Cardiovascular Health: Identifying Risks, Preventing Disease, and Personalizing Care

Cardiovascular diseases (CVDs) remain one of the leading causes of death worldwide, despite many being preventable through simple lifestyle changes. According to the World Heart Report (1), an estimated 20.5 million people died from CVDs in 2021, accounting for approximately one-third of all global deaths. Coronary artery disease, which can lead to acute myocardial infarction, continues to be the most common and deadly form of CVD.

While CVDs are serious, they are often preventable. A balanced diet, regular exercise, control of risk factors, and preventive screenings are the cornerstones of cardiovascular health.

In this article, we will discuss the main types of cardiovascular diseases, their causes, warning signs, and prevention strategies, emphasizing the importance of regular check-ups and medical follow-up—especially among women, who often underestimate their heart disease risk.

What Are Cardiovascular Diseases?

Cardiovascular diseases refer to a group of conditions that affect the heart and blood vessels, including coronary artery disease, cerebrovascular disease, rheumatic heart disease, and congenital heart defects. These conditions impair the proper functioning of the circulatory system and can lead to serious complications such as heart attacks, strokes, and even sudden death (2–4).

According to the World Health Organization (WHO), cardiovascular diseases are responsible for approximately 17.9 million deaths each year worldwide, accounting for about 32% of all global deaths. In Brazil alone, it is estimated that one person dies every 90 seconds due to a heart-related condition (2).

Among these conditions, atherosclerotic cardiovascular disease stands out as the leading cause of mortality (5), highlighting the importance of a comprehensive and personalized cardiovascular risk assessment by healthcare professionals. Additionally, lack of awareness about symptoms and risk factors remains a major challenge. When cardiac arrest occurs outside a hospital setting, only 10.6% of patients survive, underscoring the severity of these conditions and the urgent need for early diagnosis and treatment (6).

This is a critically important topic due to its direct impact on both the quality and life expectancy of the population.

What Are the Types of Cardiovascular Diseases?

Cardiovascular diseases encompass a wide range of conditions. The most common include:

Coronary Artery Disease

Also known as ischemic heart disease, this is the most common and deadly form of cardiovascular disease. It occurs when fatty plaques (atherosclerosis) build up in the coronary arteries, which supply blood to the heart muscle. This blockage can reduce or completely obstruct blood flow, leading to angina (chest pain) or acute myocardial infarction (heart attack). In many cases, it progresses silently until a serious cardiovascular event occurs.

Myocardial Infarction (Heart Attack)

A heart attack is one of the main consequences of coronary artery disease. It happens when the blood flow to a portion of the heart muscle is completely blocked, usually by a clot that forms over a ruptured fatty plaque. The lack of oxygen causes heart cells to die, triggering symptoms such as intense chest pain, sweating, nausea, and shortness of breath.

After an acute myocardial infarction, patients require screening, preventive care, and coordinated follow-up consultations due to the increased risk of developing heart failure. Comprehensive management can improve adherence to treatment guidelines, reduce hospital readmissions, and lower the risk of heart failure (7, 8).

Stroke (Cerebrovascular Accident – CVA)

A stroke occurs when the blood supply to the brain is interrupted. It can be ischemic (due to blockage) or hemorrhagic (due to a ruptured blood vessel). Symptoms include sudden loss of strength or sensation on one side of the body, difficulty speaking, blurred vision, and confusion. Stroke is a leading cause of permanent disability and death.

Heart Failure (HF)

This condition arises when the heart is no longer able to pump blood effectively, impairing circulation throughout the body. It may result from previous heart attacks, high blood pressure, valve diseases, or cardiomyopathies. Symptoms include fatigue, leg swelling, shortness of breath, and difficulty performing daily activities.

Cardiac Arrhythmias

Arrhythmias are irregularities in the heart’s rhythm, which may be too fast (tachycardia), too slow (bradycardia), or erratic. While some arrhythmias are harmless, others can cause dizziness, fainting, palpitations, or even sudden death—especially in individuals with genetic predisposition.

Other Common Cardiovascular Conditions

Heart Valve Diseases: Affect the function of the valves that regulate blood flow between the heart’s chambers; Peripheral Artery Disease: Caused by narrowing of the arteries that supply blood to the limbs, particularly the legs, leading to pain and difficulty walking; Congenital Heart Defects: Structural or functional abnormalities of the heart present at birth; Cardiomyopathies: Diseases of the heart muscle, such as dilated, hypertrophic, or arrhythmogenic cardiomyopathy, that impair the heart’s ability to pump effectively.

