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What does participation in the registry involve?

Participation is completely voluntary. To study the possible connection between TOF and a potential genetic cause, we are asking participants to provide the following:

  • A sample of DNA for genetic analysis. This DNA sample can be taken from blood, saliva, or tissue. We will try to take this sample during a scheduled procedure such as catheterization or an operation.
  • Information regarding your/ your child's medical history. This information is typically gathered through personal interviews and review of medical records.
  • Information regarding family medical history. A genetic counselor will ask questions about the health history of relatives, including children, siblings, parents, aunts, uncles, cousins, grandparents and possibly other family members. A family history typically takes 30-45 minutes to complete. For more information on how to document your family history, please go to Genetic Resources.
  • You / your child may be asked to undergo a physical examination, electrocardiogram (EKG), and echocardiogram to document heart structure and function, although this is not a requirement for participation. These additional evaluations are typically not done in families where there is only one individual with congenital heart disease.
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This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

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The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
- Sandra L. Fenwick, President and CEO