Babies born with hypoplastic left heart syndrome often appear to be normal at birth. The signs and symptoms begin to show effect after the first few hours. The following are the signs and symptoms of this congenital condition:

• Cyanosis characterized by grayish to bluish skin color
• Lethargy
• Decreased pulse rate
• Shortness of breath
• Rapid breathing
• Extremities are cold
• Poor sucking and feeding
• Pounding heart
• Dilated pupils

• Atrial Septal Defect

  Effective treatment of restrictive atrial septal defect is related to a better outcome, as it leads to equalisation of survival between patients with and those without restrictive atrial septal defect. [ncbi.nlm.nih.gov]

  Blood returning from the lungs has to flow through an opening in the wall between the upper chambers of the heart (an atrial septal defect). [medicinenet.com]

• Congestive Heart Failure

  In some patients decompression of the left atrium can lead to early excessive pulmonary blood flow and congestive heart failure requiring urgent intervention. [ncbi.nlm.nih.gov]

  If the ductus arteriosus closes, the baby may go into shock, suffer organ failure and congestive heart failure. [dellchildrens.net]

  Other medications to prevent and control congestive heart failure may also be administered including digoxin and various diuretics. [rarediseases.org]

  Problems encountered over time, or known morbidities include: Congestive heart failure Arrhythmias Protein loosing enteropathy (PLE) Plastic bronchitis Fontan-related liver disease Chronic kidney disease Endocrine abnormalities (bone disease, growth failure [luriechildrens.org]

  Medications such as Lasix, ACE inhibitors and beta blockers are commonly used to manage congestive heart failure symptoms. Twenty to 40 percent of children die before or soon after all of the stages of surgery are performed. [secondscount.org]

• Hypoxemia

  With emerging data to support the role of extracorporeal membrane oxygenation in improving mortality for refractory hypoxemia secondary to pH1N1, it is prudent to strongly consider the use of extracorporeal support in patients with underlying diseases [ncbi.nlm.nih.gov]

  This may result in hypoxemia. A delicate balance between pulmonary and systemic vascular resistances should be maintained to ensure adequate oxygenation and tissue perfusion. [emedicine.medscape.com]

• Pathologist

  Forensic pathologists may encounter very rare pathological findings with unexpected infant deaths. [ncbi.nlm.nih.gov]

  Price, Addressing phonological memory in language therapy with clients who have Down syndrome: Perspectives of speech–language pathologists, International Journal of Language & Communication Disorders, 51, 6, (703-714), (2016). Nataliya S. [doi.org]

• Fatigue

  After redilatation of the pulmonary artery stent, wheezing, fatigue, asymmetric bronchial sound, and desaturation was noted. [ncbi.nlm.nih.gov]

• Respiratory Distress

  We describe a 7-yr-old boy with a history of the Fontan operation for hypoplastic left heart syndrome admitted with acute respiratory distress syndrome secondary to 2009 pH1N1 influenza A infection. [ncbi.nlm.nih.gov]

  In babies with a restrictive or absent ASD, severe cyanosis and respiratory distress will present at birth along with pulmonary venous congestion. [pedclerk.bsd.uchicago.edu]

  Patients with severe restriction at the atrial septum will present with respiratory distress, cyanosis, and acidosis immediately after birth (functionally equivalent to obstructed TAPVR) and require immediate balloon atrial septostomy in the cardiac catheterization [utcardiothoracicsurgery.com]

  Respiratory distress (difficult or fast breathing) is often present because the lungs will tend to receive an excessively large amount of blood flow. There is often no or just a faint murmur present in newborns with HLHS. [cincinnatichildrens.org]

• Tachypnea

  Signs and symptoms include tachypnea, cyanosis, dyspnea, and lethargy Applies To Atresia, or marked hypoplasia, of aortic orifice or valve, with hypoplasia of ascending aorta and defective development of left ventricle (with mitral valve atresia) ICD- [icd9data.com]

  Subsequently, the clinical picture of cardiogenic shock (eg, tachypnea, dyspnea, weak pulse, pallor, cyanosis, hypothermia, metabolic acidosis, lethargy, oliguria or anuria) rapidly develops. [merckmanuals.com]

  Signs and symptoms include tachypnea, cyanosis, dyspnea, and lethargy. [icd10data.com]

