Cor Vasa 2026, 68(3):364-373

Odborné stanovisko Pracovní skupiny pro choroby myokardu a perikardu k léčbě transthyretinové srdeční amyloidózy(Expert consensus statement of the Working Group on Myocardial and Pericardiac Diseases on therapy of transthyretin cardiac amyloidosis)

Aleš Linhart^a, Tomáš Paleček^a, Jan Krejčí^b, Miloš Kubánek^c, Alice Krebsová^c, Vojtěch Melenovský^d, David Zemánek^a

^a II. interní klinika kardiologie a angiologie, 1. lékařská fakulta Univerzity Karlovy a Všeobecná fakultní nemocnice v Praze, Praha, Česká republika

^b I. interní kardioangiologická klinika, Lékařská fakulta Masarykovy univerzity a Fakultní nemocnice u sv. Anny v Brně, Brno, Česká republika

^c Centrum dědičných kardiovaskulárních onemocnění, Klinika kardiologie, Institut klinické a experimentální medicíny, Praha, Česká republika

^d Klinika kardiologie, Institut klinické a experimentální medicíny, Praha, Česká republika

Transthyretin cardiac amyloidosis (ATTR-CM) is a progressive infiltrative cardiomyopathy caused by the deposition of amyloid fibrils derived from destabilized transthyretin. In recent years, increasing evidence has shown that this condition is significantly underdiagnosed. Among elderly patients with heart failure with preserved ejection fraction, particularly men over 70 years of age, the prevalence of the wild-type form of ATTR-CM may exceed 10%, with a higher occurrence also described in patients with aortic stenosis. A typical feature in the medical history is carpal tunnel syndrome, often preceding the manifestation of cardiac involvement by several years. The diagnostic approach is based on a combination of clinical suspicion, imaging techniques, and laboratory testing. Echocardiography and cardiac magnetic resonance play a central role, enabling the identification of characteristic signs of myocardial amyloid infiltration. It is then essential to exclude AL amyloidosis using hematological tests aimed at detecting plasma cell dyscrasia (serum and urine immunofixation, and measurement of serum free light chains). If these tests are negative, non-invasive confirmation using bone scintigraphy (e.g., ^99mTc-DPD) is preferred. Genetic testing is ultimately required to distinguish between hereditary and wild-type forms of the disease. Therapeutic options for ATTR-CM have expanded substantially in recent years. The cornerstone of treatment consists of transthyretin stabilizers, which inhibit tetramer dissociation (e.g., tafamidis, acoramidis). Another important group includes gene silencers (siRNA, such as vutrisiran and patisiran, or antisense oligonucleotides, such as eplontersen), which reduce transthyretin synthesis in the liver. Emerging approaches include therapies aimed at removing amyloid deposits and gene editing strategies. An integral part of management remains supportive therapy, primarily targeting heart failure and arrhythmic manifestations, with an individualized approach. Early diagnosis and timely initiation of targeted therapy are crucial for slowing disease progression and improving long-term patient outcomes.

Keywords: Cardiac amyloidosis diagnosis, Clinical practice recommendations, Disease-modifying therapy, Transthyretin cardiac amyloidosis, Transthyretin stabilizers and gene silencers

Received: June 24, 2026; Accepted: June 24, 2026; Prepublished online: June 2, 2012; Published: July 1, 2026  Show citation