What is hypoplastic left heart syndrome?
Condition information compiled and organized by Emily Kay
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, 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 nailbeds).
- 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.
Postoperative care for your child: After surgery, infants will return to the intensive care unit (ICU) to be closely monitored during recovery.
While your child is in the ICU, special equipment will be used to help him/her recover, and may include the following:
- Ventilator – a machine that helps your child breathe while he/she is under anesthesia during the operation. A small, plastic tube is guided into the windpipe and attached to the ventilator, which breathes for your child while he/she is too sleepy to breathe effectively on his/her own. After a HLHS operation, children will benefit from remaining on the ventilator overnight or even longer so they can rest.
- Intravenous (IV) catheters – small, plastic tubes inserted through the skin into blood vessels to provide IV fluids and important medicines that help your child recover from the operation.
- Arterial line – a specialized IV placed in the wrist or other area of the body where a pulse can be felt, that measures blood pressure continuously during surgery and while your child is in the ICU.
- Nasogastric (NG) tube – a small, flexible tube that keeps the stomach drained of acid and gas bubbles that may build up during surgery.
- Urinary catheter – a small, flexible tube that allows urine to drain out of the bladder and accurately measures how much urine the body makes, which helps determine how well the heart is functioning. After surgery, the heart will be a little weaker than it was before, and, therefore, the body may start to hold onto fluid, causing swelling and puffiness. Diuretics may be given to help the kidneys to remove excess fluid from the body.
- Chest tube – a drainage tube may be inserted to keep the chest free of blood that would otherwise accumulate after the incision is closed. Bleeding may occur for several hours, or even a few days after surgery.
- Heart monitor – a machine that constantly displays a picture of your child’s heart rhythm, and monitors heart rate, arterial blood pressure, and other values.
Your child may need other equipment not mentioned here to provide support while in the ICU, or afterwards. The hospital staff will explain all of the necessary equipment to you.
Your child will be kept as comfortable as possible with several different medications; some which relieve pain, and some which relieve anxiety. The staff will also be asking for your input as to how best to soothe and comfort your child.
After being discharged from the ICU, your child will recuperate on another hospital unit before going home. You will learn how to care for your child at home before your child is discharged. Your child may need to take medications for a while, and these will be explained to you. The staff will give you instructions regarding medications, activity limitations, and follow-up appointments before your child is discharged.
Infants who spent a lot of time on a ventilator, or who were fairly ill while in the ICU, may have trouble feeding initially. These babies may have an oral aversion; they might equate something placed in the mouth, such as a pacifier or bottle, with a less pleasant sensation such as being on the ventilator. Some infants just are tired, and need to build their strength up before they will be able to learn to bottle-feed. Strategies used to help infants with nutrition include the following:
- High-calorie formula or breast milk – Special nutritional supplements may be added to formula or pumped breast milk that increase the number of calories in each ounce, thereby allowing your baby to drink less and still consume enough calories to grow.
- Supplemental tube feedings – Feedings given through a small, flexible tube that passes through the nose, down the esophagus, and into the stomach, that can either supplement or take the place of bottle-feedings. Infants who can drink part of their bottle, but not all, may be fed the remainder through the feeding tube. Infants who are too tired to bottle-feed at all may receive their formula or breast milk through the feeding tube alone.
Caring for your child at home following a HLHS surgical repair: Pain medications, such as acetaminophen or ibuprofen, may be recommended to keep your child comfortable at home. Your child’s physician will discuss pain control before your child is discharged from the hospital.
If any special treatments are to be given at home, the nursing staff will ensure that you are able to provide them, or a home health agency may assist you.
You may receive additional instructions from your child’s physicians and the hospital staff.
Long-term outlook for hypoplastic left heart syndrome: Consult your child’s physician regarding the specific outlook for your child.
by Loleta Snow (Brady’s Mother)
The Central Arkansas AHA Heart Walk will be April 21, 2012 @ Burns Park in Little Rock! Sign in starts at 8 AM and the WALK starts at 9 AM.
Register to Join our Arkansas CHD Coalition TEAM for the Heart Walk!
Hearts on Wheels will be a FREE celebratory fun filled event for Congenital Heart Defect families and caregivers immediately following the Walk, from 11 AM – 1 PM. Games, food, tricycle races, entertainment and celebrities will be present. Come see us and socialize, share stories and celebrate with us!
Register your family for Hearts on Wheels
for further information, contact us
Condition information compiled and organized by Emily Kay
Pulmonary atresia is a form of congenital heart disease in which the pulmonary valve does not form properly. The pulmonary valve is an opening on the right side of the heart that regulates blood flow from the right ventricle (right side pumping chamber) to the lungs.
In pulmonary atresia, a solid sheet of tissue forms where the valve opening should be, and the valve remains closed. Because of this defect, blood from the right side of the heart cannot go to the lungs to pick up oxygen.
Causes, incidence, and risk factors
As with most congenital heart diseases, there is no known cause of pulmonary atresia. The condition is associated with another type of congenital heart defect called a patent ductus arteriosus (PDA).
