Precision Medicine Approaches to Vascular Disease: JACC Focus Seminar 2/5.

Clint L Miller, Amy R Kontorovich, Ke Hao, Lijiang Ma, Conrad Iyegbe, Johan L M Björkegren, Jason C Kovacic

Journal: Journal of the American College of Cardiology 2021;77(20):2531-2550

PMID: 34016266

Free Full Text on Elsevier Science View on PubMed

Abstract

In this second of a 5-part Focus Seminar series, we focus on precision medicine in the context of vascular disease. The most common vascular disease worldwide is atherosclerosis, which is the primary cause of coronary artery disease, peripheral vascular disease, and a large proportion of strokes and other disorders. Atherosclerosis is a complex genetic disease that likely involves many hundreds to thousands of single nucleotide polymorphisms, each with a relatively modest effect for causing disease. Conversely, although less prevalent, there are many vascular disorders that typically involve only a single genetic change, but these changes can often have a profound effect that is sufficient to cause disease. These are termed "Mendelian vascular diseases," which include Marfan and Loeys-Dietz syndromes. Given the very different genetic basis of atherosclerosis versus Mendelian vascular diseases, this article was divided into 2 parts to cover the most promising precision medicine approaches for these disease types.

Address: Center for Public Health Genomics, Department of Public Health Sciences, University of Virginia School of Medicine, Charlottesville, Virginia, USA. Electronic address: [email protected].; Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA; The Mindich Child Health and Development Institute, Icahn School of Medicine, New York, New York, USA; The Institute for Genomic Health, Icahn School of Medicine, New York, New York, USA. Electronic address: [email protected].; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Integrated Cardio Metabolic Centre, Department of Medicine, Karolinska Institutet, Karolinska Universitetssjukhuset, Huddinge, Sweden.; Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia; St. Vincent's Clinical School, UNSW Sydney, Kensington, New South Wales, Australia. Electronic address: [email protected].

DOI: 10.1016/j.jacc.2021.04.001