Inherited heart conditions may run in the family. You have a higher chance of developing a cardiac condition since you share the same DNA as your parents or other close relatives.
A person’s lifestyle choices and family history can contribute to the development of certain cardiac problems, such as coronary artery disease and high blood pressure. Maintaining a good diet and doing regular exercise might help you prevent high blood pressure, even if one of your parents has it.
Some forms of cardiac disease are associated with one or a small number of genes. These genes are more likely to cause heart disease, which increases the likelihood that particular cardiac diseases will be inherited by family members.
You can take preventative measures and decide when to get tested for genetic heart diseases by knowing your family’s medical history. Ask your family members if they have heart disease to begin the process, and then let your cardiologist or primary care physician know.
These six genetically linked forms of heart disease explain how to get tested for them if you have a family history of the condition.
1. Cardiac disorders
Your body receives blood pumping from your heart muscle. Your heart muscle is injured or malfunctioning if you have cardiomyopathy. It could be thin and dilated to the point of not being able to pump efficiently, or it might be thicker than usual. Blood clots, abnormal heartbeats, and ultimately heart failure can all be symptoms of cardiomyopathy.
Typical signs of cardiomyopathy consist of:
- breathing difficulties during activity
- pounding in the heart
- feeling lightheaded or dizzy
- losing consciousness
- edoema in your abdomen, legs, ankles, and feet
Your physician will conduct a physical examination, inquire about any family history of heart disease, and do an echocardiogram. These tests may also be used to diagnose cardiomyopathy, depending on the circumstances:
- an ECG, or electrocardiogram
- practise exams
- sanguine tests
- DNA examinations
- magnetic resonance imaging (MRI) of the heart
- cardiac biopsy
Cardiomyopathy comes in various forms. Some are brought on by illnesses including infections, heart attacks, or heart disease. Some types, such as the following, are inherited:
2. Bradycardias
A heartbeat that deviates from the standard lub-dub pattern is called an arrhythmia. This is the outcome of an electrical signal issue in the heart. The sort of arrhythmia you have will determine whether your heart beats abnormally fast, slowly, or in another way.
Among the signs of an arrhythmia are:
- heart palpitations
- fainting or vertigo
- chest ache
- inability to breathe
- weariness
- fragility
An ECG, a physical examination, and a medical history are usually utilised to diagnose arrhythmias. There might also be further testing required, like:
- sanguine tests
- cardiac rhythm recorder
- study of electrophysiology
- DNA examinations
- cardiac MRI
Certain arrhythmias are inherited in certain cases.
3. Heart amyloidosis
The accumulation of an aberrant protein termed amyloid in the heart results in cardiac amyloidosis. The protein causes the heart to become so thick and rigid that blood cannot flow through it completely.
Hereditary transthyretin-related amyloidosis (hATTR), the only hereditary form of amyloidosis, is brought on by the liver’s production of a particular kind of amyloid protein called transthyretin.
- heart amyloidosis symptoms include:
- breathing difficulties during activity
- an increase in belly, legs, and ankles
- weariness
- fragility
Some amyloidosis patients have deposits in other areas of their bodies, like the nerves, which can cause numbness in the hands and feet or cause a family history of carpal tunnel syndrome.
Your doctor may do the following tests in addition to a physical examination and a family history in order to identify cardiac amyloidosis:
- an ECG
- sanguine tests
- urine examinations
- genetic analysis
- pyrophosphate scan, a nuclear medicine diagnostic modality
- cardiac MRI
- cardiac biopsy
4. Syndrome of Marfan
The connective tissues that support your bones and organs are impacted by this hereditary disorder. Your heart’s, blood vessels’, bones’, and joints’ connective tissues overstretch and weaken.
The aorta, the major blood conduit that supplies blood to the rest of your body from the heart, can enlarge if you have Marfan syndrome. It may potentially harm the heart’s valves.
Individuals who have Marfan syndrome frequently have tall, thin builds with longer fingers, toes, arms, and legs than average. In addition, they can have issues with their lens of the eye and a bent spine.
Marfan syndrome symptoms include:
- missing heartbeats
- inability to breathe
- migraine
- stomach ache
Your doctor will evaluate you and inquire about your family’s medical history in order to identify Marfan syndrome. These tests aid in the diagnosis of Marfan syndrome as well:
- chest computed tomography (CT) scan
- the chest MRI
- cardiac echo
- DNA examinations
5. Hypercholesterolemia in families
About 1 in 250 persons have familial hypercholesterolemia, a hereditary form of extremely high cholesterol.Reliable Source. A genetic abnormality impedes your liver’s ability to eliminate low-density lipoprotein (LDL) cholesterol from your body. This disease is characterised by extremely high LDL cholesterol, more than 190 mg/dL.
This elevated level of LDL can raise your risk of heart attack or coronary artery disease. Maybe you’re symptomless. Familial hypercholesterolemia is frequently discovered with a standard blood test.
The following symptoms may appear if your body accumulates too much cholesterol:
- lumps on your fingers, elbows, or knees
- edoema or discomfort in the Achilles tendon
- either a white half-moon shape outside of your cornea or a yellow ring around your eyes
Tests for high cholesterol in families consist of:
- blood tests to measure triglyceride and cholesterol levels
- DNA examinations
Therapies
Treatments or interventions for various illnesses vary and include:
modifications to your diet, prescription drugs, and implanted cardioverter defibrillators (ICDs)
transplanting of the heart (rarely)
