Local Expertise Brings Hope For Rare Heart Defect

Heart disease is often viewed through the lens of lifestyle risks and coronary blockages. Yet, among the lesser-known conditions lies Ebstein Anomaly, a rare congenital heart defect that quietly challenges patients from birth but is now increasingly treatable thanks to local medical expertise.

Once considered a niche condition requiring overseas intervention, Malaysia’s growing pool of cardiac specialists and advanced surgical capabilities is changing that narrative.

“We now have the expertise, technology and infrastructure to treat even the most complex congenital heart cases locally.

“However, for patients with Ebstein Anomaly, early diagnosis and timely intervention can make a world of difference,” National Heart Institute Clinical Director for Congenital Heart Surgery and Senior Consultant Cardiothoracic Surgeon Dr Sivakumar Sivalingam said.

Dr Sivakumar shared that Ebstein Anomaly affects the tricuspid valve, the gateway between the heart’s right atrium and right ventricle.

“In affected individuals, the valve is abnormally formed and displaced, causing inefficient blood flow and strain on the heart.

“Patients with this heart disease may experience fatigue, shortness of breath and irregular heartbeats. Severe cases can lead to heart failure or arrhythmias, underscoring the importance of early detection,” he warned.

While the condition affects only about one in 200,000 live births worldwide, its rarity often leads to underdiagnosis.

“Some patients live for years unaware of their condition, while others require intervention in early childhood,” Dr Sivakumar explained.

From Diagnosis to Treatment: A Spectrum of Care

Management of Ebstein Anomaly varies according to severity.

“For milder cases, regular monitoring and lifestyle adjustments are sufficient. But in advanced scenarios, patients may need medications or surgical correction.

“The Cone repair technique, now the preferred approach, reconstructs the tricuspid valve to restore normal function and reduce long-term complications. When repair isn’t viable, valve replacement using a prosthetic option becomes necessary,” he said.

However, Dr Sivakumar highlighted that their focus is always on preserving the patient’s own valve whenever possible, as this ensures better long-term outcomes and quality of life.

He then shared that the growing ability to treat complex congenital heart conditions like Ebstein Anomaly domestically signals a significant milestone for Malaysia’s healthcare ecosystem.

“Local centres of excellence now offer comprehensive, end-to-end care from diagnosis and surgical intervention to long-term rehabilitation.

“This reduces dependency on overseas referrals and strengthens Malaysia’s positioning as a regional hub for specialised cardiac care.

“Patients no longer need to travel abroad for these procedures as we can provide international-standard care right here, ensuring accessibility, affordability and continuity,” Dr Sivakumar emphasised, adding that from a business perspective, this reflects more than medical progress; it’s a case study in healthcare investment, talent retention and public confidence in local expertise.

The Case for Early Intervention

Nevertheless, Dr Sivakumar stressed that early detection is critical, similar to many other congenital heart diseases. Following the introduction of the Cone repair, early surgery is recommended before symptoms appear, as this gives better long-term outcomes and preserves the function of the right ventricle.

“With greater awareness among primary care providers and the public, more patients can receive timely evaluation and treatment.

“The sooner we identify and treat the condition, the better the prognosis. With the right care, patients can lead full, productive lives, contributing to their families, communities and the economy,” Dr Sivakumar said.

A Call for Awareness and Collaboration

While Ebstein Anomaly remains rare, it represents a broader conversation about Malaysia’s readiness to manage complex health challenges.

Advancements in cardiothoracic surgery, combined with targeted investment in healthcare infrastructure, are enabling world-class outcomes.

As Malaysia continues to strengthen its healthcare capabilities, Dr Sivakumar emphasised that conditions like Ebstein Anomaly highlight the value of innovation, expertise and cross-sector collaboration are vital ingredients in building a resilient, patient-centred healthcare system.

With expert local care and early intervention, even the rarest heart conditions no longer need to be a life sentence. For Malaysia, it’s a testament to how strategic investment in healthcare can yield both clinical and societal dividends.