Marissa Stutzman

Cardiology, cardiac electrophysiology, disease modeling, pediatrics, genetics

Research Experience

Mayo Clinic, Summer of 2018 and 2020-2022
Advisor: Michael Ackerman, MD, PhD
Projects: 1) Functional characterization of three novel N-terminal RYR2 variants using patient-specific induced pluripotent stem cell derived cardiomyocytes, 2) Utilizing a novel RyR2 channel stabilizer (Rycal compound) to rescue calcium handling kinetics associated with catecholaminergic polymorphic ventricular tachycardia, 3) Identification of a therapeutic for a novel SCN5A variant causing drug resistant Long QT Syndrome Type 3, 4) Patch-clamp electrophysiological study of a novel SCN5A variant suspected of causing Brugada syndrome.

Arcadia University, 2017-2019
Advisor: Sheryl Smith, PhD
Project: Examining effect of Bisphenol A exposure during development on endocrine signaling pathways in Drosophila melanogaster.

Publications

Stutzman MJ, Gao X, Kim M, Ye D, Zhou W, Tester DJ, Giudicessi JR, Shannon K, Ackerman MJ. Functional characterization and identification of a therapeutic for a novel SCN5A-F1760C variant causing type 3 long QT syndrome refractory to all guideline-directed therapies. Heart Rhythm. 2023 May;20(5):709-717. doi: 10.1016/j.hrthm.2023.01.032. Epub 2023 Jan 31. PMID: 36731785.

Stutzman MJ, Kim CSJ, Tester DJ, Hamrick SK, Dotzler SM, Giudicessi JR, Miotto MC, Gc JB, Frank J, Marks AR, Ackerman MJ. Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential. Stem Cell Reports. 2022 Sep 13;17(9):2023-2036. doi: 10.1016/j.stemcr.2022.07.002. Epub 2022 Aug 4. PMID: 35931078; PMCID: PMC9481874.

Stutzman M, Kim CSJ, Tester D, Characterization of Extreme N-terminal RYR2 Variants Found Outside CPVT1-Causative Hotspots Using Patient-Specific Induced Pluripotent Stem Cells Reveal Pathogenesis and Therapeutic Potential. Stem Cell Reports. 2022. In press.

Giudicessi JR, Ye D, Stutzman MJ, Zhou W, Tester DJ, Ackerman MJ. Prevalence and electrophysiological phenotype of rare SCN5A genetic variants identified in unexplained sudden cardiac arrest survivors. Europace. 2020 Apr 1;22(4):622-631. doi: 10.1093/europace/euz337. PMID: 32091595.

Stutzman MJ, Ye D, Tester DJ, Giudicessi JR, Ackerman MJ. Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication. HeartRhythm Case Rep. 2018 Dec 11;5(3):163-168. doi: 10.1016/j.hrcr.2018.11.019. PMID: 30891416; PMCID: PMC6404365. 

Meeting Abstracts

Stutzman M, Kim M, Ye D, et al. Functional Characterization of a Therapeutic for a Novel SCN5A-F1760C Variant Causing Type 3 Long QT Syndrome Refractory to All Guideline Directed Therapies. Heart Rhythm Scientific Sessions. May 2022. [Poster]

Stutzman M, Kim CSJ, et al. A Novel RyR2 Channel Stabilizer Effectively Rescues Calcium Handling Kinetics Associated with Catecholaminergic Polymorphic Ventricular Tachycardia in Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes. Heart Rhythm Scientific Sessions. May 2022. [Poster]

Stutzman M, Tester D, et al. Idiopathic Ventricular Fibrillation Endophenotype Determines the Yield of Ultra-Rare RYR2 Variants in Youthful Unexplained Sudden Cardiac Arrest. American Heart Association Scientific Sessions. November 2021. [Virtual Poster]

Stutzman M, Kim CSJ, et al. Characterization of Extreme N-terminal RYR2 Variants Found Outside CPVT1 Variant Cluster Regions Show Ca2+ Handling Abnormalities Consistent with Classical Catecholaminergic Polymorphic Ventricular Tachycardia. Heart Rhythm Scientific Sessions. July 2021. [Poster]

Stutzman M, Nguyen J, Vierick M, et al. Bisphenol A During Development Disrupts Expression of Multiple Genes of the InR, EcR, and ERR Signaling Pathways Associated with Growth Defects in Drosophila melanogaster. Lehigh Valley Molecular and Cell Biology Conference. April 2019. [Poster] 

General Interests

Hiking, travel, basketball, and pickleball