Areas of Research Cardiovascular Genetics

Aortic Disease Research

The Cardiovascular Genetics Clinic team is conducting research in patients with Marfan syndrome and related disorders to help determine how best to predict adverse events in young people with these disorders, and how best to improve outcomes.

Families with Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, Turner syndrome, bicuspid aortic valve with aortic dilation, familial thoracic aortic aneurysm and dissections, or carriers of genes causing any of the above may be eligible for one or more of our studies.  For more information, please contact the Cardiovascular Clinical Research Core at 832-826-2064 or sandrea@texaschildrens.org


Genetic Arrhythmia Disorders Research

The Cardiovascular Genetics Arrhythmia team is actively involved in conducting research studies into disorders that cause arrhythmias and sudden death. Our program is funded through the National Institutes of Health (NIH) and includes both young children, adults and all family members with any arrhythmia conditions. The purpose of the study understand the clinical course,  improve the treatment, life-style, psychological well-being and improve outcomes. In some patients, the diagnosis cannot be determined. The study seeks to help identify the cause and diagnosis for these families. To hear more about our program, please contact us at 832-826-5650 or email sara.stephens@bcm.edu

  • Long QT Syndrome
  • Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
  • Brugada Syndrome
  • Arrhythmogenic Cardiomyopathy/Arrhythmogenic Right Ventricular Dysplasia (ARVD)
  • Hypertrophic Cardiomyopathy
  • Left-ventricular Noncompaction


TANGO2 Research

TANGO2 disorder is a neurodevelopmental disorder caused by mutations in the TANGO2 genes, discovered by Dr. Lalani and the Baylor team. They are susceptible to stress (such as illness/fever or fasting/poor eating) which can result in metabolic crisis events and cardiac arrhythmias. Children often begin to display symptoms within the first 2 years of life, most commonly delays in developmental milestones and speech. Children have periodic “spells” that include fatigue, staring off and difficulty with balance (“ataxia”) , sometimes falling over. Dr. Miyake is leading the natural history study and is enrolling patients around the world. Texas Children’s Hospital has an established team of doctors and scientists here to help manage patients and pursue research into this disease. All patients with TANGO2 disorder are followed in the cardiovascular genetics arrhythmia clinic and will be seen by a multi-disciplinary team that includes neurology, endocrinology, nutrition, developmental specialist, and metabolic genetics. The TANGO2 team is supported by the TANGO2 Research Foundation. This website has links to several resources for families.  http://tango2research.org

Research includes a worldwide natural history study lead by the TANGO2 team and translational studies both cellular and mouse models. The Zhang lab is using induced patient derived pluripotent stem cells (IPSC) to create heart cells from TANGO2 affected patients to study arrhythmias and heart failure. Knock-out mouse models are also being used to study this disease. To hear more about our TANGO2 research program, please contact us at 832-826-5650 or email mahshid.azamian@bcm.edu

Sudden Death Research

The Cardiovascular Genetics Arrhythmia team is involved in conducting research in diseases that lead to cardiac arrest and unexplained sudden death.  Our team will evaluate children, adults and families who have suffered a cardiac arrest or who have lost a loved one where the death was unexpected and the autopsy suggests a heart related condition or cannot determine a cause.  We are actively enrolling patients and family members and collaborate with basic lab scientists to help discover the causes of sudden death disorders.  Research is supported by the Skaggs Family who have established a charity fund in their son’s memory,  “God’s Angel Ray Skaggs” also known as the Baby Ray Fund.  To hear more about our program, please contact us at 832-826-5650 or email sara.stephens@bcm.edu

To learn more about the Ray and the Skaggs family please see their website here.

John Welsh Cardiovascular Diagnostic Laboratory

The John Welsh Cardiovascular Diagnostic laboratory offers state-of-the-art molecular diagnostic testing for cardiovascular diseases and rapid molecular testing of heart tissue, lung tissue and other organ specimens and bodily fluids for viruses. These tests are focused specifically for viruses identified as causing heart disease in children and adults as well as in the fetus.

The laboratory also offers genetic testing for DNA mutations associated with cardiac disease. This close relationship between the research and the diagnostic laboratories allows us to identify novel disease-associated genes and mutations in the research laboratory and transfer this knowledge directly to the patient through the diagnostic laboratory, allowing “bench-to-beside” service.