Main Causes and Risk Factors for Cardiovascular Diseases

Cardiovascular diseases (CVDs) are typically the result of a combination of genetic, environmental, and behavioral factors. Many of these are modifiable, making prevention and management of most cardiovascular conditions both feasible and effective.

Key risk factors include:

• High blood pressure (hypertension): This is the most prevalent risk factor. Elevated pressure damages blood vessel walls and increases the workload on the heart, fostering the development of heart attacks, strokes, and heart failure.
• Diabetes mellitus: Excess glucose in the blood leads to inflammation and damage to the vessels, accelerating atherosclerosis and raising cardiovascular risk—even in young patients.
• High cholesterol: Elevated LDL cholesterol contributes to the buildup of fatty plaques in the arteries, while low HDL levels hinder the removal of these plaques.
• Physical inactivity: A sedentary lifestyle is linked to higher blood pressure, increased body fat, insulin resistance, and systemic inflammation.
• Smoking and excessive alcohol consumption: Cigarette smoking promotes clot formation and arterial stiffness, while excessive alcohol can lead to arrhythmias and increased blood pressure.
• Family history and genetic predisposition: Individuals with first-degree relatives who experienced early heart disease (before age 55 in men or 65 in women) are at higher risk.

What Are the Main Symptoms and Warning Signs?

Recognizing early signs of cardiovascular disease can be life-saving. Many conditions develop silently, but when symptoms do appear, it’s vital to recognize them and seek immediate medical attention.

Common symptoms include:

• Chest pain or pressure (angina), often triggered by exertion or stress
• Shortness of breath, even at rest or with light activity
• Palpitations or irregular heartbeats
• Dizziness or fainting
• Unexplained fatigue
• Swelling in the ankles, feet, or abdomen (especially in heart failure)
• Nausea, cold sweats, and a feeling of imminent fainting (in acute events such as a heart attack)

Differences in Symptoms Between Men and Women

While men often report intense chest pain radiating to the left arm, women may experience more subtle or atypical symptoms during a heart attack or other heart conditions, such as:

• Sudden and extreme fatigue
• Discomfort in the neck, jaw, or back
• Persistent nausea or indigestion
• Unexplained anxiety, similar to a panic attack
• Shortness of breath without chest pain

Paying attention to your body’s warning signs and undergoing regular checkups with a cardiologist are key to preventing and managing cardiovascular disease. Persistent or sudden symptoms—especially if risk factors are present—should prompt immediate medical evaluation.

Cardiovascular Risk in Women

Despite the common association of heart disease with men, cardiovascular diseases are also the leading cause of death among women worldwide, surpassing even breast cancer. In Brazil, data from the Ministry of Health indicate that about 30% of female deaths are due to cardiovascular causes. However, female cardiovascular risk is often underestimated, leading to delays in diagnosis and treatment, thereby worsening outcomes (9).

Moreover, women tend to present with more subtle or atypical symptoms, making serious conditions like heart attacks harder to detect. Instead of classic chest pain, they often report fatigue, nausea, or pain in the back or jaw. Female-specific factors such as pregnancy, menopause, hormonal contraceptive use, and conditions like preeclampsia also influence cardiovascular risk.

Studies show that women with a history of preeclampsia have a higher prevalence of coronary atherosclerosis compared to those without the condition (10).

According to the American Heart Association (AHA), only 44% of women recognize heart disease as their primary health threat, highlighting a significant gap in risk awareness (11). This underscores the need for targeted awareness campaigns encouraging early symptom recognition, preventive screenings, and regular medical follow-up.

How to Prevent Cardiovascular Diseases

It is important to acknowledge that cardiovascular disease is largely preventable. It is estimated that modifiable risk factors account for over 90% of the attributable risk for developing CVD, emphasizing the importance of prioritizing preventive strategies aimed at reducing these factors (12).

Among the most effective interventions are healthy lifestyle behaviors (13–15), which directly impact several risk factors, including smoking, obesity, type 2 diabetes, and cardiorespiratory fitness—now recognized as an independent predictor of cardiovascular events and all-cause mortality. The American Heart Association recommends its measurement as a “vital clinical sign.”

Effective strategies include:

• Balanced diet: Rich in fruits, vegetables, whole grains, fish, and healthy fats
• Regular physical activity: At least 150 minutes of moderate exercise per week
• Stress management: Through meditation, breathing techniques, or therapy
• Avoiding smoking and excessive alcohol: Reduces cardiovascular risk significantly
• Medical follow-up and routine testing: To monitor blood pressure, cholesterol, and blood glucose

Despite strong evidence supporting healthy habits, there has been a decline in these behaviors over recent decades. For example, regular physical activity—crucial for cardiovascular health—has been decreasing since the 1950s due to technological, social, and environmental changes (16). This reduction has contributed to a worsening cardiovascular risk profile in the population, including increased obesity rates and decreased cardiorespiratory fitness (13, 16).

