Why is genetic risk for cardiovascular disease important for your Healthspan?
Cardiovascular Health — Longevity
Many serious cardiovascular conditions—such as hypertrophic cardiomyopathy, dilated cardiomyopathy, long QT syndrome, arrhythmogenic cardiomyopathy, familial hypercholesterolemia, thoracic aortic aneurysm, and inherited thrombophilias—can remain silent until a life-threatening event occurs. The cardiovascular portion of this panel analyzes genes involved in heart muscle structure, electrical conduction, vascular integrity, lipid handling, and blood clotting (for example, MYBPC3, MYH7, LMNA, KCNQ1, KCNH2, LDLR, PCSK9, FBN1, ACTA2, F5, F2, PROC, PROS1, SERPINC1, and others). Identifying a pathogenic or likely pathogenic variant allows earlier diagnosis, risk stratification, and personalized management before symptoms or complications develop.
A positive result may explain a personal or family history of early heart attack, sudden cardiac death, unexplained fainting, severe arrhythmia, aneurysm, or very high cholesterol. It can guide decisions about medications (such as statins or beta-blockers), lifestyle modifications, exercise intensity, imaging or rhythm monitoring frequency, and, in some cases, consideration of procedures or devices such as implantable cardioverter defibrillators (ICDs). For family members, results can clarify who needs careful cardiac evaluation and who may be reassured. By catching these conditions early, this panel supports longer, healthier years with reduced risk of sudden or premature cardiovascular events.
What is genetic risk for cardiovascular disease?
This genetic test assesses germline variants across a broad set of genes linked to inherited heart muscle disease (cardiomyopathies), electrical disorders (channelopathies), vascular connective tissue disorders, lipid disorders, and coagulation abnormalities. Examples include genes encoding sarcomere proteins (MYH7, MYBPC3, TNNT2, TNNI3), ion channels and associated proteins (KCNQ1, KCNH2, SCN5A, RYR2), structural proteins (LMNA, DSP, PKP2), aortic and connective tissue genes (FBN1, TGFBR1, TGFBR2, SMAD3), and lipid-regulating genes (LDLR, APOB, PCSK9), among others. Pathogenic variants in these genes can change how the heart contracts, conducts electrical signals, withstands pressure, or how the body handles cholesterol and clotting.
As with the rest of the panel, only pathogenic and likely pathogenic variants are reported; benign and likely benign variants, as well as variants of uncertain significance, are not included in the clinical report. The focus is on conditions for which reliable interventions—such as medications, surveillance, lifestyle adjustments, or procedures—are available. All findings are inherited (germline), not tumour-specific. Interpretation is most valuable when combined with ECGs, echocardiograms, lipid profiles, imaging, and clinical history, enabling a holistic risk assessment and tailored management plan.
How do we take action?
Genetic Counselling — Exercise Improvement — Diet Enhancement
When a clinically significant cardiovascular variant is found, follow-up with a genetic counsellor is an important next step. Management may include regular cardiac imaging, ECG or Holter monitoring, stress testing, and targeted therapies to reduce risk—such as lipid-lowering medications in familial hypercholesterolemia, beta-blockers or calcium channel blockers in certain arrhythmias, blood thinners for clotting disorders, or surgery/intervention for aortic disease. Lifestyle remains a powerful co-therapy: heart-healthy nutrition (emphasizing vegetables, fibre, unsaturated fats, and minimal trans fats and refined sugars), regular aerobic activity, appropriate resistance training, adequate sleep, and smoking avoidance all support cardiovascular resilience. For some conditions, exercise intensity may need to be individualized, so professional guidance is important before making large changes. Family screening allows at-risk relatives to be identified and protected earlier in life, while those who test negative can avoid unnecessary surveillance.
Additional resources
- Ackerman, M. J., et al. (2011). HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies. Heart Rhythm, 8(8), 1308–1339.
- Sturm, A. C., et al. (2018). Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel. Journal of the American College of Cardiology, 72(6), 662–680.
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