• Nausea

  A 25-year-old male was transferred to our institution complaining of headache, nausea, and vomiting. The patient was not an intravenous (IV) drug user, and serologic testing was negative for human immunodeficiency virus. [ncbi.nlm.nih.gov]

• Hepatomegaly

  Neonates with HLHS do not typically have a heart murmur, but in some cases, a pulmonary flow murmur or tricuspid regurgitation murmur may be audible.Co-occurring tricuspid regurgitation or right ventricular dysfunction can cause hepatomegaly to develop [en.wikipedia.org]

  A soft, nonspecific systolic murmur is often present, as is hepatomegaly. Severe metabolic acidosis is typical, often worsening if supplemental oxygen is administered, which is characteristic of hypoplastic left heart syndrome. [merckmanuals.com]

  When shock occurs, the symptoms may include abnormally high pulse (tachycardia) and respiration rate, respiratory distress, abnormally enlarged liver (hepatomegaly), cool moist skin, abnormally low blood pressure, and/or paleness. [rarediseases.org]

• Heart Disease

  Spray, Chronic Heart Failure in Congenital Heart Disease, Circulation, 10.1161/CIR.0000000000000352, 133, 8, (770-801), (2016). Heather J. Ross, Yuk Law, Wendy M. Book, Craig S. Broberg, Luke Burchill, Frank Cecchin, Jonathan M. [doi.org]

  From Wikidata Jump to navigation Jump to search congenital heart disease characterized by abnormal development of the left-sided structures of the heart edit Language Label Description Also known as English hypoplastic left heart syndrome congenital heart [wikidata.org]

  The existence and strength of seasonality for the left-sided heart defects was quantified by the autoregression R2. A seasonal occurrence was found in hypoplastic left heart syndrome but not other left-sided heart diseases. [ncbi.nlm.nih.gov]

  Hypoplastic left heart syndrome: A form of congenital heart disease in which the whole left half of the heart (including the aorta, aortic valve, left ventricle and mitral valve) is underdeveloped (hypoplastic). [medicinenet.com]

• Cyanosis

  […] is a response to cold (this reaction is called peripheral cyanosis). [nlm.nih.gov]

  Signs and symptoms include tachypnea, cyanosis, dyspnea, and lethargy Applies To Atresia, or marked hypoplasia, of aortic orifice or valve, with hypoplasia of ascending aorta and defective development of left ventricle (with mitral valve atresia) ICD- [icd9data.com]

  Symptoms of HLHS include blue or gray skin color (cyanosis), rapid breathing, pounding heart, shortness of breath, cold hands and feet, weak pulse, unusual drowsiness and poor feeding. [kidshealth.org]

  This report describes an infant with heterotaxy syndrome and severe hypoplasia of the left heart who presented with profound cyanosis at birth despite a large patent ductus arteriosus. [ncbi.nlm.nih.gov]

• Heart Failure

  In some patients decompression of the left atrium can lead to early excessive pulmonary blood flow and congestive heart failure requiring urgent intervention. [ncbi.nlm.nih.gov]

  The Todd and Karen Wanek Family Program for Hypoplastic Left Heart Syndrome (HLHS) is a research program with the goal of delaying or preventing heart failure for individuals with HLHS. To learn more or to participate, email [email protected] [hlhsblog.mayoclinic.org]

  After birth, a thorough physical examination would reveal heart failure. [symptoma.com]

  The overall goal of the program is to delay or even prevent heart failure for people with hypoplastic left heart syndrome. [mayo.edu]

  Hypoplastic left heart syndrome causes heart failure—the heart pumps less than normal amount of blood to the body—and eventually death. Diagnosis is by echocardiography. [msdmanuals.com]

• Cardiomegaly

  There is marked cardiomegaly with passive venous congestion in this newborn who presented with shock. B. Frame from a cineangiogram demonstrates severe hypoplasia of the ascending aorta. [bcm.edu]

  Over the course of 14 months following operation, the patient developed significant cardiomegaly with a workup revealing severe native aortic valve insufficiency. [ncbi.nlm.nih.gov]

  CXR shows mild cardiomegaly and increased pulmonary vasculature. Echocardiography is the diagnostic study of choice and provides anatomic details about the aortic valve, aorta, coronary anatomy, atrial septum, and other valvular function. [utcardiothoracicsurgery.com]

