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Genetic heart disease if diagnosed early in childhood may have a genetic or hereditary cause. Several genetic conditions are linked to an increased risk of congenital heart disease, the most well-known of which is Down’s syndrome, but there are many more. As per Dr. Sujay Shad, the Best Cardiac Surgeon in India, these conditions can now be diagnosed earlier in life. Sometimes, they are treated before birth due to advances in foetal medicine and more advanced ultrasound equipment.
Read on to learn more about inherited heart diseases from Dr. Sujay Shad, a senior heart surgeon at Sir Ganga Ram Hospital.
Inherited Cardiac Conditions (Genetic Disorders)
1. Cardiomyopathy
Cardiomyopathy is a health condition of heart muscles in which it is hard for the heart to pump blood. It can be caused by other heart and circulatory diseases (acquired cardiomyopathy), but it can also be genetic, meaning that a defective gene can be passed down in families. Some family members may be affected more severely than others, while others may be unaffected or exhibit no symptoms.
Types of Cardiomyopathy
a) Hypercardiomyopathy (HCM)
HCM is a hereditary disorder caused by a change or mutation in one or more genes typically passed down through families. In fact A child of someone with HCM has a 50% chance of inheriting the disease. Symptoms may include chest pain, light-headedness, fainting, palpitations, and difficulty breathing.
b) Dilated cardiomyopathy (DCM)
Dilated cardiomyopathy is a heart muscle disease in which the muscular walls expand and thin. Because the thinner walls are compromised, the heart cannot effectively squeeze (contract) to pump blood throughout the body.
c) Arrhythmogenic cardiomyopathy (ACM)
ACM is a condition in which the cells in the heart muscle do not adhere properly. The heart’s walls can weaken, and the heart may not be able to pump blood as efficiently as it should.
2. Long QT Syndrome (LQTS)
LQTS is a channelopathy, a disease in which the ion channels do not function properly. Ions are charged atoms that allow electrical messages to flow into and out of cells via specific channels, allowing the body to function normally. Ions of many types, including potassium and sodium, are necessary for the practical function of the heart’s electrical system.
3. Brugada Syndrome
Brugada Syndrome is a rare condition that alters the electrical signals that regulate the heart rate. It generates an abnormally quick heartbeat. It can be life-threatening for some people, but treatment can reduce the risks and help patients manage the disease.
4. Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
CPVT is caused by a defective gene inherited from one of the parents. Proteins in the heart’s cells control the release of calcium ions. If these proteins do not work correctly then the calcium level inside the cells may rise. Extra calcium can cause arrhythmias, which are irregular cardiac rhythms. CPVT, in particular, generates ventricular tachycardia, a very rapid heartbeat.
Symptoms of Inherited Heart Disease
Signs and symptoms of inherited heart disease differ depending on the specific condition. If someone is experiencing symptoms, consulting the best cardiac surgeon with enough knowledge and experience in treating heart conditions is essential.
These signs and symptoms by best cardiac surgeon are:
- Chest pain
- Fainting
- Fatigue or not being able to do exercise
- Dizziness
- Heart palpitations (feeling like the heart is skipping a beat)
- Difficulty in breathing.
What is the diagnostic method for inherited heart disease?
If someone suspects they may have inherited heart disease, then the doctor will likely conduct a series of tests. These may include physical exams, a review of their medical history, and an analysis of symptoms. This comprehensive approach is necessary to diagnose the condition accurately.
- Genetic testing: Genetic testing is highly recommended for individuals showing signs of an inherited condition. This proactive step can empower someone with knowledge about their risk, as it can identify specific gene mutations associated with certain heart conditions. These test results can enable early intervention and help you make informed decisions about your health. If a gene mutation relevant to the disease is detected, tests for immediate family members are also advised. This approach helps prevent potential issues by enabling yearly screenings early.
- Diagnostic testing: The heart specialist may recommend genetic testing to check the heart function and other cardiovascular conditions. These tests include:
- Echocardiogram: This is an ultrasound of the heart, such as a transesophageal echocardiogram (TEE), that obtains images of the valves and other parts of the heart.
- Electrocardiogram (EKG): This test checks the heart’s electrical activity.
- Radiographic Imaging: This is used to obtain a heart image, such as a CT scan or cardiac MRI.
- Stress Test: It is conducted to see heart functions when functioning hard.
- Cardiac Catheterization: This procedure is minimally invasive and used to test the heart’s internal structures.
Treatments and Procedures for Inherited Heart Disease
Best Cardiac Surgeon in India, Dr. Sujay Shad, suggests various treatments if a person is diagnosed with an inherited heart condition. However One or more treatments may be recommended for managing hereditary heart disease.
Following are the care plans depending on the conditions:
- Lifestyle changes
- Healthy living
- Medication
- Cardiovascular surgery
- Implantable cardioverter defibrillator (ICD).
Different heart conditions require different treatments, and the best heart surgery specialist in Delhi at Sir Ganga Ram Hospital is there to recommend the most suitable treatment plan. It is according to an individual’s condition, giving you the confidence that you’re in good hands.
Note:
- Not every genetic heart disease is diagnosed early in childhood.
- Some are detected in the uterus, some after birth, or during the early childhood phase, and some are apparent in later stages of life.
For more details, meet Dr. Sujay Shad at Sir Ganga Ram Hospital.
