Inherited heart conditions
Uncle Edward got back from an evening walk, opened a beer, and fell down dead. Inherited heart conditions all too often present just like this. They may go undetected and lead to disaster when untreated. They can lead to heart attacks, cardiac arrest, and a glut of other effects. But what are they and why do they happen?
Life as we know it is composed of small packets of fats, protein, and water, called cells. Your body alone is constructed from trillions of cells, each with a unique function. The function of a cell is determined by a set of instructions encoded in DNA called genes. There are tens of thousands of genes in every cell. They determine its shape, function and even when it grows or dies. In the cell, they form a matched set with two copies of every gene. One half of the set is inherited from your mother and the other half from your father. Every person’s genes are different. A slight change in the instructions might make someone a little taller, hate the taste of cilantro, or predispose them to a heart condition. Heart conditions that are the result of genes someone inherited from their parents, are what we mean when we say inherited heart conditions.
What causes them?
Genes hold the instructions for how cells build different proteins. A faulty instruction in a heart cell could cause it to beat irregularly or grow too much depending on what gets changed. Genes come in sets of two. This means that even if there is one faulty gene, there is often another to help out. It also means that there is a 50:50 chance of a faulty gene passing on to the next generation. It is entirely possible to never experience any signs of a heart condition, but still pass faulty genes on to your children.
What are the types?
Defects in the growth and function in the muscular components of the heart
- Hypertrophic Cardiomyopathy
- Dilated Cardiomyopathy
- Arrhythmogenic Right Ventricular Cardiomyopathy
Disruptions in the electrical system that coordinates the motion of the heart.
- Long QT Syndrome
- Brugada Syndrome
- Catecholaminergic Polymorphic Ventricular Tachycardia
Cholesterol builds up and blocks the blood vessels that feed the heart
- Familial Hypercholesterolaemia
What are the symptoms?
Unfortunately, inherited heart conditions may go entirely unnoticed until it is too late and sudden death strikes. When these conditions do cause symptoms, they can be vague. More common symptoms include:
- Feeling lightheaded or dizzy
- Palpitations (a heavy feeling of the heart beating)
- Fainting or blacking out
How are they diagnosed?
If there is a family history of heart illnesses especially at a young age, suspicion for an inherited heart condition may be aroused. Various methods are employed to diagnose these conditions.
- Genetic Testing
What if a family member is diagnosed?
Inherited heart conditions run in families. If you or a loved one has been diagnosed with an inherited cardiac condition, then a doctor may suggest that other family members get tested as well. This process called cascade testing, can help people discover if they have inherited the same heart condition related gene.
Why get tested?
Heart conditions can become more difficult and more dangerous to treat as time goes on.
- Getting tested early means that risks to your heart health can be addressed early on.
- Lifestyle and diet changes can be started to lower the risk of coronary artery disease and heart attack.
- Treatment and monitoring of conditions can be started before dangerous symptoms occur.
- Family members can be told and learn if they are at risk as well.
Who may I speak with?
- The British Heart Foundation runs a Genetic Information Service helpline at 0300 456 8383 during normal work hours.
- There are many specialist clinics that deal with inherited heart conditions and your GP can help guide you to the right one.
- You can get your own genetic testing kit here that will be reviewed by a qualified doctor.
Researchers are finding new treatments and tests for inherited heart conditions
Genetic research is thriving. New methods are being developed that are faster, less invasive, and even more reliable. Genes involved in disease processes are being scrutinised and worked into tests. The BHF is one of the largest contributors to cardiovascular research in the UK. If you would like to read more about their work, please click here.
If you would like to get your own genetic test with doctor reviewed genetic insight please click here.