  Chest x-ray may show a large heart (cardiomegaly) or increased pulmonary vasculature. [en.wikipedia.org]

  Chest x-ray shows cardiomegaly and pulmonary venous congestion or pulmonary edema. ECG shows right ventricular hypertrophy and diminished left ventricular forces, though it may be within normal limits for a neonate. [merckmanuals.com]

• Hydrops Fetalis

  Allison Divanović, David Witte and Erik Michelfelder, A Fetus With Hypoplastic Left Heart Syndrome and Tricuspid Stenosis With Evolving Hydrops Fetalis, Pediatric Cardiology, 33, 7, (1210), (2012). C. Noseda, T. Mialet-Marty, A. Basquin, I. [doi.org]

• Lethargy

  Signs and symptoms include tachypnea, cyanosis, dyspnea, and lethargy Applies To Atresia, or marked hypoplasia, of aortic orifice or valve, with hypoplasia of ascending aorta and defective development of left ventricle (with mitral valve atresia) ICD- [icd9data.com]

  Symptoms Symptoms of hypoplastic left heart syndrome include cyanosis, rapid heart rate, arrhythmias, lethargy, poor pulse rate, poor sucking, and shortness of breath and cold extremities. [symptoma.com]

  Symptoms usually occur in the first few hours of life and include bluish or pale skin color (cyanosis), cold hands and feet, lethargy, and poor feeding. Surgical intervention is generally a series of three staged surgical procedures. [secure.ssa.gov]

  The patient often presents with a history of poor feeding, increased work of breathing, pale or gray coloration, and lethargy. [merckmanuals.com]

• Cesarean Section

  An urgent Cesarean section was performed at 33 6/7 weeks gestation, given breech position and intractable preterm labor. [ncbi.nlm.nih.gov]

  […] cw ヒト, ﾋﾄ, human(primates), 012150, human, 症例報告, ｼｮｳﾚｲﾎｳｺｸ, case report, 054676, 心エコー図, ｼﾝｴｺｰｽﾞ, echocardiogram, 051873, 三尖弁, ｻﾝｾﾝﾍﾞﾝ, tricuspid valve, 052667, 羊水過多症, ﾖｳｽｲｶﾀｼｮｳ, hydramnios, 054573, 帝王切開, ﾃｲｵｳｾｯｶｲ, cesarean section, 040980, 染色体異常, ｾﾝｼｮｸﾀｲｲｼﾞｮｳ [togodb.biosciencedbc.jp]

  Typically, your child can be delivered without inducement and without a cesarean section (C-section), unless your obstetrician deems it necessary for other reasons. [childrens.memorialhermann.org]

An ultrasound examination during the second trimester of pregnancy can reveal presence of hypoplastic left heart syndrome [6]. This imaging modality can be enhanced by the use of color Doppler studies [7]. After birth, a thorough physical examination would reveal heart failure. In case of heart failure the following signs would be evident:

• Rapid breathing
• Liver enlargement
• Lethargy 
• Fast heart rate
• Heart murmur
• Abnormal heart sounds and
• Weak pulse at locations of wrist and groin regions

In addition to physical examination, other tests such as cardiac catheterization, echocardiogram, ECG and x-ray of the chest would be done. An echocardiogram reveals small underdeveloped left ventricle and aorta. This test is also used for tracking the blood flow and can also help detect other associated heart defects if present.

• Right Axis Deviation

  Initial 12-lead electrocardiogram revealed 2-mm ST segment elevation in inferior leads, 3-mm ST-segment elevation in anterolateral precordial leads V3 and V4, and 2-mm ST-segment elevation in V5 and V6, with right axis deviation. [ncbi.nlm.nih.gov]

  ECG: Variable, typically there is a right axis deviation, with right ventricular hypertrophy and diminished left heart voltages. There may be a leftward superior axis in patients with a malaligned common AV septal defect. [bcm.edu]

  These neonates quickly decompensate and develop acidosis and cyanosis.On EKG, right axis deviation and right ventricular hypertrophy are common, but not indicative of HLHS. [en.wikipedia.org]

Treatment of hypoplastic left heart syndrome is usually done through a 3 step surgical procedure. Before the surgery, the condition is managed through medications that help dilate the blood vessels and keep the ductus arteriosus open. The baby may be required to put on ventilator if she experiences breathing problems. Following this, surgery is carried out in the following 3 steps:

