Last updated date: 28-Aug-2023

Originally Written in English



A normal heart has valves, arteries, and chambers that transport blood in a circular pattern: body-heart-lungs-heart-body. When all chambers and valves are functioning properly, blood is pumped through the heart, to the lungs for oxygen, back to the heart, and out to the body for oxygen delivery. This circulatory pattern can be disrupted when valves, chambers, arteries, and veins are faulty. Congenital heart abnormalities are anomalies that occur at birth. They may or may not have an influence on a person's circulatory system.


What is Atelocardia?

Atelocardia definition

Atelocardia, also known as a congenital heart defect, is a cardiac condition that you are born with. They are the most prevalent type of birth deformity. Congenital cardiac abnormalities can in a variety of forms. The majority of them damage the walls, valves, or blood arteries of your heart. Some are severe and may need many surgeries and therapies.

CHDs are present at birth and can damage the structure and function of a baby's heart. They have the potential to influence how blood flows through the heart and out to the rest of the body. CHDs range in severity from modest (a tiny hole in the heart) to severe (such as missing or poorly formed parts of the heart).

One in every four newborns born with a heart abnormality has a serious CHD (also known as critical congenital heart defect). In the first year of life, babies with serious CHD require surgery or other interventions. The most frequent form of birth abnormality is congenital heart defects (CHDs). Babies with a CHD are living longer and healthier lives as medical care and treatment have evolved.


What causes Atelocardia?

Atelocardia causes

The majority of congenital heart abnormalities are caused by alterations that occur early in the development of the baby's heart before birth. Most congenital cardiac abnormalities have no known cause; however, several risk factors have been found. The following are risk factors for congenital cardiac defects:

  • Rubella (German measles). Rubella infection during pregnancy can harm a baby's heart development. A blood test performed before to pregnancy can establish if you are immune to rubella. For people who are not immune, a vaccination is available.
  • Diabetes. Blood sugar management before and throughout pregnancy can lower the chance of congenital heart abnormalities in the infant. Diabetes that develops during pregnancy (gestational diabetes) does not raise the risk of heart abnormalities in the infant.
  • Medications. Certain drugs used during pregnancy have been linked to birth problems such as congenital heart defects. Before attempting to conceive, give your doctor with a thorough list of any drugs you are taking.

Thalidomide (Thalomid), angiotensin-converting enzyme (ACE) inhibitors, statins, the acne treatment isotretinoin (Myorisan, Zenatane, and others), several epileptic meds, and some anxiety medications have all been linked to an increased risk of congenital cardiac abnormalities.

  • Drinking alcohol during pregnancy. Alcohol use during pregnancy raises the chance of congenital cardiac abnormalities.
  • Smoking. Quit smoking if you smoke. Smoking during pregnancy raises the baby's chance of having a congenital heart problem.
  • Family history and genetics. Congenital cardiac abnormalities can run in families (be inherited) and be linked to a genetic condition. Congenital cardiac abnormalities affect many children who have an additional 21st chromosome (Down syndrome). Heart abnormalities are also caused by a missing portion (deletion) of genetic material on chromosome 22.


What are the symptoms of Atelocardia?

Atelocardia symptoms

Serious congenital cardiac abnormalities are often discovered shortly after delivery or within the first few months of life. Among the signs and symptoms might be:

  • Pale grey or blue lips, tongue, or fingernails (cyanosis) 
  • Rapid breathing
  • Swelling in the legs, belly, or regions around the eyes 
  • Shortness of breath during feedings, resulting in low weight gain

Less severe congenital cardiac abnormalities may be undetected until later in infancy. In older children, signs and symptoms of congenital cardiac abnormalities may include:

  • Easily getting short of breath during exercise or activity
  • Easily tiring during exercise or activity 
  • Fainting during exercise or activity 
  • Swelling in the hands, ankles, or feet


What are the types of Atelocardia?

Types of Atelocardia

Atelocardia, often known as congenital heart abnormalities, are structural issues caused by faulty heart or major blood artery development. There are at least 18 different forms of congenital cardiac abnormalities, with many more anatomic variants. Most problems, even those long considered to be incurable, may now be treated because to ongoing advances in diagnosis and treatment (surgery and cardiac catheterization).

There are several forms of congenital cardiac defects. These conditions can also involve pulmonary artery and/or pulmonary valve abnormalities. This deformity goes unnoticed at birth in some individuals, and the defect is only recognized later in life. Others have such obvious signs that it has already been discovered.


Aortic Valve Stenosis (AVS):

A valve connecting the heart to the body that does not open and seal correctly and may leak blood. When the blood going out of the heart is caught by a malfunctioning valve, pressure can build up inside the heart and cause harm.

