genetics of cardiac arrhythmias study

Study Objective
Genetics of Cardiac Arrhythmias is a 4-year study with the primary objective of advancing the characterization of the genetic and clinical aspects of six inherited genetic arrhythmias syndromes:
•    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C)
•    Brugada Syndrome
•    Long QT Syndrome (LQTS)
•    Short QT Syndrome
•    Catecholamine-induced Polymorphic Ventricular Tachycardia (CPVT)
•    Other hereditary arrhythmia syndromes that present as aborted sudden death of unknown etiology.
Study Focus
To achieve the primary objective, this study will focus on:
•    Collecting clinical and genetic data on patients with one of the 6 inherited genetic arrhythmia syndromes listed above into a relational database suitable for data mining;
•    Expanding our knowledge of the genotypic variations that confer risk of cardiac arrhythmias and SCD beyond the genetic variants that are already know to cause the genetic arrhythmia syndromes listed above; and
•    Determining the functional consequences of these mutations on the genesis of cardiac arrhythmias.
Who can take part in this study?
Approximately 400 subjects will be enrolled in this study over the next 4 years.  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.
 
 
What will subjects be asked to do as part of this study?
A clinical diagnosis of one of the heart rhythm disorders is needed in one of the family members BEFORE potential subjects can enroll in the study.  The study team will ask for records of the clinical tests the doctors used, including clinical genetic counseling or clinical genetic testing (if available), to help make the diagnosis in that family.
Should a subject be qualified to enroll and decide to do so, they will be expected to provide a DNA sample (blood draw or saliva specimen) to the study's researchers for research genetic analysis.  They will also be asked to speak with a genetic counselor.  We anticipate it will require about 10 minutes of their time for the DNA sample and about 1.5 hours for genetic counseling.  Their sample, and the information learned from it will be stored at UCSF and used to further knowledge about how to diagnose and treat cardiac arrhythmias.  Results of the research genetic analysis will be shared with the subject and the subject's physician if requested by the subject or if deemed medically necessary.  Only study team members will have access to study information.  Any information used for publication will not contain any information that could personally identify a subject.
 
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