Persons with pulmonary atresia may also have a poorly developed tricuspid valve. They may also have an underdeveloped right ventricle and abnormal blood vessels feeding the heart.
Pulmonary atresia may occur with or without a ventricular septal defect (VSD). If the person does not have a VSD, the condition is called pulmonary atresia with intact ventricular septum (PA/IVS). If the person has both problems, the condition is called pulmonary atresia with VSD. This is an extreme form of tetralogy of Fallot. Although both conditions are called pulmonary atresia, they are actually different defects.
Symptoms usually occur in the first few hours of life, although it may take up to a few days.
Symptoms may include:
- Bluish colored skin (cyanosis)
- Fast breathing
- Poor eating habits (babies may get tired while nursing or sweat during feedings)
- Shortness of breath
Signs and tests
The health care provider will use a stethoscope to listen to the heart and lungs. Persons with a PDA have a heart murmur that can be heard with a stethoscope.
The following tests may be ordered:
- Chest x-ray
- Electrocardiogram (ECG)
- Heart catheterization
- Pulse oximetry – shows the amount of oxygen in the blood
A medicine called prostaglandin E1 is usually used to help the blood move (circulate) into the lungs. This medicine keeps a blood vessel open between the pulmonary artery and aorta. The vessel is called a patent ductus arteriosus (PDA).
Other treatments include:
- Heart catheterization to repair the problem
- Open heart surgery to repair or replace the valve, or to place a tube between the right ventricle and the pulmonary (lung) arteries
- Reconstructing the heart as a single ventricle (for some patients)
- Heart transplant
Most cases can be helped with surgery. However, how well a baby does depends on:
- Quality of the blood vessels supplying the heart
- How well the heart is beating
- Amount of leakiness of the other heart valves
Outcomes can vary because of the different forms of this defect. The baby could have only a single catheter-based procedure, or could need three or more surgeries and have only a single working ventricle. The outcome is difficult to predict without knowing all details about the patient’s condition.
- Delayed growth and development
- Infectious endocarditis
- Heart failure
Calling your health care provider
Call your health care provider if the baby has:
- Problems breathing
- Skin or nails that appear blue (cyanosis)
There is no known prevention.
All pregnant women should receive routine prenatal care. Many congenital defects can be discovered on routine ultrasound examinations. If the defect is found before birth, medical specialists (such as a pediatric cardiologist, cardiothoracic surgeon, and neonatologist) can be present at the birth, and ready to help as needed. This preparation can mean the difference between life and death for some babies.
My Personal Journey with CHD
Written by Dana Hageman (Mother)
In 1997, my daughter, Allison, was born with a Congenital Heart Defect called Pulmonary Atresia with Intact Ventricular Septum. Within 2 hours, she was being transported to Arkansas Children’s Hospital. She was placed on special medications to keep her heart functioning as it had been in the womb, and on oxygen to further increase her oxygen levels. She had her first Open Heart Surgery at 2 days old (July 1997), and her second open heart surgery at just under 5 months old (Dec 1997). These surgeries allowed her to function with a “free-flowing Pulmonary Opening” where her Pulmonary Valve should have been. The upside to this was that her ventricle and her body would have time to grow and develop; the downside is that there was no valve to prevent backflow of blood through the pulmonary opening, gradually creating possible further damage to the ventricle and to her tricuspid valve from the increased flow and pressures. This was monitored at her regular cardiology check ups, complete with EKGs and Echocardiograms. She was otherwise able to lead a relatively normal healthy life through her preschool and elementary years. Her cardiologist told me several times that Allison was “the exception to all the rules” and that she was amazing.
In ’97, when Allison was born, my husband and I were told that this CHD was not hereditary. We were told that there was no “known cause” and that we should not have any worries about future children. The general statistic is that there is a 1% chance of a CHD in normal pregnancies. Over the 10 years after Allison was born, the statistic was adjusted to a 2%-5% chance IF YOU ALREADY HAD A CHD CHILD. (New notes: Certain forms of CHD are NOW known to have a much greater chance of being genetic than others)
However, when I became pregnant with my son, Arley, in 2007, my OB/GYN had NO concerns about me being at an increased chance for a heart defect. I disclosed all of Allison’s information to him. He performed regular ultrasounds. He discussed amniocentesis, as I was “on the upside of 35″. NEVER did he mention, advise or imply that I MIGHT need to consider having a fetal ultrasound done. Never did he advise further testing or express concern regarding increased chances for CHD due to my already having a CHD child. I do not believe he was incompetent, I believe the general knowledge is just not out there. I know of many OB/GYNs who would have had the same opinion and would also not have referred for further testing. This is also a situation which needs changing, requiring Better Education regarding CHDs and Better Guidelines for when to refer to a cardio specialist.
Just one week before Arley was born, Allison was seen by her regular cardiologist for a check up, and the cardiologist was surprised to learn that I was extremely pregnant, and asked about what testing had been done. I felt that she was somewhat concerned that I had not been referred for testing, but did not wish to distress me. One week later, I gave birth to Arley, my third child, my second CHD child. Specifically, my second child with PA-IVS.
