Dr Swapnil Mate Cardiologist

Types Of Congenital Defects

The types of medical conditions, either due to genetic or environmental factors, that majorly affect the heart or kidney, liver, bones, are :-

This type of cardiomyopathy is an inherited cause. Hypertrophic cardiomyopathy is a genetic disorder where the mother, having that mutation in the genes, passes the same genes to her offspring. Another cause of this disorder is Fabry Disease, which is a genetic disorder caused due to the absence of an enzyme called alpha-galactosidase A. This leads to substances build-up in the walls of the coronary arteries and also affects the kidneys and skin. Another genetic disorder that contributes to hypertrophic cardiomyopathy is Friedreich's Ataxia, where there is a mutation in the gene that makes a protein called frataxin. This disease causes loss of sensation in arms and legs and difficulty in a speech that worsens over time. Symptoms of hypertrophic cardiomyopathy include fatigue, swelling of legs, shortness of breath, chest pain, etc

It is a type of cardiomyopathy, where the cardiac muscle does not function properly due to genetic defects in it. It primarily affects the tissues of the right ventricle, with associated irregular heartbeats. It first attacks the right ventricle, which puts a lot of stress on the left ventricle, and then, if not treated, stiffens and weakens both the ventricles. Symptoms include irregular heartbeats, blackouts, heart palpitations, etc.

This is an inherited metabolic disorder caused when the lysosomes fail to break down sphingomyelins, a type of sphingolipids, in cells. Symptoms include low platelet count in the blood, enlargement of spleen, liver, and bone marrow cavities which may cause reduced appetite, pain, difficulty in swallowing, abnormal posturing of limbs, face, slurring of speech, sleep deprivation, etc. Loss of myelin in this disorder majorly affects the central nervous system since myelin sheath assists in the speedy transmission of electrical impulses along the axon

Is a genetic disorder. The genetic mutation interferes with the function of an enzyme called alpha-galactosidase A that processes sphingolipids. This leads to substances build-up in the walls of the coronary arteries and also affects the kidneys and skin. Symptoms include pain in the gastrointestinal tract, kidney failure, presence of protein in the urine, thickening of cardiac muscle, shortness of breath, slow heart rhythms, etc

It is a genetic disorder caused due to mutation of the GALC gene, in which the enzyme galactosylceramidase, is encoded. This disorder gradually damages the nervous system. Symptoms involve irritation, fever, vomiting, deafness. muscle weakness, seizures, blindness, difficulty during swallowing.

Is a disorder where sphingolipids get collected in the cells and other organs. It is characterized by the deficiency of an enzyme called galactosylceramidase, which gets accumulated in the white blood cells. This enzyme gets collected in the spleen, liver, kidneys, lungs, brain. Symptoms include enlargement of the liver, spleen, reduction in white blood cells and platelets, formation of the scar tissue in the liver, low bone density(osteoporosis).

Is a genetic disorder that damages the brain and nerve cells. Symptoms include the child becoming deaf, blind, speech and sound disorder, difficulty in swallowing, etc.

A hereditary condition that reduces the liver's ability to remove low-density lipoprotein. This increases the risk of having a heart attack.

Is a medical condition where the left side of the fetus's heart is underdeveloped. In this syndrome, the infant is very ill and has blue skin color due to the inability of the heart to pump and transfer blood to the body.

This is a condition where the aorta, the blood vessel which is responsible for transporting blood to all organs of the body is very narrow. This might have been due to the underdevelopment of the aorta while the formation of other organs in the fetus's body.

A condition in which a hole develops in the wall that separates the lower chambers of the heart(ventricles).

A condition where the pulmonary valve, the valve responsible for carrying deoxygenated blood from the heart to the lungs is not formed at all.

This is a condition where the arteries or ventricles are underdeveloped or abnormally narrow. Narrowing of the arteries causes hypertension

Caused due to cyanosis, discoloration of the skin(the skin tunes bluish-gray due to lack of oxygen in the body)

A congenital disorder comprising of four cardiac defects, pulmonary stenosis(obstruction of blood flow from the lower right heart chamber to the pulmonary artery), ventricular septal defect, right ventricular hypertrophy, overriding aorta.

A genetic disorder caused due to the presence of a third copy of a chromosome(21). Symptoms include intellectual disability, defects in the mitral valve but they have a lower risk of suffering from a heart attack there have been fewer cases of hardening of arteries in their hearts.

A genetic disorder caused due to a missing X chromosome. Women with Turner syndrome are unable to have children during adulthood. Symptoms include swollen hands and legs during birth, low hairline, etc.

A genetic disorder that affects the bones and causes heart problems.

Comes under congenital heart disorder. This is caused when the electrical signals that help the individual cells of the heart to communicate, are disrupted, leading to a genetic mutation in the person's DNA. Symptoms include blacking out and sudden cardiac death.

