Genetic Investigations in Hypoplastic Left Heart Syndrome


  • Study type

  • Study IDs

  • Describes the nature of a clinical study. Types include:

    • Observational study — observes people and measures outcomes without affecting results.
    • Interventional study (clinical trial) — studies new tests, treatments, drugs, surgical procedures or devices.
    • Medical records research — uses historical information collected from medical records of large groups of people to study how diseases progress and which treatments and surgeries work best.
  • Site IRB
    • Rochester, Minnesota: 11-000114
    Sponsor Protocol Number: 11-000114

About this study

The primary objective of the study is to utilize comprehensive, family-centered genomic screening strategies - chromosomal microarray (CMA) and whole genome sequencing (WGS) - to discover the genetic bases for Hypoplastic Left Heart Syndrome (HLHS), a severe type of congenital heart disease characterized by underdevelopment of left heart structures.

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. If you need assistance understanding the eligibility criteria, please contact the study team.

See eligibility criteria

Inclusion Criteria:

  • Mayo Clinic patients of all ages (newborns to adults) diagnosed with HLHS will be identified both retrospectively (by diagnostic codes) and prospectively, and recruited following informed, written consent. DNA will be extracted from whole blood or saliva for CMA and WGS.
    • Parents and siblings of the index case will be invited to participate by consenting to a screening echocardiogram and sample procurement for DNA extraction for WGS. Selected members of the extended family with congenital heart disease of any type will be contacted via a form letter to invite their participation in the study, which would include providing a copy of cardiac imaging reports and sample procurement for DNA extraction for WGS.
  • Non-Mayo subjects would participate by providing a blood or saliva sample for WGS only.

Participating Mayo Clinic locations

Study statuses change often. Please contact us for help.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Timothy Olson, M.D.

Open for enrollment

Contact information:

Brenda Speltz CCRP


More information


Publications are currently not available

Study Results Summary

Not yet available

Supplemental Study Information

Not yet available


Mayo Clinic Footer