals.org/doi/10.1161/CI…
Genetic testing for equity: Improved access to genetics care is needed to address health inequities in hereditary transthyretin (ATTRv) amyloidosis. Amy R. Kontorovich, MD, PhD Lathan Liou mathew.maurer Mount Sinai Fuster Heart Hospital ColumbiaCardiology ahajournals.org/doi/full/10.11…
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? Amy R. Kontorovich, MD, PhD ❇️ Tricuspid Regurgitation: The 5️⃣ Diagnostic & Management Challenges
Congratulations Cameron McAlpine , Pacific, Theresa and Jan on this incredibly elegant study. Super fascinating!! 😴
Waving the red flag. #Genome-first approach identifies important #ATTRv-related clinical features in an ancestrally diverse population bit.ly/3WNZyIs #amyloidosis #cardiomyopathy #genomicscreening Noura Abul-Husn, MD, PhD 🧬 Amy R. Kontorovich, MD, PhD