Supporting Families. Saving Lives.
Study Objective Genetics of Cardiac Arrhythmias is an ongoing study with the primary objectives of advancing the characterization of the genetic and clinical aspects of inherited arrhythmia syndromes and inherited cardiomyopathies (CM).
For the purpose of this study, we are focusing on specific inherited arrhythmia syndromes such as:
(1) long QT syndrome (LQTS);
(2) short QT syndrome;
(3) Brugada syndrome;
(4) Cathecholaminergic Polymorphic Ventricular Tachycardia (CPVT);
(5) early repolarization; and
(6) other hereditary arrhythmia syndromes that present as heart failure symptoms of uncertain etiology.
Inherited cardiomyopathies included in this study are conditions such as:
(7) Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C);
(8) Hypertrophic Cardiomyopathy (HCM);
(9) Dilated Cardiomyopathies (DCM); and
(10) Other less common familial cardiomyopathy phenotypes.
Study Focus To achieve these objectives, this study will focus on:
(1) Collecting clinical and genetic data on patients with one of the inherited arrhythmia syndromes or cardiomyopathies listed above into a relational database suitable for data mining;
(2) Expanding our knowledge of the genotypic variations that confer risk of cardiac arrhythmias, cardiomyopathies, and/or heart failure symptoms, beyond the genetic variants that are already known to cause the inherited conditions listed above; and
(3) Determining the functional consequences of these mutations on the genesis of inherited cardiac diseases.
Who Can Take Part in This Study? Approximately 400 subjects will be enrolled in this study. Adults of either sex and of any race may participate in this study. In particular, this study is seeking participants who: • Exhibit a history of palpitation, syncope, or aborted sudden cardiac death (SCD) without structural cardiac disease; or • Have been diagnosed with one of the above mentioned arrhythmias; or • Are family members of a person with one of the above mentioned arrhythmias. To participate in this study contact the following: Dr. Melvin Scheinman/ Principal Investigator Phone: 415-476-5708 Joan Carroll/ Study Coordinator Phone: 415-476-5409 For more information, visit the study website : http://pages.medicine.ucsf.edu/ccgap