Congenital Heart Disease | Dr Raghu

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Congenital heart diseases are diseases that are present from birth and affect the normal heart functioning. These are the most frequently occurring congenital disorder, responsible for 28% of all congenital birth defects. The birth prevalence of CHD is reported to be 8-12/1000 live births. Considering a rate of 9/1000, about 1.35 million babies are born with CHD each year globally.

What are the causes of congenital heart defects?

In most cases, no obvious cause of congenital heart disease is identified. However, some things are known to increase the risk of the condition, including:

  • Down’s syndrome – a genetic disorder that affects a baby’s normal physical development and causes learning difficulties
  • the mother having certain infections, such as rubella, during pregnancy
  • the mother taking certain types of medicine during pregnancy, including statins and some acne medicines
  • the mother smoking or drinking alcohol during pregnancy
  • the mother having poorly controlled type 1 diabetes or type 2 diabetes
  • other chromosome defects, where genes may be altered from normal and can be inherited (run in the family)

Many cases of congenital heart disease can be diagnosed before a baby is born during an ultrasound scan in pregnancy. At times a focused foetal heart scan called foetal echocardiography in specialized centers helps to diagnose the cardiac problem before birth. However, it’s not always possible to detect congenital heart defects in this way.

congenital heart disease

Signs and symptoms

Congenital heart disease can have a number of symptoms, particularly in babies and children, including:

  • Rapid heartbeat
  • Rapid breathing
  • Swelling of the legs, tummy or around the eyes
  • Extreme tiredness and fatigue
  • A blue tinge to the skin or lips (cyanosis)
  • Tiredness and rapid breathing when a baby is feeding

These problems are sometimes noticeable soon after birth, although mild defects may not cause any problems until later in life.

Types of congenital heart disease

There are many types of congenital heart disease and they sometimes occur in combination. Some of the more common defects include:

  • Septal defects – where there’s a hole between 2 of the heart’s chambers (commonly referred to as a “hole in the heart”)
  • Coarctation of the aorta – where the main large artery of the body, called the aorta, is narrower than normal
  • Pulmonary valve stenosis – where the pulmonary valve, which controls the flow of blood out of the lower right chamber of the heart to the lungs, is narrower than normal
  • Transposition of the great arteries – where the pulmonary and aortic valves and the arteries they’re connected to have swapped positions
  • Underdeveloped heart – where part of the heart doesn’t develop properly making it difficult for it to pump enough blood around the body or lungs.

congenital heart disease

Treating congenital heart disease

Treatment for congenital heart disease usually depends on the defect you or your child has.

Mild defects, such as holes in the heart, often don’t need to be treated, as they may improve on their own and may not cause any further problems.

Surgery or interventional procedures are usually required if the defect is significant and causing problems. Modern surgical techniques can often restore most or all of the heart’s normal function.

However, people with congenital heart disease often need treatment throughout their life and therefore require specialist review during childhood and adulthood. This is because people with complex heart problems can develop further problems with their heart rhythm or valves over time.

Most surgery and interventional procedures aren’t considered to be a cure. The affected person’s ability to exercise may be limited and they may need to take extra steps to protect themselves from getting infections.

It’s important that a person with heart disease and their parents or carers discuss these issues with their specialist medical team.

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      Patent ductus arteriosus (PDA) is a congenital heart condition in which there is an opening between the pulmonary artery and the aorta. The ductus arteriosus is a small connection in the fetal heart helps oxygen rich blood to by-pass the immature baby’s lungs and flow into the body. This connection naturally closes shortly after birth. The connections that fail to close, are called patent ductus arteriosus, where the oxygen-rich and oxygen-poor combines together resulting in an increase in the workload of heart and various other complications.

      It is the sixth most common type of congenital heart disease, and is frequently diagnosed in infants; although it may remain unknown until childhood or even adulthood.

      Symptoms:

      The symptoms depend on the size of the patent duct and the gestational age of the neonate. A small patent ductus arteriosus can remain unrecognized until adulthood, whereas, a large patent ductus arteriosus may lead to life threatening conditions such as heart failure.

      In neonates, a heart murmur on examination with a stethoscope during regular checkup may indicate PDA.

      In infants, a large PDA would show the following symptoms:

      • Inability or difficulty in feeding, leading to poor growth
      • Sweating on crying or eating
      • Persistent fast breathing or breathlessness
      • Cough
      • Lower respiratory tract infections
      • Pneumonia
      • Easy tiring
      • Rapid heart rate

      The symptoms in the case of adults with undiagnosed PDA include heart failure, fast heart beating (atrial fibrillation) or with the reversal of shunting – unoxygenated blood from the right side of heart to the left side of heart.

      Causes:

      In most of the children the cause of PDA is unknown, but genetic factors are thought to play a causative role. 

