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Perspectives on amyloid cardiomyopathy

The next session of the conference saw a talk delivered by Dr Omar Abou Ezzeddine, Assistant Professor of Medicine and Senior Associate Consultant in the Department of Cardiovascular Medicine in the Mayo Clinic. Dr Ezzeddine spoke on the topic, ‘Amyloid cardiomyopathy (AC): The Mayo Experience’, and presented case studies and invited attendees to interact via the app and share their opinions on potential treatments for AC.

He presented data from a patient survey and explained that “in almost two-thirds of patients, it takes more than six months to obtain a diagnosis”.

He continued: “Two-thirds of patients need to see more than two physicians to even get this diagnosis; cardiologists make up only 20 per cent of the physicians who diagnose this disease, despite cardiac involvement,” explained Dr Ezzeddine. “Also, close to 50 per cent of patients received an incorrect diagnosis at first, and one-third actually required air travel in order to get the diagnosis.

“This is concerning, because early diagnosis is key and has prognostic implications — 50 per cent of patients die within one year if they have AL [amyloidosis] or light-chain amyloid, so patients are dying as we ponder this diagnosis.”

Dr Omar Abou Ezzeddine

However, “outcomes are no longer as grim as we learned they were in medical school,” he added. Dr Ezzeddine presented data to show that with modern therapies, 94 per cent of patients who are correctly diagnosed achieve two-year survival. “So this is no longer a deadly disease — we are starting to see chronic AL in patients who survive through stem-cell transplantation.”

He went on to describe non-invasive methods of confirming a diagnosis, for example bone-scan tracers that are injected and in cases of TTR amyloidosis, go to the heart muscle. “This technology was actually abandoned in the 1980s because some patients with amyloid had negative scans — but lo and behold, these were the light-chain patients and so they weren’t ‘lighting-up’.” He outlined studies that explored this method of making a diagnosis, which led to what Dr Ezzeddine described as “the revival of nuclear cardiology, because we are now able to diagnose TTR amyloid without a biopsy”.



Treatments

Briefly outlining therapies, he continued: “Arrhythmias are very common in this population; anticoagulation is a must, because these patients will have strokes. If you are going to cardiovert them, even if they have been on anticoagulation for years, you have to do a TEE [transesophageal echocardiography]. A recent publication of ours shows that these patients have persistent clots, despite having been on anticoagulation for years.”

He described how treatments for TTR have “really exploded in the past few years” and explained that treatments can either stop TTR amyloid production in the liver, [or] finally it infiltrates, and we can disrupt it.” He directed attendees to a Mayo Clinic YouTube channel dedicated to amyloid for further information on the Clinic’s approach to treating TTR and AL amyloidosis.

“In the Mayo Clinic, it really is a multidisciplinary practice [in treating these conditions]. You have to work with and know your haematologists and know your neurologists, because this truly is a multi-system medical problem.

“This is not a rare disease,” he concluded. “If you look for it, you will find it. This is no longer an epidemic disease; it has true consequences and it is not difficult to diagnose — just know that there are two types, AL and TTR. AL is an emergency but with TTR, you have a little more time and can proceed with non-invasive testing and as I said, early and accurate diagnosis is imperative.” 

The same session also featured a presentation from Dr Joe Galvin, Consultant Cardiologist in the Mater Misericordiae University Hospital, Dublin, on ‘Inherited Cardiovascular Conditions’, and Dr Juan Bowen, Assistant Professor of Medicine and Consultant in the Department of Internal Medicine at the Mayo Clinic, on the theme ‘Genetic Arthropathies’.

The attendees also heard a presentation by Dr Ronan Curtin, Consultant Cardiologist at Cork University Hospital, who addressed the conference on the topic ‘Multimodality Imaging’.

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