Genetic Investigations in Hypoplastic Left Heart Syndrome


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. 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:

  • 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 the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Timothy Nelson, M.D., Ph.D.

Closed-enrolling by invitation

What is this? (?)
Not open to everyone who meets the eligibility criteria, but only those invited to participate by the study team.

Contact information:

Karen Miller CCRP

(507) 266-5510

More information


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