Center of Excellence
Cardiac Amyloidosis
Program Overview
Program Overview
Through advanced imaging, genetic evaluation, laboratory testing, and multidisciplinary care coordination, our team works to identify cardiac amyloidosis as early as possible and guide patients toward appropriate treatment. Early recognition is critical, as timely diagnosis can help prevent irreversible damage to the heart and improve long-term outcomes.
What Is Cardiac Amyloidosis?
Cardiac amyloidosis develops when abnormal proteins, called amyloid, build up in the heart muscle, causing it to stiffen and lose its ability to fill and pump effectively.
The condition may be hereditary or acquired and typically stems from one of two protein types:
- Transthyretin (ATTR) amyloidosis, either inherited or age-related (“wild-type”)
- Light-chain (AL) amyloidosis, caused by abnormal plasma cells that overproduce protein fragments
Because its symptoms often resemble other forms of heart failure, cardiac amyloidosis may go unrecognized without specialized testing and clinical expertise. Symptoms such as fatigue, shortness of breath, swelling, and thickened heart muscle may be attributed to more common cardiac conditions.
Identifying whether the condition is ATTR or AL is important, as each requires a different treatment approach.
How We Can Help
Our Center of Excellence brings together advanced diagnostic tools and subspecialty expertise to evaluate and treat cardiac amyloidosis with a coordinated approach.
We support patients from initial suspicion through diagnosis and ongoing care, helping them move more quickly toward answers and treatment. We offer:
- Comprehensive evaluation for unexplained heart failure, left ventricular hypertrophy, or restrictive cardiomyopathy
- Advanced multimodality imaging including echocardiography with strain analysis, cardiac MRI, and nuclear scintigraphy
- Genetic testing and counseling for hereditary forms of the disease
- Coordinated care with hematology, neurology, and nephrology to manage systemic involvement
- Access to disease-modifying therapies including transthyretin stabilizers and gene-silencing treatments
- Personalized care plans focused on symptom management, cardiac function, and quality of life
Early and accurate diagnosis allows patients to begin treatment sooner and helps prevent further progression of the disease.
Conditions We Treat
Many patients are referred for further evaluation after presenting with unexplained heart failure, increased heart wall thickness, or signs of a possible infiltrative cardiomyopathy. We specialize in evaluating and managing conditions such as:
- Transthyretin (ATTR) cardiac amyloidosis, hereditary and wild-type
- Restrictive cardiomyopathy
- Heart failure with preserved ejection fraction (HFpEF) of uncertain origin
- Infiltrative or hypertrophic cardiomyopathies
Testing & Diagnostics
We provide a full spectrum of diagnostic and confirmatory testing designed to determine whether amyloid is present, identify the subtype, and understand how the heart is affected.
- Echocardiography with strain imaging
- Cardiac MRI
- Nuclear scintigraphy (99mTc-PYP scan)
- Serum and urine protein electrophoresis with immunofixation
- Serum free light chain assay
- Endomyocardial biopsy and tissue typing
- Genetic testing for TTR gene mutations
- Comprehensive metabolic and organ function panels
These tools are used together to support accurate diagnosis and guide treatment decisions. Our team works closely with advanced heart failure, electrophysiology, interventional, structural, and imaging specialists to ensure a complete assessment of cardiac involvement and overall function.
Symptoms and When to Suspect Cardiac Amyloidosis
Cardiac amyloidosis can be difficult to recognize because its symptoms often overlap with other forms of heart disease.
- Shortness of breath
- Fatigue or reduced exercise tolerance
- Swelling in the legs or abdomen
- Thickened heart muscle on imaging
- Irregular heart rhythms
It may be suspected in patients with unexplained heart failure or symptoms that do not respond to standard treatments.
What to Expect
The evaluation process typically begins with a comprehensive clinical assessment and advanced imaging.
Patients may undergo additional laboratory testing, genetic evaluation, or specialized imaging to confirm the diagnosis and determine the specific type of amyloidosis.
Once a diagnosis is established, a personalized treatment plan is developed and may include medication, disease-modifying therapy, and coordinated care across specialties.
Ongoing follow-up care is essential for monitoring disease progression.
ATTR vs. AL Amyloidosis
- Cardiac amyloidosis most commonly occurs as either transthyretin (ATTR) or light-chain (AL) amyloidosis.
- ATTR amyloidosis is related to a protein produced by the liver and may be hereditary or develop with age.
- AL amyloidosis is caused by abnormal plasma cells and often requires coordination with hematology.
- Distinguishing between these types is essential because each requires a different treatment approach.
Why Choose the NCH Rooney Heart Institute
The Cardiac Amyloidosis Center of Excellence at the Rooney Heart Institute is designed as a specialized program for evaluating and managing a complex and often underdiagnosed condition, serving patients across Naples and Southwest Florida.
A dedicated cardiac amyloidosis program focused on evaluation and management
Seamless multispecialty collaboration under one roof
Personalized, compassionate care for patients across Naples and Southwest Florida
Access to emerging therapies and clinical research opportunities
Specialized expertise in advanced heart failure