      Every baby is born with ductus arteriosus which eventually narrows and closes within three to four days after birth. It may take longer time for closure in the case of premature babies. 

      But if the duct doesn’t close, it may lead to an increase in the blood flow to the heart and lungs of the baby, which might enlarge or weaken the heart muscle.

      Risk factors:

      The risk factors of having patent ductus arteriosus include:

      • Gender: PDA is more common in girls than in boys.
      • Prematurity: It is more common in babies who are born before the gestational term than in full term babies.
      • Family history: A family history of heart conditions and other genetic disorders, such as Down’s syndrome may increase the risk of PDA.
      • Rubella infection: If the mother is affected with rubella infection during pregnancy, the virus may cross the placenta and spread through the baby’s circulatory system potentially damaging blood vessels and organs including the heart.
      • High altitude birth risk: Babies born at altitudes higher than 10,000 feet are at an increased risk.
      • Congenital heart problems: Babies with congenital heart problems such as hypoplastic left heart syndrome, transposition of the great vessels, and pulmonary stenosis are at high risk.

      Diagnosis:

      A heart murmur heard during a regular checkup may lead to further work-up for PDA.

      The following tests Are recommended for diagnosis of PDA:

      • Chest X-ray to assess the condition of the heart and lungs, and also to rule out other conditions
      • Echocardiogram to assess the heart, its valves and chambers for any defects and see if the heart is pumping properly
      • Electrocardiogram (ECG) to assess the electrical activity of the heart to diagnose any heart defects or rhythm problems
      • Cardiac catheterization to rule out other congenital heart defects found during an echocardiogram or in a case where the catheter procedure is considered for the treatment.

      Treatment:

      Treatment is generally not considered, as the PDA usually closes on its own in the case of a premature baby. Close monitoring is considered for full term babies, children and adults with small PDA and with no other health complications. During follow-up, if the baby does not have any other complications, it is considered to be closed. On the other hand, if the baby has certain heart problems or defects, the ductus arteriosus might be lifesaving.

      In a premature baby, it may take one to two years. But in full term babies, PDA that remains open after several weeks rarely closes on its own.

      Medicines such as indomethacin or ibuprofen may be considered. These medicines work well for some newborns. The earlier treatment is given the greater are the chances for it to succeed.

      Medical procedures may be considered in the case where medications are not effective. 

      A transcatheter procedure is used to block blood flow through the vessel. This is usually using an umbrella device that closes the PDA. This procedure does not require general anesthesia and requires hospital stay less than 24 hours. 

       An open heart surgery might be considered if the catheter procedure is not suitable to repair PDA. This is usually reserved for very large ductus and other associated heart defects.

      Prevention:

      Patent ductus arteriosus may not be prevented, but certain measures should be observed for a healthy pregnancy.

      • Early prenatal care
      • Healthy diet
      • Regular exercise
      • Avoiding consumption of alcohol, illegal drugs and cigarettes.
      • Getting vaccinated as recommended.
      • Optimal diabetes control.
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          The heart consists of four chambers, of which upper two chambers are called as atria and lower two chambers are called as ventricles. Right and left chambers are separated by a wall of muscle called a septum. The septum separating the atria is called inter atrial septum and the once between the two ventricles in inter ventricular septum.

          Right two chambers – right atrium and right ventricle pump the deoxygenated blood collected from various parts of the body to the lungs. Blood gets saturated with oxygen in the lungs and returns back to the left side of the heart.

          Ventricular septal defects (VSD) is a common type of congenital heart defect, which is characterized by an abnormal opening or a hole in the interventricular septum, the dividing wall between right and left ventricles. The oxygen-rich blood from the left ventricle will enter into the right ventricle through the opening, thereby getting mixed with deoxygenated blood which then enters into lungs. This will force the heart and lungs to work harder.

          Causes:

          The exact cause of VSD is unknown. During fetal heart developmental stage, the heart develops from a large tube which eventually divides into chambers and walls. Any abnormality in this process will lead to the formation of a defect in the septum. If the defect is in the interventricular septum, then it is said to be ventricular septal defect. There may be one or more VSDs.

          ventricular septal defects

          Types:

          Based on the location and development of VSD, it is classified into following types:

          • Conoventricular Ventricular Septal Defect: It occurs just below the pulmonary and aortic valves.
          • Perimembranous Ventricular Septal Defect: It occurs in the upper part of the ventricular septum.
          • Inlet Ventricular Septal Defect: It occurs adjacent to the tricuspid and mitral valves. This type of defect might be associated with atrial septal defect.
          • Muscular Ventricular Septal Defect: It is the most common type of VSD, which occurs in the lower muscular part of the interventricular septum.

          Signs and symptoms:

          Small defects in the septum do not show any symptoms because it closes on its own gradually during childhood.

