Arrhythmogenic Disorders: Current Testing and Management Strategies with Marina Cerrone, MD

The field of inherited arrhythmias is rapidly expanding and a growing number of genes have been associated with these diseases. However, the clinical application of genetic testing is challenged by the complexity of interpretation of the majority of variants detected. In addition, recent scientific evidence has been questioning the “one gene one disease concept” adding complexity to the clinical management of these patients. This seminar will review the clinical and genetic features of different inherited arrhythmogenic disorders and how to better target genetic testing in order to improve the interpretation of the results. Finally, the seminar will discuss current translational science strategies that can improve the understanding of genotype phenotype correlations and provide novel therapeutic approaches in these conditions.

Level of Instruction: Advanced

Marina Cerrone, MD | Presenter

Research Assistant Professor, Division of Cardiology, Dept of Medicine, NYU Medical Center

During her training, both in Medical School and during Cardiology Fellowship, Dr. Marina Cerrone developed a research interest in inherited arrhythmogenic diseases. Her clinical work focused on the evaluation and care of families affected by inherited channelopathies and cardiomyopathies, on the genetic counseling and interpretation of genetic screening results and on the maintenance and analysis of epidemiological data derived by the internal database created by the Molecular Cardiology in Pavia led by her mentor, Dr. Silvia Priori. As a research fellow in Italy, and then as a postdoctoral fellow in Syracuse NY, working under the mentorship of Dr. Jose Jalife, Dr. Cerrone characterized the electrocardiographic phenotype and the arrhythmia mechanisms of the first engineered mouse model of CPVT. In her current position at NYU as Co-Director of the Inherited Arrhythmia Clinic, Dr. Cerrone participates in clinical research involving this patient population, and in the translational research performed in the basic science lab, using animal models and cells in culture. Her recently published work has focused on the mechanisms of arrhythmias in the setting of Arrhythmogenic Cardiomyopathy (ACM/ARVC) using the first cardiac-specific, tamoxifen-activated PKP2-cKO mouse. They discovered that plakophilin-2 has a pleiotropic function and, in addition to its mechanical adhesion role exerts an important transcriptional regulatory role which can affect calcium homeostasis, thus facilitating arrhythmias in the early stage of the disease. It is her current interest to expand her knowledge and experience on human genetics studies as they pertain to this set of diseases.

Susan Toomey, MS, CGC | Moderator

Genomic Science Liaison, Ambry Genetics

Susan Toomey joined Ambry Genetics in 2017 as the General Genetic Specialist for the Mountain and Pacific Northwest territories. Susan received her Masters of Science Degree in Biophysics and Genetics from the University of Colorado; and holds a BA in Sociology and Evolutionary Science from the University of Cincinnati. She has held previous genetic counseling positions at the Colorado Genetics Laboratory, Colorado Center for Reproductive Medicine, and the Children’s Hospital Colorado in the Neurocutaneous and Neuromuscular Clinics.