Rare Heart Diseases That Affect Children From Birth

Congenital Heart Defect is a condition, which includes a defect in the walls, valves, arteries, and veins of the heart in a newborn child. This imperfection in heart structure can possibly decrease the blood circulation or make it flow in the wrong direction or get completely blocked. This is a rare disease and approximately 9 out of 1000 kids are born every year, with poorly structured heart.

Types of well-known Congenital Heart Defect

• Coarctation of aorta

Aorta is the main and largest blood vessel that transports the blood from the heart to various parts of the body. In Coarctation of aorta, a section of aorta remains constricted or narrow, at birth. It becomes difficult for the heart to pump blood out through the aorta. This heart issue is found in people with a particular genetic disorder like Turner syndrome.

Symptoms

The curved part of aorta points upwards to the head and straight part points downwards. Coarctation of aorta can happen anywhere within the vessel. However, its tendency to occur at the top or aortic arc (C-shaped curve) is more. This makes it hard for blood to go out, so the blood pressure, before the narrowed segment is high, and after the constricted part, is low.

• Headaches from HBP (high blood pressure) 

• Camps in legs 

• Cold legs or feet 

• Abnormal heart sounds 

• Poor weight gain in babies because difficulty in feeding 

• Fainting or dizziness

Symptoms occur only, when the narrowing is severe in the aorta.

Treatment

The narrowed section is repaired, before the child's age turns 10. It can be repaired through balloon angioplasty or open-heart surgery.

• Hypoplastic Left Heart Syndrome (HLHS)

'Hypoplastic' means 'underdeveloped'. In HLHS the heart's left side that includes the left ventricle, aortic valve, mitral valve and aorta do not get developed in the womb. A healthy heart has two ventricles. Right ventricle pumps blood towards the lungs to get oxygenated, whereas the left ventricle pumps the oxygenated blood to the other parts of the body.

In HLHS, the left ventricle is very small to pump blood effectively. Usually, there is a hole in the wall that divides the right ventricle and left ventricle.

Symptoms

In the womb the fetus receives oxygen from the mother's circulation via placenta. In a couple of days, after birth the HLHS symptoms can be seen. This occurs because the placenta is disconnected and the newborn has to depend on its own heart for oxygenated blood circulation.

• Rapid heart beat 

• Rapid breathing 

• Cool, clammy and pale skin 

• Blue color lips and face 

• Weak pulses in arms and legs (because of poor circulation)

Treatment

Infant with HLHS, at birth will be given an IV (intravenous) to enhance blood flow. A series of heart surgeries are performed to reroute the blood in the right ventricle. The right side will perform the functions of both ventricles. Even if possible, a heart transplant surgery can be performed to provide the infant with a well-functioning heart.

• Patent Ductus Arteriosus

In the womb, ductus arteriosus allows the blood to evade the lungs of the baby. After birth as soon as the baby starts to breath, the responsibility of ductus arteriosus gets concluded and it shuts down automatically, in a few days. In certain cases, ductus arteriosus remains open and can cause abnormal blood circulation. This condition is called Patent Ductus Arteriosus. The cause of PDA is still unknown.

Symptoms

• Shortness of breath or rapid breathing 

• Sweating with playing or crying 

• Fast heart rate 

• Tire out easily 

• Poor eating & poor development

Treatment

PDA treatment focuses on closing ductus arteriosus to prevent complications. Closing of PDA is done either through medications, catheter, or surgery.

• Tetralogy of Fallot

A group of 4 heart defects at birth is called Tetralogy of Fallot. The flow of blood gets deteriorated, due to these defects causing a reduction in oxygen level.

The four defects are - 

1. Ventricular septal defect - There is a hole in the muscle wall between right and left side of the heart. 

2. Pulmonary valve stenosis - It is the narrowing of large blood vessel entrance. 

3. Over-riding aorta - Basically, aorta function starts from the left ventricle but in Tetralogy condition it begins from the center of the heart, just over the hole between two sides. 

4. Right ventricular hypertrophy - Due to the upper three heart defects the right side has to overwork, so the heart muscle on that side gets enlarged.

Symptoms

• Bluish tint on the lips, fingernails and skin 

• The tint darkens during activities like crying 

• Abnormal heart murmur 

• While feeding the baby gets tired easily, which hinders the growth 

• Fingertips have abnormal rounded shape

Treatment

Open heart surgery is applied to repair the defects of Tetralogy of Fallot. The pediatric cardiologists continue to check the child regularly, even after surgery. Sometimes, the child may need additional surgery, as they grow up because sudden complications may develop.

• Transposition of great arteries (TGA)

Basically, in normal condition the blood from heart goes to lungs to get oxygenated through pulmonary artery. After it comes back the aorta pumps the oxygenated blood through the body. In TGA, the blood comes to the heart but is pumped out directly without going towards the lungs for getting oxygenated.

Symptoms

• The baby has bluish colored skin 

• Rapid heart rate and breathing

Treatment

The baby receives intravenous medication, shortly after birth. If a hole is present in the hearts mid-wall then a hole will be made surgically. This allows the oxygen to mix with blood that is pumped out. Balloon atrial septostomy technique is used. Although this is a temporary treatment but the baby will require open-heart surgery called arterial switch operation within 4 weeks after birth, to correct the defect.

Aneurysm

Aneurysm is the swelling in the walls of blood vessels especially arteries. The swelling and widening of blood vessels causes them to weaken over time and they can rupture. The most commonly observed causes of aneurysm are congenital defects, uncontrolled high blood pressure and atherosclerosis (growing of fatty deposits in arteries). Aneurysm is usually classified by shape, size and location of the bulge. It is most common in arteries at the base of the brain referred as brain or cerebral aneurysm, and in aortic arteries known as abdominal aortic aneurysm. Although aneurysm can occur at any age it is most commonly observed in adults than children. Women are also found slightly more susceptible than men in this regard.

Aortic Aneurysm:

Aorta is the main artery that supplies blood from heart to the rest of the body. Aneurysm can develop anywhere in the aorta but they are most commonly found in aorta with in the abdominal region below the kidneys. The majority of aneurysms which actually start in the abdominal path of aorta eventually extend up to iliac arteries. It may occur in the chest near the heart as well (thoracic aortic aneurysm). The aortic aneurysm usually does not show any symptoms. Mild to moderate symptoms of aneurysm can sometimes be seen though. Pain in the effected area is a common symptom. One of the main causes of aortic aneurysm is smoking. The smokers over 60 years of age seem to have atherosclerosis. It has to be stopped immediately as it increases the risk of aneurysm's widening.

Treatment:

To treat the aortic aneurysm a procedure known as stenting is performed. After locating the position of the bulge, an X-ray guided polyester tube (stent-graft) is passed through a small cut in upper thigh leading to aorta. Now the blood instead of flowing through the damaged artery flow through the stent-graft and eliminates the chance of rupture.

Brain Aneurysm:

Brain Aneurysm usually originates from the base of the brain where the larger arteries combine. This area is known as circle of willis. The causes of brain aneurysm are generally genetic disorders which includes connective tissue disorders, polycystic kidney disease or some circulatory disorder. Patient having brain aneurysm may be found having the symptoms such as excruciating headache, problem with vision, thinking and decrease in concentration level, difficulty in speech and perception, pain in neck or eye and extreme tiredness.

Treatment:

Surgical clipping and coil embolization are methods usually applied for the treatment of brain aneurysm. Patient has to go through some test to get the right diagnosis after which the doctor will determine the method of treatment that is best suited to repair the blood vessel.