• The Norwood operation involves reconstruction of the aorta and connecting it to the lower right chamber of the heart [8]. After the operation is successfully completed, the chances of survival increase. Nasogastric feeding for infants may be required after this procedure to increase calorie breast milk or formula [9].
• A hemi–Fontan procedure is done between 4 to 12 months of age. This procedure reduces the work of the right ventricle making it to pump blood only to the aorta. 
• The Fontan procedure is carried out between 18 months and 3 years of age. After this surgery, there is no mixing of oxygen rich and oxygen poor blood [10]. 

If hypoplastic left heart syndrome is not treated on time it can turn fatal. Surgery remains the primary mode of treatment and survival rates are as high as 75% after the first procedure. Prognosis gets better after success of every surgical procedure. The child’s recovery is also largely dependent on the size and functioning of the right ventricle.

Complications

When hypoplastic left heart syndrome is left untreated, it can pose the following complications:

• Arrhythmias characterized by irregular and fast heart beats
• Heart failure
• Chronic diarrhea due to protein losing enteropathy
• Ascites characterized by accumulation of fluid in the abdomen
• Complications of the nervous system
• Blockage of the artificial shunt
• Sudden death

The exact cause behind the development of hypoplastic left heart syndrome is unknown. Such a condition develops during fetal development where the structures of the left side of the heart does not properly form. Hypoplastic left heart syndrome is thought to run in families; this means that siblings of the affected child are at an increased risk of developing it.

According to the Centers for Disease Control and Prevention, each year about 960 babies in the US are diagnosed with hypoplastic left heart syndrome. This means that about 16 to 36 cases in every 10,000 babies in US are born with this condition [2].

Hypoplastic left heart syndrome represents 1.2 -1.6% of all congenital heart diseases in the United States [3]. Before heart repair surgery was available this congenital anomaly claims 25% of all cardiac neonatal deaths in the country [4].

In condition of hypoplastic left heart syndrome, the heart is unable to supply blood to the rest of the body due to malformation of the left ventricle. In addition to this, the valves in the left side of the heart do not work properly [5]. Also, the aorta is smaller than normal. All these sequence of events give rise to the condition of hypoplastic left heart syndrome.

During the first few days after birth, the heart pumps blood to lungs and rest of the body through a natural opening referred to as foramen ovale. This opening however closes after few days and then the heart is unable to pump blood giving rise to life threatening conditions.

Since this is a congenital defect its development cannot be prevented. But diagnosis of the condition during pregnancy can be done and appropriate decision taken. In such cases, it is advised that the delivery be done in hospital that have proper pediatric cardiac care unit.

Hypoplastic left heart syndrome is a congenital defect wherein the left side of the heart does not develop properly [1]. The left portion of the heart consists of mitral valve, aortic valve, left ventricle, aorta and atrium. These structures either do not develop properly or are too small in size.

Hypoplastic left heart syndrome is a rare heart defect that takes place during fetal development. This condition is more common with males. It has been seen that babies born with hypoplastic left heart syndrome often seem to suffer from atrial septal defect as well.

Definition

Hypoplastic left heart syndrome is defined as the condition wherein the left portion of the heart fails to develop appropriately. It is a congenital condition that poses life threatening consequences for the new born baby.

Cause

The cause behind development of such a heart abnormality is yet to be known. In this condition, the left side of the heart that consists of the mitral valve, aorta, aortic valve and left ventricle do not develop normally. It has been estimated that about 10% of babies born with hypoplastic left heart syndrome are also known to suffer from other heart defects too. 

Symptoms

Symptoms of hypoplastic left heart syndrome include cyanosis, rapid heart rate, arrhythmias, lethargy, poor pulse rate, poor sucking, and shortness of breath and cold extremities. 

Diagnosis

The condition can be diagnosed through an ultrasound examination during the second trimester. After birth, the appearance of physical signs is an indication of hypoplastic left heart syndrome. In addition, echocardiogram, ECG, cardiac catheterization and x-ray of the chest confirms diagnosis.

Treatment

Treatment is primarily initiated with medications and the baby may also be put on ventilator if required. Following this, 3 step surgical procedures are done to correct the heart abnormalities.

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