Aortic stenosis (AS) is caused by an improperly formed aortic valve. A typical valve is made up of three sections (leaflets or cusps), but a stenotic valve may only have one cusp (unicuspid) or two cusps (bicuspid), which are thick and rigid rather than thin and flexible.


Atrial Septal Defect (ASD):

A "hole" in the heart's wall that divides the upper two chambers. This flaw permits oxygen-rich blood to flow into the heart's oxygen-depleted blood chambers. ASD is a hole in the septum between the two upper chambers of the heart (atria). The septum is a wall that divides the left and right sides of the heart.

Normally, the left side of the heart only sends blood to the body, whereas the right side only sends blood to the lungs. Blood can flow through the hole from the left upper chamber (left atrium) to the right upper chamber (right atrium) and out into the pulmonary arteries in a kid with ASD.

If the ASD is severe, the excess blood pushed into the lung arteries causes the heart and lungs to work harder, and the pulmonary arteries might eventually get damaged. If the hole is tiny, it may not create any symptoms or issues. Many healthy individuals still have a little residual opening in the wall between the atria, known as a Patent Foramen Ovale (PFO).


Coarctation of the Aorta (CoA):

A narrowing of the aorta, the main artery that transports blood to the body. This constriction affects blood flow as the arteries branch out to send blood to the upper and lower portions of the body through different veins. High blood pressure or cardiac damage can be caused by CoA.

Coarctation is a condition that prevents blood flow from the heart to the lower body. Blood pressure rises as a result of the restriction. The blood pressure in the left pumping chamber (left ventricle) is significantly greater than normal, and the heart must work much harder to pump blood through the aortic constriction. This can lead to cardiac muscle thickening (hypertrophy) and injury.


Complete Atrioventricular Canal defect (CAVC):

A huge hole in the core of the heart that affects all four chambers where they should be split. The oxygen-rich blood from the lungs does not mingle with the oxygen-depleted blood from the body when the heart is appropriately split. A CAVC causes blood to mingle, causing the chambers and valves to fail to direct blood to each station of circulation.

The AV canal defect is a big hole in the middle of the heart. It is positioned where the septum (wall) between the upper chambers (atria) meets the septum (wall) between the lower chambers (ventricles). The top and lower chambers are both affected by this septal defect. The tricuspid and mitral valves, which ordinarily separate the upper and lower chambers of the heart, are not created as independent valves. Instead, a single big valve grows to bridge the gap between the two sides of the heart.


D-Transposition of the great arteries:

The two major arteries transporting blood away from the heart are reversed in this heart. A typical blood pattern transports blood in the following order: body-heart-lungs-heart-body. When there is a d-transposition, the blood route is hampered because the two arteries link to the incorrect chambers of the heart. This signifies that the blood flow cycle is stalled in one of two states:

  • body-heart-body (without being sent to the lungs for oxygen) or 
  • lungs-heart-lungs (without delivering oxygen to the body)

Without surgery, the only option to briefly survive this situation is to have leaks that enable some oxygen-rich blood to flow into the oxygen-depleted blood and be delivered to the body. In addition, a hospital can catheterize a patient until corrective surgery can be performed.


L-Transposition of the great arteries:

A heart in which the bottom portion is completely flipped. Because the right and left bottom chambers of the heart are reversed, the typical blood flow pattern is inverted. The I-transposition, on the other hand, is less harmful than the d-transposition since the major arteries are likewise reversed. This "double reversal" permits the body to continue receiving oxygen-rich blood while the lungs continue to absorb oxygen-depleted blood.


Ebstein's Anomaly:

A heart valve that is faulty and does not seal correctly to keep blood flowing in the appropriate direction. Blood may flow back from the lower to higher chambers of the right side of the heart. This condition is also frequently associated with ASD (or a hole in the wall dividing the two upper chambers of the heart).


Patent Ductus Arteriosus (PDA):

An open aorta. The fetus's blood does not need to go to the lungs to be oxygenated before birth. The ductus arteriosus is a hole that permits blood to bypass the circulatory system and get directly to the lungs. When the infant is born, however, the blood must acquire oxygen in the lungs, and the hole is expected to close. If the ductus arteriosus remains open (or patent), blood may bypass this critical phase in the circulation process. The patent ductus arteriosus is the open opening.

Normally, the left side of the heart only pumps blood to the body, whereas the right side only pumps blood to the lungs. Extra blood is pushed from the body artery (aorta) into the pulmonary arteries of a kid with PDA. If the PDA is big, the excess blood pushed into the lung arteries causes the heart and lungs to work harder, and the lungs might get clogged.


