The landscape of cardiovascular care is rapidly evolving, driven in part by a deeper understanding of genetics. Cardiac conditions that were once considered idiopathic are now being reclassified based on their genetic basis, allowing for more personalized diagnosis, management, and prognosis. This blog offers an in-depth look at key cardiac-related genes, the conditions they influence, and how clinicians can leverage genetic insights in daily practice.
Genetic Architecture of Cardiovascular Disease
Cardiovascular diseases (CVDs) represent a diverse spectrum ranging from congenital defects and cardiomyopathies to arrhythmias and lipid disorders. While environmental and lifestyle factors are undeniable contributors, the role of genetics—especially in familial and early-onset cases—is becoming increasingly prominent.
The genetic underpinnings of CVDs can broadly be categorized into:
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Cardiomyopathies (e.g., HCM, DCM, ARVC, RCM)
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Arrhythmias (e.g., LQTS, Brugada Syndrome, CPVT)
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Congenital heart defects
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Aortopathies and connective tissue disorders
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Lipid metabolism disorders
Understanding the genetic mutations and mechanisms behind these can enable pre-symptomatic identification, family screening, and tailored interventions.
Key Cardiac Conditions and Their Genetic Associations
Also Read: Genes affect cardiac risk — learn about each gene.
Further Reading: For a comprehensive, clinician-focused consensus on genetic testing of cardiomyopathies, refer to the Position Statement of the Cardiological Society of India — a detailed guide on genotyping, interpretation, and clinical application in inherited cardiomyopathies.
Clinical Applications of Cardiac Genetic Testing
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Early Detection and Diagnosis
Genetic testing can identify individuals at risk even before the onset of symptoms, particularly in families with a history of sudden cardiac death or early-onset heart disease. -
Risk Stratification and Treatment Planning
For example, in hypertrophic cardiomyopathy, certain MYH7 or TNNT2 variants are associated with higher risk of sudden cardiac death and may warrant consideration for an ICD. -
Pharmacogenomics and Drug Safety
Variants in genes like SCN5A can influence sensitivity to anti-arrhythmic drugs, guiding safer prescribing practices. -
Family Screening
Once a pathogenic variant is identified, cascade screening enables targeted testing of relatives, reducing unnecessary anxiety and interventions in those who are not carriers. -
Prenatal Counseling
Genetic information is valuable in assessing congenital defects and guiding reproductive choices.
Mapmygenome’s Clinical Genomic Solutions
At Mapmygenome, we offer a suite of clinically validated genomic tests to support cardiac risk assessment and personalized care:
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Cardiomap: A comprehensive panel covering 100+ genes related to inherited cardiomyopathies, arrhythmias, lipid disorders, and congenital heart defects.
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Medicamap™: A pharmacogenomics panel that provides drug response insights, particularly useful for anticoagulants, statins, and anti-arrhythmics.
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Genomepatri™: A DNA-based health and wellness assessment that includes cardiac predisposition insights for proactive lifestyle and clinical management.
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Whole Exome Sequencing (WES): Ideal for complex or rare presentations, enabling full coding region analysis across 20,000+ genes.
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Genetic Counseling Services: Our team of trained genetic counselors supports both patients and physicians in interpreting reports and recommending follow-up.
All tests are processed in our CAP & NABL-accredited lab, ensuring the highest quality and reliability.
Clinical Perspective & Next Steps
As the field of cardiovascular genetics evolves, clinicians are uniquely positioned to integrate genomic insights into patient care. By embracing genetic testing, physicians can move from reactive to preventive and personalized approaches—saving lives, informing families, and optimizing outcomes.
For more information or to refer a patient, visit www.mapmygenome.in or contact our clinical support team.