This is a medical condition caused due to an accessory pathway in the heart. An accessory pathway is an extra electrical pathway present between the upper and lower chambers of the heart. This results in rapid heartbeats, shortness of breath, chest pain, fatigue, dizziness, etc

Signs And Symptoms

They include :

Chest pain(angina) - described as a sensation of heartburn, tightness, pressure, or squeezing. Even though chest pain may also arise due to non-cardiac causes, if that pain travels to the left arm, right arm, jaw, neck, then there might be a possibility of a heart attack.
Shortness of breath - As the heart rate changes, the breathing pattern will also change simultaneously. If the heart is not pumping blood efficiently, this causes shortness of breath. Therefore, shortness of breath mainly arises due to low oxygen in the blood.
Sweating
Fatigues, dizziness
Nausea or vomiting
Cardiogenic shock due to defects in the ventricles of the heart
Heart palpitations(irregular beatings of the heart)
Sudden death due to ventricular fibrillation(irregular electrical activity of the heart)
The skin turns into a grayish-blue color due to a lack of oxygen in the blood.

Risk Factors

Risk factors leading to congenital heart disorders are :

Valvular disorders-defects in any valves of the heart can reduce the ability to transport deoxygenated blood or receive oxygenated one, leading to heart failure.
Diabetes -When your body does not respond to insulin or does not produce much insulin, glucose remains in the bloodstream. This causes an increase in the blood sugar level. An increase in blood sugar damages the walls of coronary arteries due to fatty deposits in the walls. This reduces the heart's ability to pump blood efficiently.
Smoking and alcohol consumption -actively smoking or consuming alcohol makes the blood sticky, and it is most likely to clot, which can obstruct the blood flow to the heart. It also lowers good cholesterol in the body.
Genes - congenital heart disorders are caused due to gene mutations in the DNA of the mother whose genes the child shares.
Rubella - Also known as German measles, is an infection caused by the rubella virus that transmits to humans via the respiratory route. If the mother has caught this infection, it might severely affect the heart and brain.

Further Complications

Congenital heart diseases, if not treated in time, can lead to:-

Arrhythmia - is a condition referring to abnormalities in heartbeats due to issues in the electrical conduction system of the heart. When the heart beats too slow, it is known as bradycardia, and when beats too fast, it is known as tachycardia. In some cases, arrhythmia arises with no symptoms. Symptoms, if present, may include shortness of breath, palpitations, chest pain, sensing a pause between heartbeats, blackouts, etc. In a few situations, it may even lead to heart failure or sudden cardiac death.
Heart failure - when the heart fails to perform its basic function to pump blood throughout the body, then this medical condition is called congestive heart failure.
Pulmonary hypertension - is caused when the blood pressure in the pulmonary arteries increases. This results in fluid build-up in the arteries of the lungs

Prevention And Treatment

This includes :-

Electrocardiography - electrocardiography measures the electrical activity of the heart by placing electrodes on the skin. This detects the minute changes that take place as a result of the contraction and relaxation of the cardiac muscle. This helps to check the electrical activity of the heart and arrhythmia.
Echocardiogram - In this procedure, a device called a transducer is placed on the top of the chest and ultrasonic waves are sent to the heart bounce off and show the live image of the heart, using a monitor. Intravascular ultrasound uses a catheter instead of a transducer to capture the images of coronary arteries. This helps the specialists to see whether the blood flow is obstructed or not.
Transradial cardiac catheterization - The process usually starts by giving a dose of anesthesia to the patient. Using a needle to trace the artery(radial), a wire is inserted into it which goes all the way to the heart. With the help of the wire, a catheter is inserted which reaches the heart. After the wire is removed. The catheter then carries out the treatment based on the patient's condition. For example, if the patient's coronary arteries are blocked, then using a stent, helps open the blocked blood vessels. After the procedure is done, the catheter is removed and pressure is applied to that area so that the bleeding stops.
Artificial Pacemaker - this device generates electric impulses by the electrodes present in the device that makes the lower and upper heart chambers contract to pump blood. This device regulates the normal function of the electrical system of the heart. Its main purpose is to restore the normal rate of the heart which was either very slow or very fast earlier due to a defect in the natural pacemaker of the heart.
Intravascular ultrasound uses a catheter instead of a transducer to capture the images of coronary arteries. This helps the specialists to see whether the blood flow is obstructed or not. Coronary angiography also uses a catheter, but before inserting it in the body through wrists or legs, it injects a dye into the bloodstream to create X-ray images of the coronary arteries.
Heart valve replacement - the valve is replaced either surgically in case of surgical aortic valve replacement or transcatheter aortic valve replacement where a catheter is used to replace the valve.

The cardiology team of Dr. Swapnil Mate's Cardiology clinic includes experienced cardiologists, cardiac surgeons, cardiac imaging specialists who help detect the problem and recommend the ideal surgery to the patients. They mention the advantages and risks associated with the surgeries they plan to do on their cardiac patients. Consult Dr. Swapnil Mate for the best medical assistance.

What Does Congenital Heart Disease Mean?