A/Prof Saurabh Kumar

Cardiologist & Electrophysiologist
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Genetic Screening & Inherited Cardiac Disorders

Early detection and prevention for families at risk of inherited heart conditions

Some heart conditions are passed down through families, often without symptoms in early life. These inherited cardiac disorders can significantly increase the risk of arrhythmias, cardiomyopathy, heart failure, and even sudden cardiac death—particularly in young individuals. Through comprehensive genetic screening and cardiac evaluation, at-risk individuals can be identified, monitored, and protected through proactive medical care.

A/Prof Saurabh Kumar, a Sydney-based Cardiologist and Interventional Electrophysiologist, specialises in the diagnosis, risk assessment, and long-term management of inherited cardiac conditions. He offers evidence-based genetic screening services supported by advanced diagnostics and coordinated care with multidisciplinary teams. His approach is designed to provide clarity, reassurance, and personalised strategies for both patients and their families.

When Is Genetic Screening Appropriate?

Genetic screening may be recommended when there is:

  • A personal or family history of sudden cardiac death under the age of 50
  • Unexplained fainting (syncope) or seizures with normal neurological work-up
  • A known diagnosis of an inherited cardiac disorder in a close relative
  • Abnormal ECG findings (e.g., prolonged QT interval, Brugada pattern)
  • Structural heart disease or cardiomyopathy without an identifiable cause
  • An unexplained cardiac arrest in a previously healthy individual

In Australia, more than 20,000 people die each year from sudden cardiac arrest, and many of these deaths occur in young or middle-aged adults with no prior symptoms. Identifying inherited cardiac disorders early offers a chance to intervene—often preventing future events through medication, device therapy, or lifestyle modification.

Services Offered

The first step in any genetic evaluation is understanding the family’s medical background. A/Prof Kumar takes a detailed history and constructs a multi-generational family pedigree to look for patterns of inherited disease. This visual map helps identify who in the family may need further testing, monitoring, or reassurance.

Genetic testing is a powerful tool, but it must be approached with care. A/Prof Kumar collaborates closely with genetic counsellors to ensure patients are fully informed about the purpose, benefits, and limitations of genetic testing. He coordinates sample collection, communicates with accredited laboratories, and carefully interprets results in the context of each individual’s clinical picture.

Children, siblings, and parents of individuals with inherited cardiac conditions often carry the same genetic mutation. Screening in first-degree relatives typically includes:

  • ECG and Holter monitoring
  • Echocardiography or cardiac MRI
  • Genetic testing (if a pathogenic variant is known in the family)

This allows for early detection and appropriate follow-up in asymptomatic individuals.

Once a genetic diagnosis is confirmed, cascade testing allows other family members to be screened in a structured and cost-effective way. This targeted approach avoids unnecessary testing and ensures that relatives who are at risk are given timely, accurate information and care.

Some people may carry a disease-causing genetic mutation but have no current symptoms or signs on testing. These individuals require long-term monitoring and expert advice about:

  • Lifestyle and exercise recommendations
  • Medication where appropriate (e.g., beta-blockers)
  • Future risk of developing disease features
  • Planning for major life events, such as pregnancy or sport participation
Complex cases or those requiring multi-specialist input are referred to and co-managed with dedicated inherited heart disease teams. A/Prof Kumar maintains strong working relationships with geneticists, imaging specialists, and heart failure services across Sydney to ensure patients receive comprehensive, connected care.

Conditions Screened and Managed

LQTS is a genetic disorder affecting the heart’s electrical recovery after each beat. It can cause fainting, seizures, or sudden death—particularly during exercise or stress. With early diagnosis and the right management, including beta-blockers and sometimes ICDs, most people with LQTS can live full, active lives.
Brugada is associated with specific ECG abnormalities and a risk of dangerous ventricular arrhythmias. Symptoms may appear during fever or sleep, and the condition can be silent until a serious event occurs. ECG screening, genetic testing, and sometimes electrophysiology studies are used to assess risk.
CPVT causes stress- or exercise-induced arrhythmias in otherwise structurally normal hearts. It typically presents in children or adolescents. Genetic confirmation guides the use of beta-blockers, lifestyle modification, and in some cases, ICD implantation.
ARVC involves progressive scarring of the right ventricular muscle, leading to arrhythmias and a risk of sudden death. It often emerges in late adolescence or early adulthood. Family screening with cardiac MRI, ECG, and genetic testing is essential for early diagnosis and intervention.
HCM is the most common inherited heart disease, marked by thickening of the heart muscle and a risk of arrhythmia. It is a leading cause of sudden cardiac death in young athletes. Regular screening from adolescence is recommended for at-risk individuals, and lifestyle advice is critical in management.
DCM can be caused by gene mutations that affect the heart’s ability to contract. Symptoms may not appear until adulthood. Identifying affected individuals before symptom onset allows for close monitoring, early therapy, and ICD planning if needed.
When a young person dies suddenly with no clear cause identified on post-mortem examination, an inherited arrhythmia is often suspected. A/Prof Kumar assists in investigating these tragic cases through family screening, ECG interpretation, and molecular autopsy coordination when appropriate.
When fainting occurs in someone with a known family history of heart disease or sudden death, inherited rhythm conditions must be considered. A combination of ECG, Holter monitoring, stress testing, and genetic testing can help uncover the cause.

Take Control of Your Heart Health Today.

A/Prof Saurabh Kumar brings over 15+ years of clinical expertise to the care of patients with heart rhythm disorders and general cardiac conditions. He is widely regarded within the Australian cardiology community and internationally for his depth of knowledge, collaborative style, and commitment to patient-centred care.

He holds dual roles as a Staff Specialist Cardiologist and Cardiac Electrophysiologist at Westmead Hospital and Clinical Associate Professor of Medicine at the University of Sydney. He currently serves as the Program Director for Ventricular Arrhythmias and Sudden Cardiac Death at Westmead Hospital and is the Translational Electrophysiology Lead at the Westmead Applied Research Centre, University of Sydney.

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