Pulmonary Valve Stenosis:

A cardiac valve that has swollen or fused and does not fully open. The pulmonary valve permits blood to pass from the heart to the pulmonary artery, which subsequently leads to the lungs. The right side of the heart normally pumps blood to the lungs. In a kid with PS, the pressure in the right pumping chamber (right ventricle) is significantly greater than usual, requiring the heart to work harder to push blood out into the pulmonary arteries. This might cause harm to the strained cardiac muscle over time.


Single Ventricle Defects:

Rare cardiac conditions that affect just one lower chamber. The chamber might be smaller, less developed, or without a valve.

Hypoplastic Left Heart Syndrome (HLHS) — The left side of the heart is underdeveloped. The aorta and left ventricle are too tiny, and the artery and septum holes did not grow and seal correctly.

Pulmonary Atresia/Intact Ventricular Septum — The pulmonary valve does not exist, and the only blood that receives oxygen is that which is directed to the lungs via holes that ordinarily seal during development.

Tricuspid Atresia — Because the heart lacks a tricuspid valve, blood cannot flow normally from the body into the heart. Because the blood is not being properly replenished with oxygen, the regular cycle of body-heart-lungs-heart-body is not completed.


Tetralogy of Fallot:

A cardiac defect characterized by four issues. They are as follows:

  • A hole between the lower chambers of the heart 
  • A blockage from the heart to the lungs
  • The muscle encircling the lower right chamber thickens excessively.

The left side of the heart normally only pumps blood to the body, whereas the right side of the heart only pumps blood to the lungs. In a kid with Tetralogy of Fallot, blood can flow from the right pumping chamber (right ventricle) to the left pumping chamber (left ventricle) across the hole and out into the body artery (aorta). An obstruction in the pulmonary valve that connects the right ventricle to the lung artery hinders proper blood flow to the lungs. The pulmonary valve might become fully blocked at times (pulmonary atresia).


Ventricular Septal Defect (VSD):

A VSD is a hole in the wall that separates the two bottom chambers of the heart. In normal development, the wall between the chambers shuts before the fetus is delivered, preventing oxygen-rich blood from mixing with oxygen-poor blood. If the hole does not seal, it might lead to increased heart pressure or decreased oxygen supply to the body.

The left side of the heart normally only pumps blood to the body, whereas the right side of the heart only pumps blood to the lungs. Blood can flow through the hole from the left pumping chamber (left ventricle) to the right pumping chamber (right ventricle) and out into the pulmonary arteries in a child with VSD. If the VSD is significant, the excess blood pushed into the pulmonary arteries strains the heart and lungs, and the lungs might become clogged.


How is Atelocardia diagnosed?

Atelocardia diagnosis

If a kid experiences development delays or changes in the color of his or her lips, tongue, or fingernails after delivery, a health care professional may suspect a congenital heart issue. While listening to the child's heart using a stethoscope, the caregiver may hear a heart sound (murmur). Most heart murmurs are harmless, which means there is no heart problem and the murmur is not harmful to your child's health. Some murmurs, however, may be caused by changes in blood flow to and from the heart.

The following tests are used to detect a congenital cardiac defect:

  • Pulse oximetry. The quantity of oxygen in the blood is measured using a sensor put on the fingertip. A lack of oxygen may indicate a heart or lung disease.
  • Electrocardiogram (ECG or EKG). The electrical activity of the heart is recorded with this noninvasive test. On the chest, sticky patches containing sensors (electrodes) are applied. The patches are linked by wires to a computer, which shows the results. An ECG can aid in the diagnosis of abnormal cardiac rhythms (arrhythmias).
  • Echocardiogram. An echocardiogram creates pictures of the heart in action by using sound waves (ultrasound). It depicts how blood flows through the heart and its valves. A fetal echocardiography is an echocardiogram performed on a baby before birth.
  • Chest X-ray. A chest X-ray reveals the state of the heart and lungs. It can reveal if the heart is enlarged or whether the lungs contain excess blood or fluid. These might be symptoms of heart failure.
  • Cardiac catheterization. A thin, flexible tube (catheter) is placed into a blood artery, commonly in the groin, and directed to the heart during this test. Catheterization can offer extensive information on blood flow and the operation of the heart. During cardiac catheterization, several heart therapies are possible.
  • Heart magnetic resonance imaging (MRI). A cardiac MRI can be used to diagnose and assess congenital heart abnormalities in adolescents and adults. A heart MRI produces 3D images of the heart, allowing for exact measuring of the heart chambers.


How is Atelocardia treated?

atelocardia treatment

The treatment of congenital heart problems in children varies dependent on the kind of heart defect and its severity. A congenital cardiac abnormality may have no long-term effect on a child's health and may be untreated in some cases. Other congenital heart problems, such as a tiny hole in the heart, may heal naturally as a kid grows older.

