Sharing is Caring...

I remember the exact second when I first heard the words - your baby has a heart defect. There is no doubt in my mind that I had the deer in the headlights look on my face. In one instant, everything had changed, and as I reflect on that moment in time, I am certain that right then I began the grieving process for my unborn child.  Those feelings lasted throughout the rest of my pregnancy, and were pitted against my feelings to fight for my baby's survival.

I see that same look on parents’ faces all too often in my line of work. My professional position centers me in high risk OB where we care for the pregnant mothers of future heart babies. Being a parent of a child with HLHS, and working where I do, does not automatically qualify me as a person to consult with. I very rarely share my personal story with the patients I meet for research studies. Like most do when working in a clinical setting, I try to maintain a separation between work and home, but every now and then I meet parents that are in such duress I am compelled to offer a glimmer of hope, and I do so very carefully. If you are a parent of a child with HLHS, and your child has been through the staged surgeries, then you understand why it is important to be guarded with your experiences. They are often too much for a future HLHS parent to bear, and outcomes are very different for each child. But our experiences have put us into a very unique position, and as a member of several heart groups where I often meet newly diagnosed parents, I hear a lot of questions from parents, many of the same questions I once had myself. So I share what I've learned.

What surprises me today is hearing from parents their story of diagnosis, and how pregnancy termination is offered as an option, as HLHS is considered a lethal anomaly. Meaning, pregnancy termination can be administered in the hospital setting as a medical termination based on lethal anomaly. Please note that I am in no way judging anyone who chooses this option - my focus is on the terminology - lethal anomaly. A diagnosis of HLHS is no longer a bleak prognosis so it is difficult for me to acknowledge that it is a lethal anomaly. It is if no course of action is taken, but through staged palliation or heart transplant, the survival rate is very good at 90-95% and 80% respectively.  

I often have heart parents in the early stages of palliation ask me questions about my older HLHS child.  This is said of many experienced heart parents. So how did we become the “experts?” By default I suppose. Who better to talk to about everyday life with a heart baby than a parent who has been through it?  And I like the idea of sharing. I like that parents feel the comfort and reassurance that there is hope. Sometimes, hope it all we have. Consider being a mentor to new heart parents through a parent matching program. Some of my favorites are: It's My Heart, Kids with Heart, Little Hearts, Mended Little Hearts, Saving Little Hearts, and Sophie's Heart, but these are just a very few as there are hundreds of parent-matching programs available worldwide, and there may even be one through your child’s very own heart hospital.

Sharing is caring... 

What is Hypoplastic Left Heart Syndrome?

If you're visiting here, you are most likely not new to this diagnosis, but I thought it would be helpful to share what I learned when my son was first diagnosed with HLHS.

Hypoplastic left heart syndrome (HLHS) is a combination of several abnormalities of the heart and great blood vessels. It is a congenital (present at birth) syndrome, meaning that the heart defects occur due to abnormal underdevelopment of sections of the fetal heart during the first 8 weeks of pregnancy.

In the normal heart, oxygen-poor (blue) blood returns to the right atrium from the body, travels to the right ventricle, and then is pumped through the pulmonary artery into the lungs where it receives oxygen. Oxygen-rich (red) blood returns to the left atrium from the lungs, passes into the left ventricle, and then is pumped out to the body through the aorta.

           

In hypoplastic left heart syndrome, also known as single ventricle condition, most of the structures on the left side of the heart are small and underdeveloped. The degree of underdevelopment differs from child to child. The structures affected usually include the following:

           

·         Mitral valve - the valve that controls blood flow between the left atrium and left ventricle in the heart.

·         Left ventricle - the lower left-hand chamber of the heart. It receives oxygen-rich (red) blood from the left atrium and pumps it into the aorta, which takes the blood to the body. The left ventricle must be strong and muscular in order to pump enough blood to the body to meet its requirements.

·         Aortic valve - the valve that regulates blood flow from the heart into the aorta.

·         Aorta - the largest artery in the body and the primary blood vessel leading from the heart to the body.

