Genotype-Phenotype Correlation in Cardiovascular Disease


About this study

This research study is being done to help characterize cardiovascular disease and improve diagnostic tests.


  1. To understand the pathogenesis, molecular mechanisms, and disease progression of heritable cardiovascular disease

  2. To evaluate the incidence of occult heritable cardiovascular disease in various populations.

  3. To correlate imaging and pathological phenotype with genotype to the ends described above.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

  • Patients/decedents must have cardiovascular disease that is clinically, radiologically or pathologically identified.

  • Prospectively identified patient is willing to undergo session(s) with a genetic counselor (GC) to discuss results, should they be relevant to their medical care.

  • Prospectively identified patients must understand and provide written informed consent and HIPAA authorization prior to enrollment in the study.

    • If the patient or family member who is being enrolled is not English speaking, the approved institutional procedures for interfacing with non-English speaking prospective subjects who are not specifically targeted for the project. This includes:

      • Having an independent medical interpreter provide an oral explanation (in person or by phone) of the entire content of the English version of the approved consent document to the prospective subject or the legally-recognized next-of-kin.

      • Using the IRB's written Short Form / Authorization to Use and Disclose Protected Health Information form, stating that the elements of informed consent have been presented orally. A short form that has be translated into a language understandable to the subject will be provided.

      • Having a witness, who might be the interpreter, to the oral presentation who is conversant in both the English language and the language of the prospective subject.

      • Making certain that the prospective subject or his/her representative has signed the translated Short Form/Authorization to Use and Disclose Protected Health Information form.

      • Making certain that the witness has signed both the translated Short Form and a copy of the English consent document.

      • Making certain that the person obtaining consent has signed a copy of the English consent document.

      • Making certain a copy of the translated Short Form and a copy of the English consent document are given to the prospective subject or the prospective subject's representative.

Exclusion Criteria:

  • Patients with psychiatric illness or social situations that would limit compliance with the study requirements or the ability to provide, willingly, written informed consent.

  • Women who are pregnant at the time of surgery.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Joseph Maleszewski, M.D.

Open for enrollment

Contact information:

Jenna Capelle

(507) 266-5017

More information


Publications are currently not available