Congenital heart disease is one of the most common congenital malformations in children and poses a great challenge to the medical community, which requires parents to have high medical awareness and be aware of symptoms of heart disease in newborns, which helps in early diagnosis and rapid therapeutic intervention to ensure the infant’s survival and improve the quality of life.
Heart disease affects 8 to 10 children per 1,000 births, or 1% of live births, and may be congenital, meaning present at birth or acquired during the perinatal period, and many cases can be detected early by recognizing symptoms of heart disease in newborns and improve the child’s chances of survival and proper development.
What is congenital heart disease in newborns?
Congenital heart diseases are issues in the structure of the heart that are present from birth and affect normal blood flow, and symptoms of heart disease in newborns vary, from simple defects that do not require treatment, to more complex symptoms of heart disease in newborns that require several surgical interventions over several years, as there are some known factors that increase the risk of injury, such as Down syndrome or the mother’s infection with an infection such as rubella, in addition to the mother taking types of medication during pregnancy or smoking and drinking alcohol, and symptoms of heart disease in newborns may result from uncontrolled type 1 or 2 diabetes in the mother.
Congenital heart disease may include a hole in the heart wall, issues with blood vessels (too many or too few), as well as issues with the heart valves that control blood flow. Many cases are usually diagnosed before the baby is born through an ultrasound scan, but sometimes a heart defect is not diagnosed until childhood, adolescence, or adulthood, as symptoms of heart disease in newborns.
Common types of congenital heart disease
Congenital heart diseases are divided into simple defects and complex defects, as simple diseases are characterized by the fact that they may improve on their own without the need for surgery, and some children do not show symptoms of heart disease in newborns, such as interatrial hole, interventricular hole, patent ductus arteriosus, and pulmonary artery stenosis. While complex diseases are characterized by the fact that they may cause life-threatening symptoms of heart disease in newborns and require immediate treatment, such as tetralogy of Fallot, and children with these critical conditions are often born with low oxygen levels and require surgery within the first year of life.
Why is it important to detect symptoms of heart disease in newborns early?
Early detection of symptoms of heart disease in newborns helps ensure that children receive timely care and treatment, and early intervention can prevent disability or death in early life, as studies have shown that screening a baby with pulse oximetry can reduce early infant deaths from congenital heart disease by 33%.
In addition, early diagnosis of symptoms of heart disease in newborns helps prevent serious complications and improves the chances of successful treatment, as many conditions can be treated surgically or via catheterization if diagnosed early. Early detection also helps prevent hypoxia, as some heart defects lead to cyanosis, which affects the development of organs, especially the brain. In addition to the above, the worsening of unseen symptoms of heart disease in newborns can be avoided, as some conditions, such as aortic stenosis, may suddenly worsen and lead to cardiogenic shock.
Signs of heart disease in infants right after birth
Signs of heart disease in infants vary, and are usually detected immediately after birth, or during the first months of the child’s life, and the severity of symptoms varies according to the number of congenital defects, the severity of the condition, and the type of congenital defect, including these symptoms:
- Difficulty feeding or poor weight gain
- Cyanosis
- Rapid breathing or labored breathing
- excessive drowsiness
- Having a heart murmur (an abnormal sound made by the heart)
- Swelling in the legs, abdomen, or around the eyes
- Poor circulation
- Weak pulse or strong, abnormal heartbeat
Difficulty feeding or poor weight gain
The difficulty of breastfeeding in children with heart disease lies in the weakness of the muscles, which hinders the sucking process, in addition to factors associated with heart disease, such as rapid breathing and increased metabolic rate, which is one of the main reasons for the difficulty of weight gain, and poor intestinal absorption as a result of poor blood perfusion to the intestines, and these characteristics appear from birth and may continue throughout the stages of the child’s development, depending on the type of heart defect present.
Blue skin or lips (cyanosis)
One of the most common symptoms of heart disease in newborns is cyanosis, a condition in which the skin, lips, or nails turn blue due to a lack of oxygen in the blood. If the patient has dark skin, it may be easier to notice cyanosis as a symptom of heart disease in newborns in the lips, gums, nails, or around the eyes. Cyanosis indicates that the body’s organs, muscles, or tissues are not getting enough oxygen-laden blood to function normally.
There are many conditions that can cause cyanosis as a symptom of heart disease in newborns, and although a blue color in the skin or lips is not always a cause for concern, some cases may indicate serious heart disease.
Rapid breathing or labored breathing
Rapid breathing and labored breathing are the most common signs of heart disease in infants with congenital heart defects, and are usually caused by increased blood flow to the lungs due to increased pulmonary circulation, or backflow of blood to the lungs due to poor pumping ability of the heart or some type of blockage in the heart or blood vessels. The most common congenital heart defects that cause rapid breathing include ventricular septal defect (VSD), patent ductus arteriosus (PDA), and aortic valve stenosis. Rapid breathing can also be observed in tetralogy of Fallot, as well as the absence of a tricuspid valve.
Rapid breathing can cause several issues. In addition to making the infant uncomfortable, it often makes feeding difficult. Finally, the infant’s metabolic rate may be elevated, causing slower-than-normal weight gain.
Swelling in the legs or abdomen
Several types of heart disease can cause edema or swelling, including congestive heart failure, cardiomyopathy, and congenital heart defects. Since the heart pumps blood to the body’s organs, poor heart function can cause edema in several ways. If a child’s heart is not pumping blood efficiently, blood may collect in parts far from the heart, such as the legs, ankles, and feet, increasing pressure on the tiny blood vessels known as capillaries. This can lead to blood leaking into neighboring tissues, causing swelling.
In addition, poor heart function causes the kidneys to sense a lower blood volume and begin to retain water and sodium, further contributing to edema.
