A guide for families dealing with genetic cardiovascular disorders
HCM generally affects the left ventricle (the main pumping chamber), particularly the septum (area of muscle in the middle of the heart, which separates the right and left sides). The average thickness of the left ventricle wall in an adult is 12mm, but in HCM, the thickness is 15mm or more. In some cases, HCM can also affect the right ventricle.
HCM is usually caused by a genetic mutation and is typically inherited from one generation to the next. The child of an affected parent has a 50% chance of inheriting the mutation. However, the symptoms may not appear until much later in life. It is therefore important that the children, siblings, and parents of a person affected with HCM are also screened.
While some people with HCM may show very few or no symptoms, it may manifest in others. The typical symptoms include:
Feeling that the heart is beating too fast or too hard – this is caused by arrhythmias (when the electrical messages controlling the heart’s rhythm are disrupted).
Caused by reduced oxygen levels reaching the heart
Caused by reduced oxygen levels or blood flow to the brain, most commonly due to arrhythmias
Fluid builds up around the lungs, making it harder to breathe.
As the heart’s function is reduced, less energy is delivered to the tissues, causing excessive tiredness.
Often HCM leads to arrhythmias (abnormal heart rhythms) because the disrupted muscle cells may affect the normal electrical signalling that controls the heartbeat. This disruption causes a change in the heart’s rhythm, and it beats too fast, too slow, or erratically.
This is a disruption in the electrical messages that normally cause the heart muscle to contract. This leads to fast, uncoordinated beats.
Caused by abnormal electrical activity in the ventricle walls and leads to the heart contracting abnormally quickly
These are abnormal impulses coming from the ventricle walls. This can lead to the ventricles contracting in an uncoordinated way, so blood is not pumped effectively.
During the first meeting, our expert cardiac care professionals will evaluate your current health condition, take a detailed history including a complete family history, review all your prior investigations (ECG ± echo if not already done), and discuss the way forward with you. If required, your doctor may suggest a genetic test to help understand the cause of your disease.
Medical history – to look at any previous symptoms and whether other family members might have this condition (as it can be genetic).
Physical exam – to look for any signs of the condition and any other health problems.
The results of the medical history and physical exam provide important information about a diagnosis and determine which of the following tests are needed.
ECG (electrocardiogram) – this looks at the electrical activity of the heart and whether arrhythmias (abnormal heart rhythms) are happening.
Echo (echocardiogram) – this is a type of ultrasound scan, which uses sound waves to create echoes when they hit different parts of the body. This looks at the structure of the heart and how it is working.
Exercise ECG tests – these are tests done during exercise, such as on an exercise bike or a treadmill. Tests look at how the heart works during exertion (under increased pressure to work), how your blood pressure responds to exercise, and measures your oxygen use during exercise.
Holter monitoring – this is when an ECG is recorded over some time (such as a few days) while carrying on with normal activities. A ‘holter’ is an ECG device that is worn on the waist or in a pocket, which makes it possible to move and walk around.
MRI (magnetic resonance imaging) scan
This scan produces high-quality images and is used to look at the structure and function of the heart and any presence of fibrous tissue within the heart muscle walls.
Genetic test is like a regular blood test. Blood with be drawn from your veins. This will be used to identify typical genetic anomalies like changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. This test is optional, and results will not be available immediately.
The test results may define a further treatment plan. While there is no permanent cure for genetic conditions, there are medicines and surgical options that help reduce the symptoms. It is also a good idea to avail genetic counselling if you are planning to start a family.
Our expert team is here to offer help and support. We offer diagnosis, treatment, and lifestyle changes to help manage your problem.
Kauvery Hospital is globally known for its multidisciplinary services at all its Centers of Excellence, and for its comprehensive, Avant-Grade technology, especially in diagnostics and remedial care in heart diseases, transplantation, vascular and neurosciences medicine. Located in the heart of Trichy (Tennur, Royal Road and Alexandria Road (Cantonment), Chennai, Hosur, Salem, Tirunelveli and Bengaluru, the hospital also renders adult and pediatric trauma care.
Chennai – 044 4000 6000 • Trichy – Cantonment – 0431 4077777 • Trichy – Heartcity – 0431 4003500 • Trichy – Tennur – 0431 4022555 • Hosur – 04344 272727 • Salem – 0427 2677777 • Tirunelveli – 0462 4006000 • Bengaluru – 080 6801 6801
