Cindy James, Ph.D.

Cynthia Anne James, Ph.D.

Headshot of Cindy James
  • Research Director, Johns Hopkins Center for Inherited Heart Diseases;
  • Associate Professor of Medicine

Research Interests

Cardiovascular genetic counseling; Arrhythmogenic cardiomyopathies more


Dr. Cynthia A. James is an Associate Professor of Medicine (Cardiology) and of Genetic Medicine and a certified genetic counselor (CGC) at the Johns Hopkins University School of Medicine.  She is the Research Director of both the Johns Hopkins Center for Inherited Heart Diseases and the Johns Hopkins ARVC Precision Medicine Center of Excellence

Her research focuses on

  1. investigating the interplay of genotype and environmental factors on clinical outcomes in arrhythmogenic cardiomyopathies,
  2. defining the genetic architecture of inherited cardiomyopathies, and
  3. improving cardiovascular genetic counseling service delivery and outcomes.

She is the PI of an NIH-funded 3-arm randomized clinical trial testing the impact of post-test focused genetic counseling models on patient empowerment, psychosocial, and medical outcomes as well as on genetic counseling efficiency (RESEQUENCE-GC; NCT05422573) and leads the international multicenter cardiovascular genetics outcome study.  She also leads an international investigation of DSP-cardiomyopathy and has led development and refinement of a risk prediction model for incident sustained ventricular arrhythmias to support shared decision-making for ICD implantation in patients with ARVC. In these efforts, Dr. James enjoys collaborating with a multidisciplinary group of colleagues from the Johns Hopkins Departments of Medicine and Genetic Medicine, the Bloomberg School of Public Health and the Berman Institute of Bioethics as well as numerous cardiovascular genetics colleagues across the country and abroad.

Dr. James has been published extensively, and her work has been recognized most recently with the  Zurich Arrhythmogenic Cardiomyopathy Clinical Science Research Award (2022), funding from both NHGRI and NHLBI, and a Johns Hopkins Catalyst Award.  She serves on the Executive Committee of the Johns Hopkins / National Institutes of Health Genetic Counseling Training Program and is a thesis advisor for this program.  She is a dedicated research mentor, supporting clinical, genetics, and genetic counseling studies being pursued by cardiology fellows, medical residents, genetic counseling students, and staff genetic counselors both inside and outside of Johns Hopkins.  She is extensively engaged in the cardiovascular genetics community serving as a member of the National Society of Genetic Counselors Board of Directors, The Jane Engelberg Memorial Fellowship Executive Committee, the ClinGen Cardiovascular Domain Executive Leadership, and as an active member of the Heart Rhythm Society including authoring numerous professional guidelines.

Dr. James received her undergraduate degree in biology from Cornell University in Ithaca, NY. She earned her Sc.M. in Genetic Counseling at Johns Hopkins School of Public Health and her Ph.D. in Human Genetics at Johns Hopkins University. Dr. James joined the Johns Hopkins faculty in 2013 after a decade as a practicing genetic counselor in the Johns Hopkins ARVC program.

Dr. James thoroughly enjoys mentoring research and welcomes new students, staff, and fellows. For research inquiries please contact Dr. James at:  [email protected]. more


  • Research Director, Johns Hopkins Center for Inherited Heart Diseases;
  • Research Director, Johns Hopkins ARVC Program
  • Associate Professor of Medicine
  • Assistant Professor of Genetic Medicine

Departments / Divisions

  • Genetic Medicine
  • Medicine - Cardiovascular



  • B.S.; Cornell University (New York) (1994)
  • Ph.D.; Johns Hopkins University School of Medicine (Maryland) (2003)

Additional Training

  • American Board of Genetic Counseling (ABGC) / Certified Genetic Counselor

Research & Publications

Research Summary

My research reflects my multidisciplinary background and includes ARVC/inherited cardiomyopathies and genetic counseling/policy research. In both, my goal is high-impact research, rapidly translatable to patients. I run the Johns Hopkins ARVC Registry, am PI of the Center for Inherited Heart Diseases Registry, and am Research Director of our ARVC JHU Precision Medicine Center of Excellence.  I leverage these resources to lead investigations of: 1) individualized risk prediction for sudden cardiac death (, 2) the interplay of genotype and exercise on patient outcomes, and 3) the genetic architecture of ARVC.  For genetic counseling/genomics I lead studies 1) to inform consent and return of results policies of the NIH-funded Centers for Mendelian Genomics, 2) to characterize cardiovascular genetic counseling outcomes, and 3) to investigate adaptation to inherited heart diseases.

Clinical Trials

Clinical Trial of the Sequence of Cardiovascular Genetic Counseling and Testing (RESEQUENCE-GC) (NCT05422573)

Although pre-test genetic counseling is widely recommended and has come to dominate genetic counseling practice, tailored results-focused genetic counseling could both increase genetic counseling efficiency and improve genetic counseling outcomes for the growing number of patients seeking genetic testing for recommended genome-guided medical management. This study will test that hypothesis in adults referred for cardiovascular genetic counseling and testing at the Johns Hopkins Center for Inherited Heart Diseases. This study is a three-arm randomized clinical trial to evaluate two complementary approaches to shifting the primary genetic counseling session to post-test for 510 adults with two broad cardiovascular genetic counseling indications: diagnostic panel testing and family-specific variant testing. The investigators will compare usual care (pre-test genetic counseling appointment, results returned by phone / electronic health record) with online video-based pre-test tailored genetic education with an optional (efficiency arm) or required (flipped arm) phone call with a genetic counselor followed by a post-test genetic counseling appointment. The investigators hypothesize that post-test genetic counseling will: 1) increase efficiency, 2) promote patient empowerment and adherence, and 3) have similar genetic test-associated psychosocial impact.

