Diagnostic algorithm in transthyretin amyloidosis with cardiomyopathy
Year: 2020
Type: article
Abstract: Transthyretin cardiac amyloidosis is a restrictive cardiomyopathy ((ATTR-CM), caused by an extracellular deposition of insoluble amyloid fibrils in the myocardium. It is a life threatening disease with life expectancy of 2 to 6 years after diagnosis. There are two types – hereditary and wild type. Recent data reveal that the wild type ATTR-CM is a common cause of heart failure with preserved ejection fraction, especially in elderly men. Hereditary ATTR amyloidosis is not so rare in Bulgaria. Five different mutations have been diagnosed, the most common being p.Glu89Gln, identified in 62 unrelated families with 117 patients and 72 mutation carriers. ATTR-CM diagnosis is often delayed or even missed, however its early recognition has become very important as a new drug, which is a transthyretin stabilizer is now available and other drugs are under development. Updated knowledge about the clinical presentation, diagnostic algorithm, available and future therapeutic options for ATTR-CM are a prerequisite for an early identification, timely treatment and better prognosis of the affected patients. The diagnosis requires a multidisciplinary approach with the participation of experienced specialists, multimodality imaging, well equipped histopathological and genetic laboratories. Establishing centres of expertise could improve the management of the patients with ATTR-CM.
Source: Bulgarian Cardiology
Institutions: Ministry of Interior, Queen Giovanna Hospital, Acibadem City Clinic, University Hospital St. Marina, Tokuda Hospital, Pirogov Russian National Research Medical University, Alexandrovska Hospital, New Bulgarian University, University Multipurpose Hospital for Active Treatment "Sveti Georgi"
Language: English
Subfield: Internal Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W3040544697