          Large defects show signs and symptoms usually after birth within a few weeks or months.

          The first sign of VSD is heart murmur, which is a whooshing sound that can be heard using a stethoscope. The other symptoms include:

          • Fatigue (tiredness)
          • Arrhythmias (abnormal heart rhythm)
          • Fast breathing or breathlessness
          • Poor feeding
          • Poor weight gain
          • Pale skin
          • Enlarged liver

          Risk factors:

          Ventricular septal defects mostly occur due to defective genes and chromosomes, that may be hereditary.

          Environmental factors during pregnancy may also play a role in development of VSD in the fetus.

          Complications:

          Large or medium septal defects if left untreated, may lead to life threatening complications such as:

          • Heart failure, as heart need to work harder to pump enough blood to the body.
          • Pulmonary hypertension (increased blood flow to the lungs results in increased blood pressure in the lung arteries).
          • Endocarditis (infection in the endocardium of heart).
          • Other heart problems such as abnormal heart rhythms and valve problems.

          ventricular septal defects

          Diagnosis:

          If heart murmurs are detected during the physical examination, the patient may be advised further testing to conform the diagnosis.

          • Echocardiogram: This test is the primary tool for the diagnosis of VSD, as it can be used to determine the size, location and severity of the ventricular septal defect. Sound waves are used to produce the detailed images of the heart.
          • Electrocardiogram (ECG): This test records the electrical activity of the heart and helps to identify the abnormal heart rhythms and defects in the septum.
          • Chest X-ray: X-rays are used to view the images of heart and lungs. In VSD, this test helps to determine the enlarged heart and extra fluid in the lungs.
          • Cardiac catheterization: The test involves inserting a thin, flexible tube into the blood vessel at the groin or an arm, which is guided to the heart, to identify any congenital heart defects and to determine the function of the heart chambers and its valves.
          • Pulse oximetry: Oxygen levels in the blood can be measured using a small clip which is placed on the fingertip.

          Treatment:

          Usually treatment is not needed for small VSDs, as they close on their own gradually after birth. 

          Babies with larger VSD need surgery to prevent any further complications. 

          The treatment for ventricular septal defects include:

          • Medications such as diuretics like furosemide are used to reduce the amount of fluid in the blood that is pumped to the lungs and in the circulation. Beta blockers like metoprolol, propranolol and digoxin are used to maintain the regular heartbeat.
          • Surgical procedures include surgical repair, catheter procedure and hybrid procedure.
            Surgical repair involves open heart surgery, in which the doctor uses a patch or stitches to close the hole, performed under general anaesthesia.
            In catheter procedure, a catheter is inserted into a blood vessel and then passed to the heart. The defect is closed using a specially sized mesh device.
            Hybrid procedure uses both surgical repair and catheterization procedures to close the hole, with the help of a heart-lung machine and a catheter placed through an incision.

          Prevention:

          Ventricular septal defects cannot be prevented, but following certain measures during pregnancy may be helpful to prevent the risk of VSD. The measures include:

          • Prenatal care before pregnancy: Consult a physician before planning for pregnancy and inform him about the family history of any congenital defects and the medications using currently, so that he may give suggestions or recommend some lifestyle modifications to avoid the risk of heart defects.
          • Healthy diet: Having a balanced diet including vitamins and folic acid during pregnancy will help in giving birth to a healthy child without any heart defects.
          • Regular exercise under the supervision of a gynecologist is necessary during pregnancy.
          • Avoid alcohol, tobacco and harmful drug use : during pregnancy to prevent the risk of VSD.
          • Get vaccinated: Check whether you are vaccinated for vaccine-preventable infections before getting pregnant.
          • Control diabetes: Monitor your sugar levels regularly to prevent the risk of heart defects.
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              What is an Atrial Septal Defect or ASD? 

              Heart consists of four chambers, of which upper two chambers are called as atria and lower two chambers are called as ventricles. Atrial septal defect (ASD) is a type of congenital heart defect, in which there is an abnormal opening or a hole in interatrial septum (dividing wall between two atria). This opening allows the passage of pulmonary venous blood from left atrium to right atrium, causing mixing of oxygenated and deoxygenated blood in right atrium and increasing the flow of blood to lungs. The increased blood flow may increase the workload of the lungs, and eventually cause damage to heart and lungs.

              What causes an ASD?

              The exact cause of ASD remains unclear. However, it is believed that during fetal developmental stages, a hole is present in the interatrial septum, which gradually closes before birth or during infancy. If the hole persists, it is called an atrial septal defect.

              Types of Atrial Septal Defect or ASD?