Selected Publications

Wang W, Murray B, Tichnell C, Gilotra NA, Zimmerman SL, Gasperetti A, Scheel P, Tandri H, Calkins H, James CA. Clinical characteristics and risk stratification of desmoplakin cardiomyopathy. Europace. 2022;24(2):268-277. doi: 10.1093/europace/euab183

Cadrin-Tourigny J*, Bosman LP*, Nozza A, Wang W, Tadros R, Bhonsale A, Bourfiss M, Fortier A, Lie ØH, Saguner AM, Svensson A, Andorin A, Tichnell C, Murray B, Zeppenfeld K, van den Berg MP, Asselbergs FW, Wilde AAM, Krahn AD, Talajic M, Rivard L, Chelko S, Zimmerman SL, Kamel IR, Crosson JE, Judge DP, Yap SC, van der Heijden JF, Tandri H, Jongbloed JDH, Guertin MC, van Tintelen JP, Platonov PG, Duru F, Haugaa KH, Khairy P, Hauer RNW, Calkins H, Te Riele ASJM*, James CA*. A new prediction model for ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy. Eur Heart J. 2019;40:1850-1858.

James CA, Jongbloed JDH, Hershberger RE, Morales A, Judge DP, Syrris P, Pilichou K, Medeiros Domingo A, Murray B, Cadrin-Tourigny J, Deprez RL, Celeghin R, Protonotarios A, Astryan B, Brown E, Jordan E, McGlaughon J, Thaxton C, Kurtz CL, van Tintelen JP. An international evidence based reappraisal of genes associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) using the ClinGen framework. Circ Genom Precis Med. 2021;14:e003273 doi: 10.1161/CIRCGEN.120.003273

Bosman LP, Wang W, Lie ØH, van Lint FHM, Rootwelt-Norberg C, Murray BA, Tichnell C, Cadrin-Tourigny J, van Tintelen JP, Asselbergs FW, Calkins H, Te Riele ASJM, Haugaa KH, James CA. Integrating exercise into personalized ventricular arrhythmia risk prediction in arrhythmogenic right ventricular cardiomyopathy. Circ Arrhythm Electrophysiol. 2022;15:e010221. doi: 10.1161/CIRCEP.121.010221

Murray B, Tichnell C, Burch AE, Calkins H, James CA. Strength of the genetic counselor:patient relationship is associated with extent of increased empowerment in patients with arrhythmogenic cardiomyopathy (ACM). J Genet Counsel. 2022;31(2):388-397. doi: 10.1002/jgc4.1499

Contact for Research Inquiries

Johns Hopkins Hospital
600 N. Wolfe Street
Blalock 545, ARVC Program
Baltimore, MD 21287 map

Email me

Academic Affiliations & Courses

Graduate Program Affiliation

Johns Hopkins Bloomberg School of Public Health / National Institutes of Health Genetic Counseling Training Program Executive Committee member and thesis advisor:


Courses and Syllabi

  • Rotation supervisor, genetic counseling students. Teaching/modeling interface of research and clinical genetic counseling with students doing 8 or 16 week rotations
    University of Maryland

Activities & Honors


  • 2022 Zurich Arrhythmogenic Cardiomyopathy Clinical Science Research Prize, University of Zurich - ACM International symposium, 2022
  • National Society of Genetic Counselors Jane Engelberg Memorial Fellowship Award, 2014
  • Catalyst Award, Johns Hopkins University, 2019


  • Founding Member, Johns Hopkins / Kennedy Krieger Institute Genetic Counseling Consortium
  • National Society of Genetic Counselors (NSGC)
  • Member, Heart Rhythm Society (HRS)

Videos & Media

Lectures and Presentations

  • New Developments in Arrhythmogenic Cardiomyopathy - Risk stratification”
    Invited presentation, Venice Arrhythmias conference featured symposium, Venice, Italy (10/14/2022)
    HRS-VA joint symposium
  • International evidence based reappraisal of genes associated with arrhythmogenic right ventricular cardiomyopathy using the Clinical Genome Resource framework
    2022 Zurich Arrhythmogenic Cardiomyopathy Clinical Science Research Prize awardee invited presentation, 5th Zurich International Symposium on Arrhythmogenic Cardiomyopathies, Zurich, Switzerland (09/22/2022)
    University of Zurich
  • Scalable solutions for genetic counseling
    Invited presentation, NHGRI Genomic Medicine XIV meeting and workshop, Bethesda, Maryland (virtual) (09/01/2022)
  • Alternative models of delivering cardiac genetic counseling and care
    Invited presentation, Heart Rhythm Society Scientific Sessions, San Francisco, California (05/01/2022)
    Heart Rhythm Society
  • Genetic testing and counseling - Doing it right, doing it smart
    Invited presentation, American College of Cardiology Scientific Sessions, Washington DC (04/02/2022)
    American College of Cardiology
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