When are the symptoms of heart disease in newborns serious and require urgent intervention?
Symptoms of heart disease in newborns are serious and require urgent intervention when they include certain symptoms such as:
- Persistent or severe cyanosis, especially for no apparent reason
- Severe difficulty breathing or stopping breathing
- Refusing to feed completely or vomiting with every feeding
- Lethargy or temporary loss of consciousness
- Very fast or slow heartbeat
- Extreme pallor or cold extremities
The appearance of any symptoms of heart disease in newborns requires the child to be taken immediately to a doctor or emergency room for evaluation and treatment.
The difference between the symptoms of heart failure and the symptoms of heart abnormalities
Heart failure does not cause the heart to stop working completely, but fortunately, heart failure means that the heart does not pump enough blood to the rest of the body, and this eventually leads to a lack of oxygen in other parts of the body, because the heart cannot handle the required amount of blood, and often leads to leakage of blood and fluid to the lungs, feet or legs, and it is a symptom of heart failure:
- Shortness of breath and chest pain
- fatigue and fatigue
- Swelling in the legs, ankles, and feet
- Fast or irregular heartbeat
- Abdominal bloating with loss of appetite
- Rapid weight gain due to fluid retention
As for the symptoms of cardiac malformations, they are as we mentioned earlier:
- Difficulty feeding or poor weight gain
- Cyanosis
- Rapid breathing or labored breathing
- Swelling in the legs, abdomen, or around the eyes
How are heart issues diagnosed in newborns?
Doctors can diagnose heart issues in newborns as soon as the baby is born in some cases, for example, they can diagnose cyanotic heart defects using pulse oximetry. However, heart defects may not be diagnosed until later in life, and there are some tests that help diagnose heart issues in newborns, including:
- Clinical examination: The doctor listens to the heart for abnormal sounds and looks for signs of heart disease in infants during the clinical examination.
- Chest X-ray: It shows images of the inside of the chest to detect any abnormalities in the structure of the heart.
- Cardiac catheterization: It can assess the efficiency with which the heart pumps blood.
- Cardiac magnetic resonance imaging (MRI)
- Electrocardiogram (EKG or ECG)
- Echocardiography (ultrasound)
- Pulse Oximetry
The role of ECG and ultrasound in diagnosis
ECG and ultrasound play an important role in diagnosing heart issues in newborns. ECG is a quick test that records the electrical activity of the heart and shows how it beats. Sticky electrodes are placed on the chest and sometimes on the arms or legs, and are connected by wires to a computer that displays the results, while ultrasound, or what is called echocardiography, uses sound waves to display the heart as it moves, showing how blood flows through the heart and its valves, and shows how the blood flows through the heart and its valves.
The importance of pulse oximetry in early detection
The pulse oximetry test is one of the most important tests for diagnosing symptoms of heart disease in newborns, and its importance lies in its ability to quickly detect hypoxia, as it is used to measure the amount of oxygen in the blood by placing a special sensor on the tip of the finger, ear, or toe. It emits light waves, and this sensor is connected to a computer that measures how these light waves are absorbed. The presence of oxygen in the blood affects how the light waves are absorbed.
This sensor is connected to a computer that measures how these light waves are absorbed, so by analyzing the results, the computer can quickly determine the amount of oxygen in the blood, helping to identify symptoms of heart disease in newborns early.
What is the next step after a newborn shows symptoms of heart disease in newborns?
After showing symptoms of heart disease in newborns, the child should be taken to the emergency department immediately, especially if the symptoms are severe (such as severe cyanosis or difficulty breathing). The cause of cyanosis can be confirmed through the squat maneuver, which is applied by lifting the infant’s legs up towards the abdomen, and if the cyanosis improves, it indicates a right-to-left blood shunt, as seen in Tetralogy of Fallot.
Afterward, the medical team diagnoses the case and begins treatment, and the type of treatment depends on the congenital defect or disease causing the symptoms of heart disease in newborns. High-risk heart defects usually require surgical or catheter-based intervention, where a thin, hollow tube is inserted into the heart through an artery, along with periodic follow-up of the heart condition throughout adulthood by a congenital heart disease specialist. In some cases, medications may be used to relieve symptoms or stabilize the condition before and after surgery or intervention, including diuretics, digoxin, and blood pressure medications like ACE inhibitors, angiotensin II receptor blockers (ARBs), or beta-blockers.
The difference between visible symptoms and silent diseases that can only be detected by testing
When talking about the symptoms of heart disease in newborns, there are some symptoms that are clearly visible and do not require any tests or tests to be detected, such as cyanosis, difficulty breathing, delayed weight gain and difficulty in feeding, but there are many silent diseases and cardiac malformations that affect the child and do not cause obvious symptoms in the first period of the child’s life, such as aortic stenosis and patent ductus arteriosus, and these malformations need medical examinations and tests to be detected, such as pulse oximetry, ECG and other other tests.
In conclusion, the symptoms of heart disease in newborns represent a very important indicator for the early detection of cardiac malformations and other cardiac diseases, and these symptoms appear clearly in some cases and remain hidden in other cases. Therefore, educating medical staff and parents about the symptoms of heart disease in newborns will contribute to reducing the rates of complications and mortality associated with it.
Sources:
- López, C., Galarce, F., Alarcón, M. E., & Santos, J. L. (2021). Breastfeeding in children with Down syndrome and congenital heart disease. Journal of Pediatric Surgery Case Reports
- NHS. (n.d.). Congenital heart disease. NHS. Retrieved May 18, 2025
- Centers for Disease Control and Prevention. (2025, March 14). Clinical screening and diagnosis for critical congenital heart defects
