by EH
A groundbreaking international study has identified an early marker of cardiac amyloidosis, a rare and often fatal heart disease, offering new hope for early intervention. Researchers at the University of Trieste, in collaboration with the Giuliano Isontina University Health Authority and the National Amyloidosis Centre in London, discovered that the infiltration of a specific protein into heart tissue could serve as a warning sign before symptoms appear. The findings, published in JAMA Cardiology and presented at the American Heart Association (AHA) Congress, suggest that early treatment could slow disease progression and improve survival rates.
Cardiac amyloidosis, specifically transthyretin cardiac amyloidosis (ATTR-CA), occurs when misfolded transthyretin proteins accumulate in heart tissues, impairing function. Traditionally diagnosed only in advanced stages, the disease has proven difficult to treat effectively. However, by using advanced imaging techniques, the research team found that even asymptomatic patients with moderate to severe cardiac infiltration (scintigraphic grade 2 and 3) displayed early signs of amyloid cardiomyopathy. Within three years, more than half of these patients developed symptoms requiring heart failure treatment.
“Current guidelines recommend treatment only after heart failure has developed, but our study indicates that earlier intervention could be crucial,” said Dr. Aldostefano Porcari, lead author and research fellow at the University of Trieste. “If we can identify and treat patients before symptoms appear, we may be able to slow or even halt disease progression.”
The study also sheds light on the nature of early-stage amyloid deposits, suggesting they may be more responsive to treatment than previously believed. This could pave the way for new therapies aimed at removing amyloid from heart tissue before irreversible damage occurs.
Historically, amyloidosis has been a difficult disease to diagnose and treat. It disproportionately affects men over 60 and is linked to plasma cell disorders, chronic illnesses, and genetic mutations. Until recently, detection was often delayed until severe cardiac impairment had already set in. However, the use of bone tracer scintigraphy combined with single-photon emission computed tomography (SPECT) and computed tomography (CT) has allowed researchers to spot the disease earlier than ever before.
The study involved 12 leading cardiology centers worldwide and was led by a team from Trieste, including Dr. Porcari, cardiology professor Gianfranco Sinagra, and resident physician Valentina Allegro. Dr. Porcari has been invited to present the findings at the prestigious Samuel A. Levine Early Career Clinical Investigator Award session, an honor recognizing young researchers contributing to clinical cardiology.
Looking ahead, further research is planned at the University of Trieste, involving experts in pathology and pharmacology to refine diagnostic and therapeutic approaches. The acquisition of a mass spectrometer for advanced amyloid deposit characterization marks another step toward developing more targeted treatments.
With these advancements, researchers hope to shift the treatment paradigm for cardiac amyloidosis, ensuring that patients receive care before irreversible damage occurs—potentially rewriting the future of this once-intractable disease.
