International Bicuspid Aortic Valve Consortium (BAVCon)
Hector I. Michelena, M.D., and colleagues are researching the genetics of bicuspid aortic valve disease. Dr. Michelena has requested samples from 300 Biobank participants with a history of bicuspid aortic valve disease and 300 Biobank participants without a history of bicuspid aortic valve disease. His goal is to improve the diagnosis and management of patients with bicuspid aortic valve disease. This project is part of a large, multisite international consortium.
Cardiac gene panel study
Michael J. Ackerman, M.D., Ph.D., is researching genetic variation of cardiac disease, including cardiomyopathies and cardiac arrhythmias. He has requested whole-exome sequencing data from Biobank participants. He is examining the rate of variation in genes associated with cardiac disease included on commercially available cardiac genetic tests. His goal is to highlight the impact of the potentially large background rate of rare variation in these genes' part of cardiac genetic tests and to determine whether any of these variants contribute to cardiac disease.
Genetic contributors to heart failure
Suzette J. Bielinski, Ph.D., is researching heart failure. Heart failure is a complex syndrome characterized by the inability of the heart to supply sufficient blood flow to the body. Understanding the cause of heart failure is challenging in that at least two distinct types exist that differ in their frequency, presentation and outcomes.
Because of this, Dr. Bielinski and colleagues have developed a set of rules to be followed to identify cases of heart failure using data from the electronic medical record. She will be reviewing medical record information from Biobank participants to determine whether this new set of rules may be of benefit in better defining patients with heart failure for future work.
Peripheral artery disease
Iftikhar J. Kullo, M.D., is researching genetic variants that may increase an individual's risk of a common circulatory problem in which narrowed arteries reduce blood flow to the arms and legs (peripheral artery disease, or PAD). He has requested samples from 1,000 Biobank participants without a history of PAD to compare with patients — recruited through a separate study — who have the disease.
Dr. Kullo is specifically studying genetic variations that he's identified through another study. His goal is to see which of these genetic factors may increase a person's risk of developing PAD so that they may be used to help predict or manage those at high risk.
Iftikhar J. Kullo, M.D., is also researching genetic risk factors involved with cardiorespiratory fitness, a measure of the ability to perform aerobic exercise. Impairment of cardiorespiratory fitness is associated with an increased risk of cardiovascular disease, type 2 diabetes and metabolic syndrome.
He has requested samples from 2,000 Biobank participants who have undergone a special type of exercise testing and is attempting to identify specific genes or DNA sequences that influence cardiorespiratory fitness. His goal is to improve the design of new drugs and develop new treatment strategies relevant to aging, insulin resistance and cardiovascular outcomes.
Sudden cardiac death
Suzette J. Bielinski, Ph.D., is researching causes of sudden cardiac death in patients who survive a heart attack (myocardial infarction). After a heart attack, nerves within the heart rewire as part of the healing process, and this may increase the risk of sudden cardiac death in some patients.
Proteins found in the blood may provide clues to the extent of nerve healing and therefore may be useful in predicting which patients who've had a heart attack may be at increased risk. To investigate these proteins, Dr. Bielinski has requested samples from 200 Biobank participants without a history of a heart attack to compare with patients — recruited through a separate study — who have had a heart attack.
Genetic variation and cardiovascular response
John H. Eisenach, M.D., is researching the effects of certain genetic alterations in the beta-2-adrenergic receptor gene and how these changes influence heart and blood vessel function under controlled levels of sodium in the diet. He has requested samples from 1,000 young Biobank participants without a history of heart disease or diabetes to determine whether they have specific genetic alterations in the beta-2-adrenergic receptor gene.
Those with these genetic changes may then be offered an opportunity to participate in further research studies with Dr. Eisenach's group to help determine the role this gene plays in cardiovascular disease.
New enzyme and its role in heart failure
Frank V. Brozovich, M.D., Ph.D., is studying a recently discovered enzyme thought to play a role in heart failure. He has requested 400 Biobank samples: 200 from participants believed to have heart failure and 200 from participants with no evidence of heart failure.
Dr. Brozovich will compare blood levels of the enzyme renalase in these groups. His aim is to determine whether renalase levels can help predict outcomes of heart failure and, ultimately, to look for new drugs to treat heart disease.
Genetic evaluation of cardiovascular disease risk
Iftikhar J. Kullo, M.D., is researching communication of genetic risk of coronary heart disease and how it affects participant motivation to make lifestyle changes such as increased exercise and decreased dietary fat intake. He has requested DNA samples from 1,300 Biobank participants who do not have a history of coronary artery disease, peripheral arterial disease, abdominal aortic aneurysm and statin use.
Genetic testing of coronary heart disease risk will be performed and communicated to some of the study participants, and participants will be assessed for motivation to make lifestyle changes. This study is also a pilot investigation about including genetic information in participants' electronic medical record.