Serious congenital cardiac abnormalities need treatment as soon as they are discovered. Medication, cardiac treatments or surgeries, or a heart transplant may be used in treatment.


Medical management:

Medications may be used to address symptoms or consequences associated with a congenital heart condition. They can be used alone or in conjunction with a cardiac treatment. Among the medications used to treat congenital cardiac abnormalities are:

  • Blood pressure drugs. Angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs), and beta blockers are a few examples.
  • Water pills (diuretics). This type of drug decreases the quantity of fluid in the body, which lessens the pressure on the heart.
  • Heart rhythm drugs. These anti-arrhythmic drugs aid in the regulation of an irregular heartbeat (arrhythmia). 


Surgical procedures:

A cardiac treatment or surgery may be needed if your kid has a serious congenital heart problem. The following cardiac treatments and operations are used to address congenital heart defects:

  • Cardiac catheterization. Some congenital cardiac problems can be corrected without open-heart surgery by employing thin, flexible tubes (catheters). Cardiac catheterization, for example, can be used to repair holes in the heart or narrowing sections.

During cardiac catheterization, a health care worker inserts one or more catheters into a blood artery, generally in the groin, and into the heart. To fix the defect, tiny instruments are inserted via the catheter and into the heart. Some catheter treatments must be completed in stages over several years.

  • Heart surgery. To cure a congenital heart problem, a child may require open-heart surgery or minimally invasive cardiac surgery. The sort of cardiac surgery required is determined on the exact defect.
  • Heart transplant. A heart transplant may be required if a major cardiac defect cannot be fixed.
  • Fetal cardiac intervention. If a major issue is discovered before delivery, a surgery can be performed during pregnancy to fix the condition or assist decrease difficulties as the child grows. Fetal cardiac intervention is uncommon and only achievable in extremely particular conditions.

Some children with congenital cardiac abnormalities will require several treatments and operations throughout their lives. Following congenital heart defect surgery, a kid will require frequent heart doctor examinations (cardiologist).


How can I prevent Atelocardia in my baby?

Atelocardia Prevention

Because the actual origin of most atelocardia is unclear, it is probable that certain situations cannot be avoided. If you are at high risk of having a child with a congenital heart ailment, you may be subjected to genetic testing and screening during your pregnancy.

There are several actions you may do to assist minimize your child's overall risk of birth abnormalities, such as:

  • Get proper prenatal care. Prenatal checks with a health care practitioner can help keep mom and baby healthy.
  • Take a multivitamin with folic acid. It has been demonstrated that taking 400 micrograms of folic acid daily reduces birth abnormalities in the brain and spinal cord. It may also help minimize the chance of cardiac abnormalities.
  • Don't drink or smoke. These lifestyle choices can be harmful to a baby's health. Avoid secondhand smoking as well.
  • Get a rubella (German measles) vaccine. A rubella infection during pregnancy may have an impact on the heart development of the infant. Get immunized before attempting to conceive.
  • Control blood sugar. If you have diabetes, effective blood sugar control can lower the chance of congenital heart abnormalities.
  • Manage chronic health conditions. If you have any other medical disorders, including phenylketonuria, consult with your doctor about the best method to treat and manage them.
  • Avoid harmful substances. Allow someone else to paint and clean with strong-smelling materials when pregnant.
  • Check with your provider before taking any medications. Some drugs have been linked to birth abnormalities. Inform your clinician about all drugs you use, including those purchased without a prescription.



congenital heart defects

Atelocardia or congenital heart defects (CHDs) are structural issues with the heart. The term "congenital" refers to difficulties that exist at birth. When a baby's heart does not grow correctly during pregnancy, several abnormalities occur. The most prevalent form of birth abnormality is congenital cardiac abnormalities.

Congenital cardiac abnormalities can alter the manner in which the heart pumps blood. They can cause blood to flow too slowly, in the incorrect direction, or entirely stop it. Congenital cardiac abnormalities can in a variety of forms. They may occur in one or more areas of the heart. The most prevalent kinds are as follows:

  • Septal defects ("hole in the heart") - holes in the heart's wall between the left and right sides.
  • Heart valve defects - issues with the valves that govern blood flow through the heart.
  • Defects in the large blood vessels that transport blood to and from the heart.

Congenital heart abnormalities can range from minor issues that never require treatment to life-threatening issues at birth. Critical congenital heart disease refers to the most severe congenital heart abnormalities. Babies with congenital abnormalities typically require surgery within their first year of life. However, symptoms of minor cardiac abnormalities may not manifest themselves until adolescence or age.