              Based on the location and development of ASD, it is classified into four types:

              • Ostium secundum ASD: It occurs in the middle part of the interatrial septum. This is the most common type of ASD and accounts for 75% of all atrial septal defects. This type of ASD is commonly detected in adults in their third and fourth decades of life. Some can be detected in children when an abnormal heart sound is detected at the time of a routine health check or vaccination visit. 
              • Ostium primum ASD (20%): It occurs in the lower part of the interatrial septum, adjacent to atrioventricular (AV) valves. It usually occurs as a part of other congenital heart defects. This defect is usually detected in early life as this is associated with many complications.
              • Sinus venosis ASD (4%): It occurs in the upper part of the interatrial septum, near the veins that drain into the right and left atrium. This is usually identified in third and fourth decade adults. 
              • Coronary sinus ASD (<1%): It occurs in the interatrial septum between the coronary sinus and the left atrium. This is very uncommon and patients are asymptomatic.

              Signs and symptoms

              Usually after birth, babies who have ASD may not show any associated signs and symptoms. But, symptoms may appear during adulthood around the age of 30 years. Most of them don’t have any symptoms even after many years.

              Some of the common symptoms associated with ASD are:

              • Heart murmur, a swishing sound that can be heard through a stethoscope
              • Heart palpitations
              • Arrhythmias (abnormal heart rhythms)
              • Fatigue (feeling tired mainly after exercise)
              • Shortness of breath
              • Swelling of legs, feet or abdomen
              • Stroke
              • Lung infections such as pneumonia

              Risk factors:

              Genetics and environmental factors usually play a role in congenital heart defects. Some conditions during pregnancy may confer high risk for heart defects, 

              Complications of an untreated ASD:

              • Right-sided heart failure
              • Arrhythmias
              • Increased risk of a stroke
              • Shortened life span
              • Pulmonary hypertension (increased blood flow to the lungs results in increased blood pressure in the lung arteries)
              • Eisenmenger syndrome (pulmonary hypertension causing permanent lung damage)

              Diagnosis:

              Most ASDs are diagnosed incidentally during regular heath check-ups. If a heart murmur is heard during auscultation, you may be advised to undergo further tests to confirm the diagnosis of ASD: 

              • Echocardiogram: It is a specific diagnostic test for ASD, and provides a detailed image of the heart and blood flow through its chambers. The echocardiogram may show the blood flow through the interatrial septum and the size of defect in the septum.
              • Chest X-ray: It helps to identify enlarged heart and lung changes.
              • Electrocardiogram (ECG): It involves recording the electrical activity of the heart, to help identify arrhythmias.
              • Cardiac catheterization: A thin, flexible tube called catheter is inserted into the blood vessel at the groin or arm and is guided to the heart. This test is helpful to determine the function of heart and its valves, and to measure the blood pressure in the lungs.
              • Magnetic resonance imaging (MRI): It uses magnetic and radio waves to create three dimensional images of the heart and other organs. This test is recommended if the ASD is not clearly diagnosed with echocardiogram.
              • Computerized tomography (CT) scan: It uses a series of X-rays to create detailed images of heart; mainly used if echocardiogram doesn’t help to diagnose ASD clearly.

              Treatment:

              Treatment of ASD depends on the age at diagnosis and the size, location and severity of the defect. Small ASDs might not need any treatment because it closes on its own. The doctor may recommend surgery if the atrial septal defect is large, even with fewer symptoms to prevent problems later in life. Treatment of ASD includes medications and surgery.

              • Medications usually do not help in closing the hole, but reduces the signs and symptoms associated with ASD and risks of complications after surgery. Drugs such as beta blockers (to maintain regular heartbeat) and anticoagulants (to prevent the formation of blood clots) are used.
              • Surgery includes cardiac catheterization and open-heart surgery.

              Device closure of ASD

              In cardiac catheterization, the doctor closes the hole in the septum with a mesh patch or a plug in the defect place using a catheter. The heart tissue then grows around the mesh slowly, sealing the hole permanently. This procedure is mainly performed to repair only the secundum type of atrial septal defects. Defects not amenable to closure with device may need open-heart surgery.

              In open-heart surgery, the defect may be closed with stitches or a special patch. This procedure is done under general anesthesia, mainly for repairing primum, sinus venosus and coronary sinus atrial septal defects.

              Prevention of ASD:

              Atrial septal defects cannot be prevented, but following certain measures during pregnancy might be beneficial to prevent the risk of ASD, such as:

              • Immunity test for rubella: If the person is not immune to rubella, it is necessary to get vaccinated.
              • Monitoring current health conditions and medications use: Pre-existing health conditions and usage of any medications should be carefully monitored during pregnancy to prevent the risk of ASD.
              • Reviewing family medical history: If a person has a family history of congenital defects, it is advised to visit a genetic counsellor before becoming pregnant to know the risks of atrial septal defects.
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