Dr. Saffitz received his M.D. and Ph.D. degrees from Case Western Reserve University in 1978. He completed both a Residency in Anatomic Pathology and a Cardiovascular Research Fellowship at Washington University School of Medicine in St. Louis. From 1982-1983 he was Visiting Fellow in Cardiac Pathology at the National Heart, Lung and Blood Institute with Dr. William Roberts. He then returned to Washington University on the faculty in the Departments of Pathology and Medicine (Cardiovascular Division) and rose through the ranks to become Paul and Ellen Lacy Professor of Pathology in 1999. In 2005 he was recruited to his current position in Boston.
Dr. Saffitz is a leading basic and translational investigator in the area of sudden cardiac death, arrhythmia mechanisms in arrhythmogenic cardiomyopathies, and cardiac myocyte electrical communication. His several decades of independent, federally funded research have yielded over 260 original contributions to the literature. His research has elucidated molecular and structural determinants of normal and abnormal intercellular coupling and defined the role of altered expression of connexins (gap junction channel proteins) and remodeling of gap junctions in the pathogenesis of lethal ventricular arrhythmias. He has characterized the molecular pathology of human cardiomyopathies with the clinical phenotypes of arrhythmogenic right ventricular cardiomyopathy (ARVC), such as Naxos disease, Carvajal syndrome, ARVC Type 8 and plakophilin-related cardiomyopathies, which are caused by mutations in genes encoding proteins at cell-cell mechanical junctions. He described a new endomyocardial biopsy test that looks for abnormally low levels of plakoglobin, an essential component of cardiac myocyte junctions, and identified low levels of plakoglobin as a possible marker for ARVC (NEJM, 2009).
Dr. Saffitz has served as President of the Society for Cardiovascular Pathology, and in leadership roles in the American Heart Association and the Heart Rhythm Society. He has been a member of the Editorial Boards of 10 journals of pathology and cardiovascular medicine and is currently an Associate Editor of Cardiovascular Pathology, Circulation, and the American Journal of Pathology, and he is on the Editorial Board of the American Journal of Cardiology. He authored the chapter on The Heart in the 6th and several prior editions of Rubin's Pathology. He is also a national leader in genomic pathology in personalized medicine, and has spearheaded efforts to use next generation sequencing and other high-throughput technologies in routine clinical laboratory diagnostics. He is an accomplished teacher and academic leader, and a prototypical role-model for the cardiovascular pathologist-scientist.