Michael J. Ackerman, M.D., Ph.D.

The purpose of this study is to elucidate the genetic basis of aBiMVP in hopes of determining novel mechanisms that underlie aBiMVP pathogenesis.

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.

This study is being done to identify underlying genetic defects in individuals from families who are at-risk of a possible cardiac channelopathy (abnormal electrical signals in the heart).

The purpose of this study is to:

1. To describe the clinical presentation of patients with resistance to local anesthetics.

2. To consent subject for a blood draw and send the sample to local BAP core facility for DNA isolation.

3. To send the DNA sample to the Sequencing Core at Mayo Rochester to sequence the participants’ exome including the sodium channel genes.

4. Analyze the patient’s and family members’ whole exome sequence to identify novel mutations associated with the patient’s clinical presentation.

The purpose of this study is to derive and characterize patient-specific disease models for sudden death-predisposing heritable channelopathies and cardiomyopathies using iPS-cell technology.  It is hoped that the molecular, cellular, and electrophysiological phenotypes of these in-vitro disease models will further elucidate the pathophysiologic mechanisms underlying these sudden death-associated conditions.

The postnatal diagnosis of Long QT Syndrome (LQTS) is suggested by a prolonged QT interval on 12 lead electrocardiogram (ECG),a positive family history and/or characteristic arrhythmias and confirmed by genetic testing.  LQTS testing cannot be performed successfully before birth as   fetal ECG is not possible and direct measure of the fetal QT interval by magnetocardiography is limited. Genetic testing can be performed in utero, but there is risk to the pregnancy and the fetus. Although some fetuses present with arrhythmias easily recognized as LQTS (torsade des pointes (TdP) and/or 2° atrioventricular (AV) block, this is uncommon, occurring in <25% of fetal LQTS cases. Rather, the most common presentation of fetal LQTS is sinus bradycardia, a subtle rhythm disturbance that often is unappreciated to be abnormal. Consequently, the majority of LQTS cases are unsuspected and undiagnosed during fetal life, with dire consequences. For example, maternal medications commonly used during pregnancy can prolong the fetal QT interval and may provoke lethal fetal ventricular arrhythmias. But the most significant consequence is the missed opportunity for primary prevention of life threatening ventricular arrhythmias after birth because the infant is not suspected to have LQTS before birth. The over-arching goal of the study is to overcome the barriers to prenatal detection of LQTS. The investigators plan to do so by developing an algorithm using fetal heart rate (FHR) which will discriminate fetuses with or without LQTS. Immediate Goal: The investigators propose a multicenter pre-birth observational cohort study to develop a Fetal Heart Rate (FHR)/Gestational Age (GA) algorithm from a cohort of fetuses recruited from 13 national and international centers where one parent is known by prior genetic testing to have a mutation in one of the common LQTS genes: potassium voltage-gated channel subfamily Q member 1 (KCNQ1), potassium voltage-gated channel subfamily H member 2 (KCNH2), or sodium voltage-gated channel alpha subunit 5 (SCN5A). The investigators have chosen this population because 1) These mutations are the most common genetic causes of LQTS, and 2) Offspring will have high risk of LQTS as inheritance of these LQTS gene mutations is autosomal dominant. Thus, progeny of parents with a known mutation are at high (50%) risk of having the same parental LQTS mutation. The algorithm will be developed using FHR measured serially throughout pregnancy. All offspring will undergo postnatal genetic testing for the parental mutation as the gold standard for diagnosing the presence or absence of LQTS.

The purpose of this study is to collect and review the Mayo Clinic experience with left cardiac sympathetic denervation (LCSD) in patients with heritable arrhythmias syndromes or refractory ventricular arrhythmias beginning in 2000.

The purpose of this study is to compare the rate of arrhythmia-induced events between paediatric Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) patients with and without implantable cardioverter defibrillator (ICDs), and to determine the quality of life and psychosocial functioning of paediatric CPVT patients with and without ICDs.

The aim of this study is to determine the worldwide prevalence of Triadin Knockout Syndrome (TKOS), and to better define the phenotype of patients with the disease. This information will provide additional insight into which phenotypic markers may be specific to TKOS, and will also help to develop better TKOS specific treatment strategies.

This study will evaluate the effect of GS-6615 on exercise capacity, quality of life, and safety and tolerability of GS-6615 in participants with symptomatic hypertrophic cardiomyopathy (HCM).

The purpose of this study is to evaluate the safety, tolerability and effectiveness of eleclazine for shortening  the corrected QT interval in adults with type 3 long QT syndrome.

The purpose of this study is to measure the effect on ventricular ectopy, safety, tolerability and pharmacokinetics of S48168 (ARM210) compared with placebo in participants with Type 1 Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT1).

The purpose of this study is to obtain full phenotypic information on all patients diagnosed with Congenital Long QT Syndrome and seen in the Mayo Clinic Long QT Clinic.   

The purpose of this study is to evaluate the accuracy of wireless multi-lead AliveCor device, in seated and supine position, with traditional ECG and to evaluate the accuracy of the wired multi-lead AliveCor device, in seated and supine position, with traditional EDG.

The goal is to determine how lifestyle and exercise impact the well-being of individuals with hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS).

The purpose of this study is to specify, develop, and evaluate a diagnostic algorithm suitable for use in an inexpensive diagnostic instrument suitable for screening for LQTS in the primary care environment.

The purpose of this study is to evaluate diagnostic accuracy of the EKO DUO System in patients with Genetic Heart Diseases and develop novel algorithms to diagnose these conditions. The device will be placed on the chest (similar to a stethoscope exam) and will simultaneously record an ECG and phonocardiogram (PCG) for up to 120 seconds. Additional data obtained will include clinical characteristics, past medical history, recent medications and procedure, laboratory data, and echocardiographic and ECG studies.

Tools like the EKO Duo device can be used to improve diagnosis and risk stratification in patients with genetic heart diseases (GHDs).

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

The purpose of this study is to understand the logistical aspects and the barriers that athletes with cardiovascular disease have faced in the process of returning to play, to understand the decision-making process that occurs among athletes, their families, medical professionals, and the school/club administration in choosing to return to the field, and to understand the contingency/emergency plans in the athletes who returned to play.

This study will determine if the use of multimedia in the form of video running simulation and music to current exercise testing protocols will increase maximal exercise testing in children.