The Todd and Karen Wanek Family Program for Hypoplastic Left Heart Syndrome (HLHS) is a collaborative network of specialists bonded by the vision of delaying or preventing heart failure for individuals affected by congenital heart defects including HLHS. The specialized team is addressing the various aspects of these defects by using research and clinical strategies ranging from basic science to diagnostic imaging to regenerative therapies.
Contact the program at HLHS@mayo.edu.
Welcome to the umbilical cord blood collection resource page! We hope that you, as providers, will find the video below a very helpful resource in collecting umbilical cord blood for the HLHS clinical trial. If you have any questions, please feel free to contact us at firstname.lastname@example.org.
To participate in the research that is changing the future for individuals with HLHS, contact our program by emailing us at HLHS@mayo.edu.
Genetics: The goal of this study is to identify abnormal genes that may cause the underdevelopment of the left ventricle. We analyze the DNA of the HLHS patient, their immediate family members, and sometimes extended family members. This is done by collecting a blood sample from each participating family member.
Imaging: This study uses echocardiogram and MRI images to assess the function of the right ventricle. An HLHS patient has an echocardiogram and/or MRI, X-ray, and clinical exam performed by a pediatric cardiologist and an echocardiogram is done on the biological parents and siblings. All of the imaging findings are made available to you and the HLHS patient’s home cardiologist.
Regenerative Strategies: Participation in this study involves collecting a small piece of discarded skin tissue when there is a clinically planned surgery, or from a skin punch biopsy. The goal is to "reprogram" the skin cells into cardiac tissue. We are collecting tissue from the patient with HLHS, both biological parents, and eligible siblings (age dependent).
Thank you to all who attended our fourth annual Feel the Beat event on Saturday, October 8. It was a fun-filled day focused on collaboration that brought together patients, families, advocates, researchers, and doctors from over 15 different states. Some of the highlights from the day include learning firsthand about the exciting research taking place during the research science fair, hearing from inspiring and informative guest speakers (Meagan Broucek, Christina DeShaw, Kelly DiMaggio, and Stacey Lihn), and learning about how the future of HLHS is transforming as new collaborations are being formed. For those of you who were unable to attend either in person or online, you can watch the speakers below.
Thanks to all who attended to make our fourth annual Feel the Beat event the best one yet! See you next year at the fifth annual Feel the Beat event on October 14, 2017!
The Todd and Karen Wanek Family Program for Hypoplastic Left Heart Syndrome (HLHS) is a collaborative network of specialists bonded by the vision of delaying or preventing heart failure for individuals affected by congenital heart defects including HLHS. As pioneering surgeries and evolving medical practices have dramatically changed the outlook for children with HLHS in the past two decades, many young adults have now successfully overcome the challenges of reconstructive heart surgeries. The emerging obstacles now drive our team with a new focus and purpose to transform treatment options.
We are a multidisciplinary research team devoted to finding better solutions for individuals affected by HLHS. Our team includes physicians, scientists, study coordinators, project managers, laboratory personnel, and administrative partners. Led by Dr. Timothy Nelson, a physician/scientist in the Transplant Center with a passion for stem cell-based applications. Other programmatic leadership includes Dr. Timothy Olson, a pediatric cardiologist with a strong track-record in the genetics of heart disease, Dr. Patrick O’Leary, a pediatric cardiologist who specializes in cardiac imaging of congenital heart disease, and Dr. Andre Terzic, director of the Center for Regenerative Medicine who has pioneered clinical applications for stem cells in cardiac repair. Collectively, our goal is to determine the genetic cause of HLHS, predict lifetime function of the right ventricle, and develop a regenerative solution to keep the right ventricle healthy throughout life.
Your unborn baby has been diagnosed with Hypoplastic Left Heart Syndrome. What does this mean for your baby and your family?
Q. What is Hypoplastic left heart syndrome (HLHS)?
A. HLHS is a rare heart defect, affecting 1,000 newborns each year in the United States, in which the left side of the heart is severely underdeveloped, and the right side of the heart must pump blood to both the lungs and the body. The defect occurs during fetal growth and currently cannot be prevented.
In a healthy heart, the right side of the heart accepts blood from the rest of the body and pumps it to the lungs while the left side of the heart accepts blood from the lungs and pumps it to the body.When the left side of the heart is underdeveloped, the right side must perform both functions, pumping blood to the lungs and to the body.
During the first few days after a baby is born, the right side of the heart is able to do the job of both the right and left sides because of two processes. The first is through an opening, known as the foramen ovale, by which the blood flowing through the lungs can return to the right heart. The second process is by a blood vessel connecting the pulmonary artery to the aorta, known as ductus arteriosus, that allows the right side of heart to pump blood to the body in addition to the lungs. The majority of the time, the foramen ovale and ductus arteriosus close after a few days, leaving the heart with no way to pump the blood to the rest of the body.
