Amy Kontorovich, MD, PhD
- ASSOCIATE PROFESSOR | Medicine, Cardiology
- ASSOCIATE PROFESSOR | Medicine, Medical Genomics
Specialties:Cardiovascular Disease (Heart Disease), Internal Medicine
Amy Rosen Kontorovich, MD, PhD is an Associate Professor of Medicine in Cardiology and Genomic Medicine at the Icahn School of Medicine at Mount Sinai and is the Director of the Center for Inherited Cardiovascular Diseases. She also serves as Medical Director of Adult Cardiovascular Genetics in the Zena and Michael A. Wiener Cardiovascular Institute and as core faculty in the Cardiovascular Research Institute.
Dr. Kontorovich received a B.S.E in Bioengineering from the University of Pennsylvania and M.D. and Ph.D. degrees through the Medical Scientist Training Program of the National Institutes of Health at Stony Brook University. She completed a residency in Internal Medicine and a fellowship in Cardiovascular Medicine at the Icahn School of Medicine at Mount Sinai, during which she received specialized training in genetics of cardiovascular diseases.
Dr. Kontorovich’s clinical practice is focused on the diagnosis and management of individuals with hereditary cardiovascular conditions including:
• Aortic aneurysm
• Vascular connective tissue disorders (including Marfan syndrome, Loeys-Dietz syndrome and Ehlers-Danlos syndrome)
• Other aneurysm and/or dissections
• Hereditary hemorrhagic telangiectasia
• Hypertrophic cardiomyopathy
• Dilated cardiomyopathy
• Arrhythmogenic cardiomyopathies
• Familial rhythm disorders (including Long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia and sudden cardiac death)
• Familial hypercholesterolemia
The Kontorovich Laboratory conducts translational and clinical research to further understanding of genetic relationships in cardiovascular diseases, with funding support from the National Institutes of Health, foundation and industry sponsors. The work includes investigations of a number of cardiovascular disorders from a phenotype-first or genotype-first approach, including research on the genetics of myocarditis (an inflammatory condition of the heart that can lead to sudden cardiac death and cardiomyopathy), hereditary transthyretin amyloidosis and others.
American Board of Internal Medicine
- Heart Disease
PhD, Stony Brook University Medical Center
Residency, Internal Medicine, Mount Sinai Hospital
Fellowship, Cardiovascular Disease, Mount Sinai Hospital
Kontorovich Research Group
Dr. Kontorovich’s research is focused on developing a better understanding of the relationship between genetic risks and outcomes across several cardiovascular conditions. One of the main areas of interest in the Kontorovich Laboratory is on discovering novel genetic factors that influence risk and outcomes in the inflammatory heart condition, myocarditis. In recent years, our laboratory and others have shown that human genetic variation is important in the phenotypic evolution of myocarditis and may determine the fate of disease in individuals after exposure to viruses that target the heart. Our team investigates these human genetic factors through experiments using human induced pluripotent stem cells, including gene editing techniques (i.e. CRISPR/Cas9), as well as human genomic studies on patients with myocarditis. Another mode of research for our group harnesses the power of large biobanks to identify individuals with genetic risk for specific heart conditions and utilize existing data as well as prospective studies to clarify the natural history and penetrance of these diseases. A major focus of this work is around hereditary transthyretin amyloidosis (hATTR) and cardiac amyloidosis.
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Dr. Kontorovich did not report having any of the following types of financial relationships with industry during 2022 and/or 2023: consulting, scientific advisory board, industry-sponsored lectures, service on Board of Directors, participation on industry-sponsored committees, equity ownership valued at greater than 5% of a publicly traded company or any value in a privately held company. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.
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