Today, we are talking about Inherited Cardiomyopathy. This is a heart disease that runs in families. It weakens the heart muscle, making it too thick, too stiff, or too weak to pump blood properly. Some people have no symptoms, while others feel breathless, get chest pain, or faint.
Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), a leading medical geneticist in India, has helped many families detect and manage inherited heart problems. Finding the disease early can help prevent serious heart issues.
What is Inherited Cardiomyopathy?
The heart is a muscle that pumps blood around the body. In Inherited Cardiomyopathy, the muscle does not work as it should.
This condition is caused by faulty genes passed down in families. If one parent has it, there is a 50% chance their child may get it too.
💡 Some people live with the disease for years without knowing it. Others develop symptoms early in life.
Types of Inherited Cardiomyopathy
There are different types of inherited cardiomyopathy. Some make the heart too thick, while others make it too weak.
✔ Hypertrophic Cardiomyopathy (HCM) – The heart muscle becomes too thick, making blood flow difficult.
✔ Dilated Cardiomyopathy (DCM) – The heart stretches and becomes weak, affecting its pumping ability.
✔ Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) – The heart muscle gets replaced by fat and scar tissue, which can cause dangerous heart rhythms.
✔ Restrictive Cardiomyopathy (RCM) – The heart becomes stiff and cannot fill with enough blood.
💡 Some people may never have symptoms. Others may feel tired, have chest pain, or faint.
How It Runs in Families
💡 If a parent has the disease, their children have a 50% chance of inheriting it.
💡 Young people suddenly collapsing or having a heart attack may have an undiagnosed genetic heart disease.
💡 Recently, cases of young athletes and celebrities collapsing due to sudden cardiac arrest may be linked to inherited cardiomyopathy.
Dr. Roshan Daniel’s Experience with Inherited Cardiomyopathy
✅ Some patients first come with unexplained chest pain, fainting, or breathlessness.
✅ Some cases are found only after a sudden death in the family.
✅ Many cases are detected through family screening before symptoms appear.
✅ Genetic testing has helped families take preventive steps.
💡 Cost of Testing (as of February 2025):
✔ Echocardiogram (Echo) & ECG: ₹2,500 – ₹5,000
✔ Genetic Test for Cardiomyopathy Genes: ₹20,000 – ₹30,000, results in 14 working days
How is Inherited Cardiomyopathy Diagnosed?
Doctors use different tests to check the heart:
✔ Echocardiogram (Echo) – Checks if the heart is thick, weak, or stiff.
✔ Electrocardiogram (ECG) – Looks at heart rhythm.
✔ Cardiac MRI – Provides a detailed image of the heart muscle.
✔ Genetic Testing – Finds faulty genes linked to heart problems.
✔ Family Screening – If one person has the condition, relatives should also be tested.
💡 Testing can save lives. If a young family member had an unexplained heart attack or died suddenly, screening is essential.
Common Genes Linked to Inherited Cardiomyopathy
Scientists have found certain faulty genes that cause heart problems. The most common ones are:
✔ MYH7 – Can make the heart muscle thick.
✔ MYBPC3 – A common cause of inherited heart disease.
✔ TTN – Can make the heart muscle weak.
✔ LMNA – Linked to irregular heartbeats.
✔ PKP2 – Often causes arrhythmogenic cardiomyopathy.
💡 Genetic testing can identify these mutations early, allowing doctors to take preventive steps.
How is Inherited Cardiomyopathy Treated?
There is no cure, but treatment helps reduce risks and prevents sudden heart problems.
🔹 Medications – Control blood pressure and heart rhythm.
🔹 Lifestyle Changes – Avoid intense exercise, alcohol, and smoking.
🔹 Implantable Cardioverter Defibrillator (ICD) – A small device that prevents sudden cardiac arrest.
🔹 Regular Check-ups – Routine visits help monitor heart function.
🔹 Heart Transplant (For Severe Cases) – Needed if the heart becomes too weak.
💡 With the right treatment, most people can live a normal life.
FAQs on Inherited Cardiomyopathy
💡 What causes inherited cardiomyopathy?
It happens due to faulty genes that make the heart too thick, too weak, or beat irregularly.
💡 Can it run in families?
Yes. If one parent has it, there is a 50% chance of passing it to children.
💡 Can it be detected before symptoms appear?
Yes. Heart tests (ECHO, ECG) and genetic testing can detect it early.
✔ Family members should be tested if someone in the family has heart disease.
✔ Early detection can prevent sudden cardiac arrest.
💡 Can it be diagnosed before birth?
Yes. If a parent has it, prenatal genetic testing (amniocentesis or CVS) can check if the baby has inherited it.
💡 Cost of Prenatal Testing: ₹35,000 (as of February 2025)
💡 Can people with inherited cardiomyopathy live normal lives?
Yes! With proper care, most people live full, active lives.
✔ Medications help manage symptoms.
✔ Regular check-ups prevent complications.
✔ Lifestyle changes reduce heart strain.
💡 Dr. Roshan Daniel has helped many patients live long and healthy lives.
💡 What happens if it is not treated?
Without treatment, it can lead to:
✔ Heart failure – The heart becomes too weak.
✔ Irregular heartbeats – Can cause fainting or sudden cardiac arrest.
✔ Blood clots and strokes – Due to poor heart function.
💡 Early diagnosis and treatment can prevent serious problems.
💡 Can it happen in future pregnancies?
Yes. If one parent has it, each child has a 50% chance of inheriting the condition.
✔ Prenatal testing (₹35,000) can check if an unborn baby has it.
✔ IVF with Preimplantation Genetic Diagnosis (PGD) can help ensure only healthy embryos are implanted.
💡 Dr. Roshan Daniel has helped many families plan safe pregnancies through genetic counselling.
Genetic Testing and Counselling for Inherited Cardiomyopathy
At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we offer:
✔ Echocardiograms (ECHO) & ECG for early heart screening
✔ Genetic testing for inherited heart disease mutations
✔ Risk assessment and management plans for at-risk individuals
✔ Family screening and genetic counselling
✔ Online consultations for remote patients
If you or a family member has a history of heart disease, fainting spells, or sudden cardiac deaths, early testing can save lives.
Join Us in Spreading Awareness!
Inherited cardiomyopathy can be managed, but early detection is key. Spreading awareness about symptoms, family screening, and lifestyle changes can help prevent life-threatening heart problems.
📢 No disease is too rare to care. Join us in spreading awareness and ensuring patients get the right treatment at the right time.
For expert advice on genetic testing, counselling, or cardiomyopathy care, contact Dr. Roshan Daniel at KIMSHealth today! 💙