Given this scenario, it is increasingly essential to promote health and encourage the adoption and maintenance of healthy lifestyles for both primary and secondary prevention of cardiovascular disease.

Which Diagnostic Tests Are Used?

Early diagnosis of cardiovascular disease is critical for implementing effective prevention and treatment strategies. A combination of clinical, laboratory, and imaging tests provides a comprehensive assessment of heart function, structural damage, and risk of acute events such as myocardial infarction.

Test selection depends on the patient’s medical history, presenting symptoms, and individual risk factors. Key diagnostic tests used in clinical practice include:

• Electrocardiogram (ECG): Assesses electrical activity of the heart and helps detect arrhythmias, ischemia, and past heart attacks.
• Echocardiogram: Uses ultrasound to evaluate heart anatomy and function, particularly valves and chambers.
• Stress test (treadmill or ergometric test): Assesses the heart’s response to exercise and helps detect ischemia.
• Cardiac MRI: Offers detailed heart images, useful for evaluating cardiomyopathies, inflammation, and scarring.
• Cardiac catheterization: An invasive test used to visualize coronary arteries, especially when significant blockage is suspected.
• Blood tests: Include cholesterol levels, troponin (a marker of myocardial injury), glucose levels, among others used for cardiovascular risk assessment.

Genetic Testing for Cardiovascular Disease Risk

Genetic testing is becoming an increasingly valuable tool for assessing cardiovascular risk, allowing early identification of predisposed individuals and development of personalized therapeutic strategies. This is especially relevant in cases of hypertrophic cardiomyopathy, dilated cardiomyopathy, and other hereditary heart diseases.

Recent molecular genetics studies have shown a strong association between genetic variants and inherited arrhythmogenic disorders, such as channelopathies (17). These disorders are caused by ion flow disturbances in cardiac ion channels, affecting action potentials in cardiomyocytes even in the absence of structural heart changes (18). Variants in genes encoding functional components of these channels have been identified in patients predisposed to fatal arrhythmias.

Moreover, genetic testing contributes to personalized pharmacological treatment. It is estimated that 40% to 60% of patients with cardiovascular disease do not respond adequately to prescribed medications, largely due to genetic differences affecting drug metabolism and sensitivity. This interindividual variability highlights the importance of pharmacogenetics in optimizing treatment choices (19).

In patients with a family history of heart disease, specific genetic tests can identify mutations associated with hereditary conditions such as:

• Dilated cardiomyopathy
• Arrhythmogenic cardiomyopathy
• Familial hypertrophic cardiomyopathy
• Long QT syndrome
• Short QT syndrome
• Brugada syndrome
• Catecholaminergic polymorphic ventricular tachycardia
• Thoracic aortic aneurysm and familial aortic dissection

These tests enable more accurate clinical follow-up, guide specific preventive measures, and support proactive actions that can significantly reduce the risk of severe cardiovascular events.

Which Tests Does SYNLAB Offer for the Investigation of Cardiovascular Diseases?

In light of recent advancements in genomic medicine, SYNLAB offers a range of tests focused on the genetic predisposition to cardiovascular diseases. Among these, we highlight the following:

• CARDIO inCode Score: Assesses the patient’s true cardiovascular risk by integrating genetic, clinical, and lifestyle data. It analyzes genetic risk, relative risk, classical global risk, genetic global risk, and estimates cardiovascular age.
• Dilated Cardiomyopathy: Identified as a leading cause of heart failure.
• Arrhythmogenic Cardiomyopathy: Characterized by the replacement of myocardial tissue with ventricular fibrosis, leading to heart failure and even sudden death.
• Familial Hypertrophic Cardiomyopathy: Considered the main cause of sudden cardiac death.
• Long QT Syndrome: Marked by an increased risk of potentially fatal cardiac arrhythmias.
• Short QT Syndrome: Characterized by paroxysmal atrial fibrillation and potentially fatal ventricular arrhythmias.
• Brugada Syndrome: Typically manifests in adulthood and is associated with a high incidence of sudden death in patients with a structurally normal heart.
• Catecholaminergic Polymorphic Ventricular Tachycardia: Presents as syncope or sudden cardiac death.
• Thoracic Aortic Aneurysm/Familial Aortic Dissection: A condition that poses a high risk for the development of thoracic aortic aneurysms and dissections.
• Pharmacogenetic Panel: Assesses and personalizes pharmacological treatment.

Get to Know SYNLAB – A Leader in Medical Diagnostic Services!

