Suspicion and referral of patients with transthyretin amyloid cardiomyopathy: Recommendations by a Portuguese multidisciplinary expert panel

Abstract

Early diagnosis of transthyretin amyloid cardiomyopathy (ATTR-CM) is crucial for better disease management and outcome. To ensure timely diagnosis, a multidisciplinary panel of Portuguese experts, including cardiologists, internal medicine specialists, and general practitioners, have developed a national consensus to aid physicians in enhancing the referral of patients with suspicion of ATTR-CM in Portugal. A structured approach was used to develop the consensus: (1) an online survey aimed at identifying clinical red flags, patient journeys, and diagnostic tools related to ATTR-CM; (2) a face-to-face roundtable meeting where the survey findings were discussed and a consensus was reached on referral and diagnostic algorithms for ATTR-CM in Portugal; and (3) critical review of the proposed algorithms. The referral and diagnostic algorithms for ATTR-CM in Portugal were developed considering current recommendations, but also the existence of a nationwide network of specialized cardiomyopathy clinics and national reference centers for familial amyloid polyneuropathy due to the endemic p.V50M variant. This collaborative effort aims to enhance awareness, facilitate timely referrals and improve early diagnosis, ultimately ensuring better management of ATTR-CM patients in Portugal.

Keywords: Algorithm; Algoritmo; Amiloidose cardíaca; Cardiac amyloidosis; Consenso; Consensus; Diagnosis; Diagnóstico; Miocardiopatia por amiloidose de transtirretina; Referenciação; Referral; Transthyretin amyloid cardiomyopathy.