By Prof Philippos Patsalis
Heart disease is a major health issue worldwide. February is established as the month of heart health awareness in the US, UK, and other countries to raise public awareness about cardiovascular health.
For the past 30 years, cardiovascular disease has been the number one cause of death worldwide and the leading cause of death for people aged 15 and above.
Cardiovascular disease is responsible for more than one-third of annual global deaths. In 2019, approximately 18 million people lost their lives due to cardiovascular complications.
A heart attack or a stroke causes a significant 80% of all cardiovascular deaths, and 36% of those heart attack and stroke deaths are people under 70.
Cardiovascular diseases are one of the most common yet one of the most complicated health challenges worldwide.
Cardiovascular disease can refer to a variety of conditions affecting the heart and its blood vessels.
Some of the most common ones are heart failure, coronary heart disease (commonly known as a heart attack), hypertension and cerebrovascular disease (stroke).
Until now, the risk of developing cardiovascular disease was calculated using lifestyle factors such as high body mass index (BMI), smoking, physical inactivity, and high blood cholesterol.
In recent years, emphasis has also shifted towards hereditary genetic factors.
Research shows that people can inherit genetic mutations, which could potentially result in a compromised cardiovascular system.
Genetic testing is the process of analysing cells or tissue to look for changes (mutations) in genes, chromosomes, or proteins that may be a sign of a disease or condition. It plays a vital role in early detection.
People diagnosed at an early stage have the best prognosis by undergoing therapies or adapting to significant lifestyle changes.
At least one-third of worldwide heart attacks and strokes are preventable.
Cardiovascular genetic tests are an efficient and accurate way to get an insight into your cardiovascular health.
People with an inherited genetic mutation have a predisposition to developing a life-threatening condition in the future.
The genetic mutation is present since birth but can manifest at any time.
Genetic screening
Genetic screening can inform individuals of their risk to develop cardiovascular disease and help avoid future complications that might be irreversible.
Genetic screening is recommended by several associations such as the European Society of Cardiology and American Heart Association.
Early detection and clinical management is key to preventing sudden cardiovascular episodes.
Clinical testing can identify high-risk patients through chemical analysis of biological markers (biomarkers).
A biomarker is a characteristic that can be measured and evaluated as an indicator of a biological state or condition.
Common biomarkers used to identify high-risk individuals are LDL, HDL, total cholesterol, triglycerides, apolipoproteins, and ferritin levels.
Each of these biomarkers serves as an indicator. Depending on their levels, advice or medication is given to limit or eliminate the risk of developing or worsening cardiovascular disease.
Scientific research has led to discovering a wide range of biomarkers linked to cardiovascular health risks and cardiovascular disease prevention.
Novel cardiovascular biomarkers include enzymes, hormones, and proteins released into the bloodstream in the event of a stressed or damaged heart.
An example of a novel cardiovascular biomarker is troponin, a group of proteins that regulate the heart and skeletal muscles’ contractions, with high sensitivity and longer presence in the blood than any other biomarker, making it the best way to diagnosing a heart attack.
Haemoglobin is one of the most widely measured biomarkers. It reflects up to 3 months of glucose levels in the blood of patients who have diabetes.
High-sensitivity C-reactive protein is another novel biomarker. It indicates any severe ongoing inflammation, and B-type natriuretic peptide is a biomarker that indicates a myocardial wall stress.
Advancements in research and analysis on novel biomarkers and genetic testing to identify hereditary genetic mutations can be key to early detection, better prognosis, and reliable clinical management of cardiovascular diseases.
The writer is Founder, Chief Executive Director & Chief Medical Officer of NIPD Genetics
