Genomics is rapidly transforming the way we understand, diagnose, and manage cardiac conditions. With advanced testing, expert interpretation, and structured family counselling, we help cardiologists provide precise, personalised care to their patients. In the past year alone, we have supported cardiologists across India in more than 100 patient cases, ensuring accurate diagnoses and better clinical outcomes.

Genomics in Cardiology: Real Cases That Show Why It Matters

Genetic testing is now an essential part of modern cardiology. From pinpointing inherited cardiomyopathies to preventing sudden cardiac deaths and guiding reproductive decisions, genomics has transformed patient care. Below are real case examples from our clinical practice that highlight how the right test, right interpretation, and right counselling can be life-changing.

01. Choosing the Right Genetic Test Is Important

A 44-year-old man with hypertrophic cardiomyopathy previously tested negative on a routine cardiomyopathy panel. On reviewing the report, we realised the panel was outdated and lacked several essential genes.

We repeated the test using an updated NGS panel and identified a pathogenic FLNC variant, confirming the diagnosis.

This is not an isolated example. In several cases, missed diagnoses were later uncovered only when we added:

• Mitochondrial genome sequencing

• CNV analysis

• Chromosomal microarray (CMA)

These findings reinforce that not all tests—and not all panels—are the same. Choosing the correct test upfront prevents missed or delayed diagnoses.

02. All Genetic Testing Labs Do Not Provide the Same Quality

A 54-year-old male with long QT syndrome and a strong family history had a “negative” NGS report from elsewhere.

We re-tested using clinical-grade depth, stringent QC, and premium interpretation databases. A previously missed SCN5A pathogenic variant was identified.

This case highlights:

• Variable sequencing depth between labs

• Cost-cutting measures affecting accuracy

• Differences in bioinformatics pipelines

Poor-quality testing can lead to both false negatives and false positives—impacting treatment and family screening.

04. Right Interpretation Prevents Wrong Decisions

A 34-year-old man with dilated cardiomyopathy had a VUS in the TTN gene. His pregnant wife underwent fetal testing elsewhere and the same variant was identified—termination was advised.

After referral, we performed manual variant reclassification and concluded the TTN variant was likely benign. The pregnancy was continued and the child is healthy.

Misinterpretation is common with:

• VUS

• Mitochondrial variants

• Heterozygous variants in recessive genes

Expert interpretation prevents unnecessary anxiety, wrong reproductive decisions, and inappropriate surveillance.

05. Lack of Genetic Counselling Can Break Families

A 4-year-old boy diagnosed with Duchenne Muscular Dystrophy (DMD) caused immense emotional distress in the family. The mother, identified as a carrier, faced blame and guilt.

Through structured genetic counselling, we explained inheritance patterns, recurrence risks, and long-term management. The family continues regular follow-up with improved understanding and acceptance.

In cardiac genetics, counselling plays a critical role in:

• Improving treatment adherence

• Guiding reproductive planning

• Reducing guilt and stigma

• Helping families cope with chronic conditions

06. Family Screening and Surveillance Saves Lives

A 28-year-old woman with a family history of sudden cardiac death was referred for evaluation. She had subtle marfanoid features. Genetic testing identified a high-risk Marfan syndrome variant.

Cardiac screening confirmed aortic root dilatation—she is now under close cardiac monitoring, reducing her risk of catastrophic events.

Many similar cases of inherited:

• Arrhythmias

• Cardiomyopathies

• Thrombophilias

…have dramatically changed outcomes in families once affected by repeated sudden cardiac deaths.

07. Identifying Syndromic Children Early

An 8-month-old boy with hypotonia, hypertrophic cardiomyopathy, and poor growth was suspected to have a metabolic or syndromic condition. Enzyme studies and genetic testing confirmed Pompe disease.

He was started on Enzyme Replacement Therapy under the NRDP scheme, with significant improvement.

Red-flag signs that demand early genomic evaluation include:

• Multi-organ involvement

• Developmental delay

• Dysmorphism

• Growth failure

Early diagnosis leads to early treatment—and better outcomes.

Conclusion

These real-world cases demonstrate that genomics is not optional in modern cardiology. It is a powerful tool that:

• Improves diagnostic accuracy

• Prevents life-threatening complications

• Protects families through early screening

• Supports informed reproductive decisions

• Changes long-term outcomes

As genomics becomes central to cardiac care, clinicians must ensure high-quality testing, expert interpretation, and proper counselling to deliver the best outcomes for patients and families.