CARDIAC AMYLOIDOSIS UNIT
Unit Manager: Dr. María del Mar Pérez Gil
Amyloidosis is a potentially fatal, progressive, multisystem disease caused by the deposition of amyloid fibrils at the organ level.
This accumulation may be due to genetic variants (TTRv amyloidosis) or as a consequence of acquired conditions (AL amyloidosis or TTRwt amyloidosis).
Cardiac tissue damage is called cardiac amyloidosis and requires early detection and treatment. The goal is to halt the progression of the disease and possibly prevent irreversible heart damage.
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Cardiac amyloidosis is a common cause of heart failure and other conditions such as atrial fibrillation, rhythm blockages, structural alterations in heart valves, etc.
At the Cardiac Amyloidosis Unit, we are responsible for the diagnosis, treatment, and follow-up of patients with cardiac amyloidosis. Our primary care objective is:
- Accurate and Early Diagnosis: Monoclonal antibody testing to rule out AL amyloidosis. Identify the type of TTR amyloidosis using scintigraphy. Confirm the type of TTR amyloidosis (hereditary TTRv amyloidosis) or the non-hereditary native p amyloidosis (TTRwt) using genetic testing.
- Personalized Treatment: Assessment of suitability for initiating treatments that may modify the progression of the disease.
- Research and Innovation: Promoting research into new therapies and improving diagnostic methods.
- Comprehensive Patient Support: Continuous care and guidance for patients and their families, providing emotional and educational support throughout the treatment process.
We also coordinate the assessment and follow-up of each patient's needs by the various specialties, from Neurology, Internal Medicine, Nephrology, and Hematology, to provide comprehensive, high-quality care.
Medical consultation specializing in primary care and follow-up of patients with cardiac amyloidosis.
Specialized nursing consultation for a patient with heart failure secondary to amyloidosis.
Coordination with the Heart Failure Unit for disease management in the most complex patients.
Early referral consultation in case of suspicion by other specialties to rule out or confirm the disease.
Coordinated referral to the different specialties involved in the diagnosis and follow-up of the patient.
Care and guidance for family members of patients with hereditary cardiac amyloidosis. Medical advice and follow-up for family members with hereditary cardiac amyloidosis but no developed heart disease.
Among the different diagnostic tools available we have:
- 3D echocardiogram with myocardial strain technique.
- Cardiac magnetic resonance.
- Cardiac CT
- Genetic analysis.
- Electrocardiogram.
Comprehensive management of patients with cardiac amyloidosis by adjusting medical treatment for heart failure and treatments that have been shown to halt disease progression:
- Tetramer-stabilizing therapy (amyloid protein). Approved by the NHS for the treatment of patients with native or hereditary TTR cardiac amyloidosis from the early stages and stage 1 amyloid polyneuropathy.
- Treatments in Phase 3 trials with gene silencers (DNA sequences that bind to factors that regulate the transcription of amyloid protein).