[Cardiac amyloidosis: Recent advances in the diagnosis and therapy]

Yüksel Çavuşoğlu, Ebru Özpelit, Ahmet Çelik, Barış İkitimur, Meral Kayıkçıoğlu, Lale Tokgözoğlu, Omaç Tüfekçioğlu, Mehmet Birhan Yılmaz
Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır 2019, 47 (Suppl 2): 1-34
Cardiac amyloidosis (CA) is a progressive cardiomyopathy in which misfolded endogenous proteins form amyloid fibrils that deposit in the heart as well as kidneys, liver, gastrointestinal tract and soft tissues. The most common forms of CA include immunoglobulin light chain (AL) amyloidosis and transthyretin (TTR) amyloidosis. Although cardiac amyloidosis is thought to be a very rare disease, emerging data suggested that 13% of heart failure patients with preserved ejection fraction and 16-26% of advanced aged patients with severe aortic stenosis may have TTR-CA. Amyloidosis with cardiac involvement shows poor prognosis with a median survival of 6 months in AL-CA and 26-43 months in TTR-CA. Early diagnosis and novel therapeutic options have been shown to significantly improve prognosis. Recent diagnostic techniques such as cardiac MR or nuclear scintigraphy using bone isotopes as well as increasingly wide use of echocardiography, genetic testing, biopsy and histopathological analysis allow the clinicians to make early diagnosis of CA. The aim of this paper is to provide a comprehensive review including etiology, clinical presentation, diagnosis and management of CA and to address recent important advances in noninvasive cardiac imaging techniques and novel therapeutic approaches based on the available data in the literature.

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