Alli and Arley now share that same wonderful cardiologist! Arley’s initial treatments went almost identical to Allison’s. Special medications and oxygen kept him alive for the first several days of his life. Catheter advancements since Allison’s birth had made it “POSSIBLE” that his condition might be treated with catheter interventions. This process was attempted, but was not successful. Therefore, Arley had his first OHS at 6 days old (Nov 2007) , and his second OHS at 10 months (Aug 2008). He has had MULTIPLE catheter procedures in the last 4 ½ years. He has some complications that Allison did not have; most importantly, he has severe Bi-Lateral Branch Pulmonary Artery Stenosis. His LPA (left Pulmonary Artery) has been patched, and was recently stented (Feb 2012). His RPA (right PA) has been stented at the lower lobe branch (Nov 2010) and this stent was expanded in the Feb 2012 procedure. His RPA may also eventually need to be stented at the upper lobe branch as well, although we are hoping that the recent interventions will delay the need for further procedures for another 2 – 3 years. He will almost certainly eventually need a new Pulmonary Valve, just as Allison eventually needed one.
Five months after Arley was born and had his first surgery, and approximately five months before his second surgery, my daughter, Allison, had her third OHS (March 2008). She now has a prosthetic pulmonary valve. 10 years before, this valve implant would have meant that she would be destined to have further OHS, at regular intervals, to replace each prosthetic valve as it degrades or is outgrown. Due to research advances, her valve can now POSSIBLY be replaced (multiple times throughout her life) by catheter procedures, which is far less intrusive and traumatic than the previous open heart options. My daughter’s valve was the first of its kind placed by her surgeon at Arkansas Children’s Hospital (ACH). Over the last 4 years, medical research has led to even further valve advancements, offering many new options for some patients.
My son’s RPA stent was placed in November 2010 via catheter. Prior to this time, the cardiologists had expressed Arley’s NEED for a stent, but they had also expressed a reluctance to place one until he was much larger, as his expected growth would also mean outgrowing the stent, bringing the need for an OHS to remove and replace it. The new technology of the stent which he eventually received allows it to be expanded by catheter, so unless he reaches giant proportions, that stent should not be the reason for another OHS. This specific stent technology had just been introduced to ACH when Arley’s stent was placed. Since then, in February 2012, he has had another stent placed via catheter procedure AND his first stent was expanded via catheter procedure. These are all options now available due to medical research, medical research funding and recent advancements.
In Summer of 2011, Allison began having problems with extreme fatique, then with appetite and weight loss, and eventually began having spiking high fevers and extreme headaches, then came a chronic little cough. All of these symptoms “grew” over a period of weeks, between late June 2011 and August 2011. Unfortunately, different General Pediatricians failed to put all of the symptoms together and create a big picture. Finally, one very concerned and attentive Gen Ped made the effort to call in an Infectious Disease specialist. By this time, in September 2011, Allison had gone from a healthy active 101 pound teenager to a lethargic, extremely pale, 82 pound invalid. Getting out of bed to eat and drink were major efforts for her. Her “bloodcounts” were practically non-existent. She was hospitalized and finally diagnosed with an infection that had decimated her system. Special multi-antibioitic treatments were prescribed, and Allison slowly recovered. However, even though her blood counts are back to normal, she’s gained back her weight and her heart does not appear to have any permanent damage seen in our normal tests, she is still not back to the normal activity levels she had prior to this infection. It is heart-wrenching what a basic infection can do to a child with any kind of compromised system. I cannot say how much I appreciate the support of other CHD parents telling me to “not give up”! That if I felt that there was something terribly wrong with my child, to keep pushing, and keep asking, and continue looking for answers! That is a part of what support is all about.
I have much to say about medical research, medical advances, and how much of a difference that research is making in our CHD world. Each of these advances mean a higher quality of life, and less surgical risks for my children, and THOUSANDS of other children! Please help support CHD awareness and research.
I have learned a lot about medical research and reference through necessity. I have, through my own research, found two, and possibly three, references to familial PA-IVS cases involving siblings over the past few decades, and I have initiated contact with members of two of the teams on those research cases. There is interest in furthering this research. There is local interest in furthering this research as well. I believe my children ARE the exception to the rule; they can provide the answer to some of these questions; and there is a reason for our situation. It will just take the right person to find that answer. It will just take me finding that right person, or them finding me. Finding our answer will lead to more answers for others, and someday, those answers answers will hopefully lead to prevention studies.
Too many parents have gone through the nightmare of living in a CVICU waiting room while their child is struggling to live. We are many, and we are everywhere. There is no reason for any parent to go through this experience alone. There is a need for sibling support, and ways to integrate siblings into the CHD world with (hopefully) less trauma. My two CHD children have obvious scars. Their older sister, Tasha, has scars that are unseen, but are also important to be tended to and acknowledged. We are intent upon spreading the word about our existence, spreading word about the prevalence of CHDs, and spreading the word that more support for awareness and more funding for research is needed.