           

Perhaps the most critical defect in HLHS is the small, underdeveloped left ventricle. This chamber is normally very strong and muscular so it can pump blood to the body. When the chamber is small and poorly developed, it will not function effectively and cannot provide enough blood flow to meet the body's needs. For this reason, an infant with hypoplastic left heart syndrome will not live long without surgical intervention.

           

Hypoplastic left heart syndrome occurs in up to four out of every 10,000 live births. The syndrome comprises 8 percent of all cases of congenital heart disease. It is one of the top three heart abnormalities to cause problems in the newborn. HLHS occurs slightly more often in boys than in girls.

           

What causes hypoplastic left heart syndrome?

            Some congenital heart defects may have a genetic link, either occurring due to a defect in a gene, a chromosome abnormality, or environmental exposure, causing heart problems to occur more often in certain families. In hypoplastic left heart syndrome, there may be abnormalities of other organs, such as diaphragmatic hernia, omphalocele, and hypospadias.

In many children, HLHS occurs sporadically (by chance), with no clear reason evident for their development.

           

What are the symptoms of hypoplastic left heart syndrome?

            Infants with HLHS usually develop symptoms shortly after birth. The following are the most common symptoms of hypoplastic left heart syndrome. However, each child may experience symptoms differently. Symptoms may include:

           

·         Cyanosis (blue color of the skin, lips, and nail beds)

·         Pale skin

·         Sweaty or clammy skin

·         Cool skin

·         Heavy and/or rapid breathing

·         Fast heart rate

           

The symptoms of hypoplastic left heart syndrome may resemble other medical conditions and heart problems. Always consult your child's physician for a diagnosis.

           

How is hypoplastic left heart syndrome diagnosed?

            Your child's physician may have heard a heart murmur during a physical examination, and referred your child to a pediatric cardiologist for a diagnosis. A heart murmur is simply a noise caused by the turbulence of blood flowing through the obstruction from the right ventricle to the pulmonary artery. Symptoms your child exhibits will also help with the diagnosis.

A pediatric cardiologist specializes in the diagnosis and medical management of congenital heart defects, as well as heart problems that may develop later in childhood. The cardiologist will perform a physical examination, listening to the heart and lungs, and make other observations that help in the diagnosis. However, other tests are needed to help with the diagnosis.      

Chest x-ray - a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.

Electrocardiogram (ECG or EKG) - a test that records the electrical activity of the heart, shows abnormal rhythms (arrhythmias or dysrhythmias), and detects heart muscle damage.

Echocardiogram (echo) - a procedure that evaluates the structure and function of the heart by using sound waves recorded on an electronic sensor that produce a moving picture of the heart and heart valves.

           

Treatment for hypoplastic left heart syndrome:

            Specific treatment for hypoplastic left heart syndrome will be determined by your child's physician based on:

           

·         Your child's age, overall health, and medical history.

·         Extent of the disease.

·         Your child's tolerance for specific medications, procedures, or therapies.

·         Expectations for the course of the disease.

·         Your opinion or preference.

           

Your child will most likely be admitted to the intensive care unit (ICU) or special care nursery once symptoms are noted. Initially, your child may be placed on oxygen, and possibly even on a ventilator, to assist his/her breathing. Intravenous (IV) medications may be given to help the heart and lungs function more efficiently.

There are two approaches offered to treat HLHS. Your child's cardiologist and cardiac surgeon will explain the risks and benefits to you. The options include the following:

           

·         A series of three operations that are done in stages: one shortly after birth, the second at about 6 months of age, and the final at about 18 months of age (these stages may vary). In this series of operations, the right ventricle is used as the main pumping chamber to the body, and blood flow is redirected to the lungs and the body with various surgical connections.

·         Heart transplantation.

Although we chose the route of surgical repairs over heart transplantation, I see the outcomes in the same way - our children are breaking the mold.  If you are interested in reading more about the treatment of HLHS at Children’s Hospital of Wisconsin, please follow the link:

http://www.chw.org/display/PPF/DocID/23065/router.asp