Q. What causes HLHS?
A. At this time, the cause of HLHS is unknown and there is nothing to prevent it. The birth defect occurs in utero while the baby is developing. There is a very slight increased risk (less than ten percent) that families who have one child born with HLHS will have another child born with a heart defect.
Q. How is HLHS diagnosed?
A. Doctors will use an echocardiogram, also known as an ultrasound, to diagnose the heart defect. HLHS is often diagnosed in utero using a fetal echocardiogram.
Q. Will my baby need surgery?
A. Doctors will determine the exact treatment for your baby depending on the severity of the heart condition and the family’s wishes. The only treatment for HLHS is aggressive, early surgical intervention. The most common approach involves a three-stage surgical procedure. The operations are performed within the first few years of life and create reliable blood flow in and out of the functional heart chambers.
Stage 1: Norwood Procedure
The Norwood procedure is performed within the first few days of life to allow the heart’s lower right chamber, known as the right ventricle, to pump blood to the lungs and the body.
The Glenn (or hemi-Fontan) procedure usually takes place between four and six months of a child’s life. The surgery reduces the amount of work the right side of the heart does by allowing it to pump blood mainly to the body and routing part of the blood returning from the body directly into the lungs.
Stage 3: Fontan Procedure
The Fontan procedure is performed on patients between 18 and 48 months old to connect the remaining blood vessels carrying blood from the body to the lungs. The purpose of this surgery is to allow the blood coming from the body to go directly to the lungs, normalize the oxygen levels, and reduce the right ventricle workload to the approximate levels of a normal heart.
Q. What happens after surgery?
A. After surgery, HLHS children need long-term surveillance of the reconstructed heart and often require heart medications. Regular appointments with a cardiologist will include echocardiograms, MRIs, blood tests, and heart catheterizations to ensure close monitoring of your child’s growing heart.
Q. What are the long term impacts of HLHS?
A. While science has made remarkable steps in treating patients with HLHS there is still no cure. Most patients will survive with treatments but may face other complications later in life. Some of these complications include heart arrhythmias, blood clots, developmental problems, and the possibility of future surgeries or a heart transplant. For more on this subject, please visit here.
Q. Are there new scientific advances that will help my baby in the future?
A. At the Mayo Clinic, we are making advancements to find new ways to treat HLHS through the use of four connected objectives: cell-based treatments, imaging and outcome, human genetics, and the creation of a biorepository. These advancements may delay and even prevent heart transplants for people with HLHS.
Researchers believe stem cells can increase the strength of the heart, enabling it to pump blood through the body with greater power. By using cell-based therapies, team members are working to make the heart muscle stronger. This approach could possibly restore the right ventricle’s functional ability once it begins to decline or prevent the decline altogether.
The Todd and Karen Wanek Family Program for HLHS has initiated clinical trials offering the latest advances in cell therapy to people with HLHS. The goal of the trials is to determine how stem cells derived from different sources in the body, delivered at different times, can help HLHS children. Inone clinical trial, umbilical cord stem cells are collected after birth and delivered directly into the heart muscle or intravenously during the Glenn procedure. Another clinical trial uses stem cells from a skin sample to be changed into heart-like cells. (Check out Nightline’s Bill Weir’s experience.)
Another use of stem cells includes comparing reprogrammed stem cells from children with HLHS and their unaffected parents to determine molecular differences in order to understand how HLHS develops.
Imaging and Outcomes
To better understand HLHS and the predictors of long-term right ventricular performance, researchers are comparing medical histories of HLHS patients by using ultrasounds and MRI images of their hearts. In addition, researchers are also improving the ability to assess right ventricular function noninvasively to detect declines in cardiac function as soon as possible so they can intervene in a timely manner.
HLHS is likely caused by abnormal genes that result in the underdevelopment of the heart’s left ventricle. While those genes are currently unknown, researchers are analyzing whole-genome sequencing and bioinformatics to search for HLHS genetic variations. They are also attempting to detect changes in chromosomal material in people with HLHS.
By working with families to collect family histories, tissue and cell samples, genomic information and heart images of HLHS patients and their relatives, researchers are studying HLHS and creating a biorepository. The biorepository includes clinical and genetic data, as well as tissue and other physical specimens used to further study HLHS and to explore new treatment options.
The goal of the Todd and Karen Wanek Family Program for Hypoplastic Left Heart Syndrome is to translate hope into solutions by offering the latest advancements to people with HLHS with the ultimate goal of delaying, or even preventing, heart failure.
Every dollar of your tax-deductible gift to the Todd and Karen Wanek Family Program for Hypoplastic Left Heart Syndrome funds lifesaving research, outstanding patient care and critical medical education.
If you would like to make a donation by phone or if you have any questions, please call 855-852-8129.