Accurate and up-to-date testing is essential for precise diagnoses and better treatment guidance. SYNLAB is here to help.

We offer diagnostic solutions with rigorous quality control to the companies, patients, and healthcare providers we serve. Present in Brazil for over 10 years, we operate in 36 countries across three continents and are leaders in diagnostic services in Europe.

Contact the SYNLAB team to learn about our available tests. 

References

1. World Heart Report 2023. Disponível em: https://world-heart-federation.org/wp-content/uploads/World-Heart-Report-2023.pdf

2. World Health Organization. Cardiovascular diseases. World Health Organization. Available at: https://www.who.int/health-topics/cardiovascular-diseases/# tab5tab_1.

3. Benjamin EJ, Muntner P, Alonso A, et al. Heart disease and stroke statistics— 2019 update: a report from the American Heart Association. Circulation 2019; 139(10).

4. European Heart Network. European cardiovascular disease statistics. 2017. Available at: https://ehnheart.org/images/CVD-statistics-report-August-2017.pdf. Accessed December 15, 2021.

5. Virani SS, Alonso A, Benjamin EJ, et al. Heart disease and stroke statistics—2020 update: a report from the American Heart Association. Circulation. 2020;141(9):e139-e596.

6. Virani SS, Alonso A, Aparicio HJ, et al. Heart disease and stroke statistics—2021 update: a report from the American Heart Association. Circulation. 2021;143(8):e254-e743.

7. Piepoli MF, Corra U, Dendale P, et al. Challenges in secondary prevention after acute myocardial infarction: a call for action. Eur Heart J Acute Cardiovasc Care. 2017;6(4):299- 310.

8. Jenca D, Melenovsky V, Stehlik J, et al. Heart failure after myocardial infarction: incidence and predictors. ESC Heart Fail. 2021;8(1):222-237.

9. Mansur AP, Favarato D, Strunz CMC, Avakian SD, Pereira-Barretto AC, Bocchi EA, César LAM. Sex Differences in Cardiovascular Disease Mortality in Brazil between 1996 and 2019. Int J Environ Res Public Health. 2022 Oct 7;19(19):12827.

10. Hauge MG, Damm P, KF, Ersbøll AS, Johansen M, Sigvardsen PE, Møller MB, et al. Early Coronary Atherosclerosis in Women With Previous Preeclampsia. J Am Coll Cardiol. 2022 Jun 14;79(23):2310-2321.

11. Metlock FE, Kwapong YA, Evans C, Ouyang P, Vaidya D, et al. Design and rationale of the social determinants of the risk of hypertension in women of reproductive age (SAFE HEART) study: An American Heart Association research goes red initiative. Am Heart J. 2024 Sep:275:151-162.

12. Joseph P, Leong D, McKee M, et al. Reducing the global burden of cardiovascular disease, part 1: the epidemiology and risk factors. Circ Res 2017;121(6):677-694.

13. Franklin BA, Brubaker P, Harber MP, Lavie CJ, Myers J, Kaminsky LA. The Journal of Cardiopulmonary Rehabilitation and Prevention at 40 years and its role in promoting lifestyle medicine for prevention of cardiovascular diseases: PART 1. J Cardiopulm Rehabil Prev 2020;40(3):131-137.

14. Franklin BA, Brubaker P, Harber MP, Lavie CJ, Myers J, Kaminsky LA. The Journal of Cardiopulmonary Rehabilitation and Prevention at 40 yr and its role in promoting preventive cardiology: part 2. J Cardiopulm Rehabil Prev 2020;40(4):209-214.

15. Franklin BA, Myers J, Kokkinos P. Importance of lifestyle modification on cardiovascular risk reduction: counseling strategies to maximize patient outcomes. J Cardiopulm Rehabil Prev 2020;40(3):138-143.

16. Garber CE, Blissmer B, Deschenes MR, et al. American College of Sports Medicine position stand. Quantity and quality of exercise for developing and maintaining cardiorespiratory, musculoskeletal, and neuromotor fitness in apparently healthy adults: guidance for prescribing exercise. Med Sci Sports Exerc 2011;43(7):1334-1359.

17. Hsiao P, Tien HC, Lo C, Juang JJ, Wang Y, Sung RJ. Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies. Appl Clin Genet. 2013 Jan 18;6:1–13.

18. Wilde AAM, Bezzina CR.Genetics of cardiac arrhythmias. Heart. 2005 Oct;91(10):1352–1358. doi: 10.1136/hrt.2004.046334

19. Johnson JA, Cavallari LH. Pharmacogenetics and cardiovascular disease–implications for personalized medicine. Pharmacol Rev. 2013 May 17;65(3):987-1009.