Genetic Heart Rhythm Diseases

Welcome to the Genetic Heart Rhythm Diseases page. The Mayo Clinic Windland Smith Rice Genetic Heart Rhythm Clinic, with the Windland Smith Rice Sudden Death Genomics Laboratory in Rochester, MN, is dedicated to diagnosing, treating, and researching all types of genetic heart rhythm diseases that can cause sudden death.

Follow the Genetic Heart Rhythm Diseases page and stay up-to-date as we post stories, clinical trials, and useful information regarding your genetic heart rhythm condition.

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Mayo Clinic's Windland Smith Rice Sudden Death Genomics Laboratory under the direction of genetic cardiologist and scientist, Michael J. Ackerman, M.D., Ph.D., conducts clinical research devoted to understanding the implications and applications of genetics and genomics of genetic heart rhythm diseases (GHDs).

In the laboratory, our team of research scientists, research technicians, and trainees utilize state-of-the-art techniques to search for the following of these conditions:

  • Genetic causes
  • Functional implications
  • Genotype-phenotype correlations
  • Potential treatments
  • Outcomes

Our research team, which is affiliated with the Departments of Cardiovascular Medicine, Pediatric and Adolescent Medicine, and Molecular Pharmacology & Experimental Therapeutics, has made numerous discoveries in the field of GHDs, including both the cardiac channelopathies and the cardiomyopathies, resulting in over 500 peer-reviewed papers in high impact factor journals.

Because these conditions sometimes  (albeit rarely) present with sudden cardiac death as the sentinel (first) event, for which the underlying cause is often not detected in a standard autopsy, the Windland Smith Rice Sudden Death Genomics Laboratory pioneered the molecular autopsy over 20 years ago (1999) and performs  postmortem genetic testing for sudden unexplained death (SUD), unexplained drowning, and sudden infant death syndrome (SIDS).

In 2019, the Windland Smith Rice Sudden Death Genomics Laboratory teamed up with the Center for Individualized Medicine and the Department of Laboratory Medicine and Pathology (DLMP) to provide medical examiners, coroners, and forensic pathologists throughout North America a truly comprehensive cardiac autopsy for unexpected sudden death victims.

The Windland Smith Rice Sudden Death Genomics Laboratory works in conjunction with the Genetic Heart Rhythm Clinic to conduct its clinical translational research efforts devoted to identifying people at greatest risk of sudden death. Additionally, over the years we have built relationships and successful collaborations with colleagues at Mayo Clinic as well as experts in the same field across the world to further our understanding of these diseases.

Ongoing Prospective Studies

We have several studies that our patients can participate. The majority of our research participants are identified during their clinical visit in the Genetic Heart Rhythm Clinic. If you have a visit scheduled, you will more than likely be invited to participate in one or more of these studies while you are here.

We are currently enrolling patients for the following studies:

Patient-Specific Induced Pluripotent Stem Cell (iPSC) Models for Heritable Channelopathies and Cardiomyopathies (IRB ID: 09-006465)

  • The purpose of this study is to derive and characterize patient-specific disease models for sudden death-predisposing heritable channelopathies and cardiomyopathies using iPSC (stem cell) technology. For additional information regarding this study, please view this YouTube video titled A Piece of My Heart, From My Arm.
  • Status: Enrolling

Molecular and Functional Basis of Human Cardiac Ion Channelopathies: Genomic Evaluation of At-Risk Syndrome – Long QT Syndrome, Brugada Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, Idiopathic Ventricular Fibrillation, Drug-Induced Torsades de Pointes/Cardiac Arrest, Sudden Unexplained Death Syndrome, Sudden Infant Death Syndrome, and Unexplained Drownings (IRB ID: 1216-97)

  • The purpose of this study is to identify novel (previously unknown) genetic causes for families with LQTS, BrS, CPVT, IVF, TdP, SUDS, SIDS and Unexplained drownings.
  • Status: Enrolling

Genotype-Phenotype Correlations of Primary Genetic Cardiomyopathies: Molecular and Functional Basis of Familial Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, Left-Ventricular Non- Compaction, Ebstein’s Anomaly, Restrictive Cardiomyopathy (RCM), Sarcoidosis, and Bicuspid Aortic Valve (IRB ID: 811-98)

  • The purpose of this study is to identify novel (previously unknown) genetic causes for families with HCM, ARVC/ACM, LVNC and RCM.
  • Status: Enrolling

Clinical Phenotype of Patients Seen in Mayo's Genetic Heart Rhythm Clinic (Prospective) (IRB ID: 16-008436)

  • The purpose of this study is to obtain information on all patients seen in Mayo Clinic's Genetic Heart Rhythm Clinic
  • Status: Enrolling

Measuring the QTc with the AliveCor Device (IRB ID: 17-006751)

  • The purpose of this study is to assess the feasibility of using the current FDA-approved AliveCor Kardia device and their AliveCor Tripod device (FDA Approval pending) to measure the QT/QTc in patients presenting to the Genetic Heart Rhythm Clinic.
  • Status: Enrolling

Phase II Novel Low Cost QTc Meter for Long QT Syndrome Screening in Primary Care (IRB ID: 18-006014)

  • The purpose of this study is to further develop and evaluate a diagnostic procedure suitable for use with an inexpensive diagnostic instrument suitable for screening for Long QT Syndrome (LQTS) in the primary care environment.
  • Status: Enrolling

Prospective Identification of Long QT Syndrome in Fetal Life (IRB ID: 16-004930)

  • The purpose of this study is to overcome the barriers to prenatal detection of LQTS due to limitations of fetal ECG is not possible and direct measure of the fetal QT interval by magnetocardiography is limited.
  • Status: Enrolling

Quality of Life with Cardiac Sympathectomy (IRB ID: 12-003621)

  • The purpose of this study is to study the post-operative quality of life of patients following video assisted left cardiac sympathetic denervation (LCSD) surgery for cardiac rhythm disorders.
  • Status: Enrolling

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