SPC365

ATTR-CM in a real-world referral center: a 3-year experience Diagnosis and treatment challenges

Session: Comunicações Orais - Sessão 18 - Insuficiência cardíaca: tratamento
Speaker: Ana Rita Bello

Congress: CPC 2023
Topic: D. Heart Failure
Theme: 10. Chronic Heart Failure
Subtheme: 10.4 Chronic Heart Failure – Treatment
Session Type: Comunicações Orais
FP Number: ---
Authors: Ana Rita Bello; Sérgio Maltês; Mariana Paiva; Rita Amador; Andreia Marques; Catarina Oliveira; Carlos Aguiar; Miguel Mendes; Bruno Rocha

<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:&quot;Times New Roman&quot;,serif"><u><span style="font-family:&quot;Calibri&quot;,sans-serif">Background:</span></u><span style="font-family:&quot;Calibri&quot;,sans-serif"> Transthyretin amyloid cardiomyopathy (ATTR-CM) is a rare and an underdiagnosed cause of heart failure (HF). Appropriate local diagnostic and treatment pathways in specialized outpatient clinics are critical to guarantee optimal patient management.</span></span></span></p>

<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:&quot;Times New Roman&quot;,serif"><u><span style="font-family:&quot;Calibri&quot;,sans-serif">Goal:</span></u><span style="font-family:&quot;Calibri&quot;,sans-serif"> <span style="color:#222222">To describe our center&rsquo;s three-year experience in diagnosing and treating an ATTR-CM cohort. Secondly, to assess the elegibility to disease-modifying treatment, as per center protocol, and patient outcomes.</span></span></span></span></p>

<p style="text-align:justify"><span style="font-size:12pt"><span style="background-color:white"><span style="font-family:&quot;Times New Roman&quot;,serif"><u><span style="font-family:&quot;Calibri&quot;,sans-serif"><span style="color:black">Methods:</span></span></u> <span style="font-family:&quot;Calibri&quot;,sans-serif"><span style="color:#222222">This is a single-center retrospective registry including all-comers with HF due to ATTR-CM between 2019 and 2022. Diagnosis was established according to the previously published algorithm by Gilmore et al., as per site protocol. Each patient had at least 2 hospital visits per-year.&nbsp;</span></span></span></span></span></p>

<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:&quot;Times New Roman&quot;,serif"><u><span style="font-family:&quot;Calibri&quot;,sans-serif"><span style="color:black">Results:</span></span></u> <span style="font-family:Calibri,sans-serif"><span style="color:#222222"><span style="background-color:white">A total of 141 patients were included (mean age 82&plusmn;6 years-old; 84% male; median&nbsp;</span><span style="background-color:white">NT-proBNP 3012 pg/mL [IQ 2077 - 7584]; 26% with left ventricle ejection fraction &lt;50%); median GLS -6,5% [-124 - -7.2]). The majority had ATTR-CM diagnosis confirmed by the non-invasive algorithm &ndash; all patients performed 99mTc-HMDP bone scintigraphy (all but one patient with grade 2-3 Perugini) and 13 patients&nbsp;(11%) had endomyocardial-biopsy&nbsp;confirmed&nbsp;ATTR-CM diagnosis. Genetic test was performed in 30% of the patients and gene variants were detected in 9 patients (6%) - most with a Val50Met (n=5)&nbsp;</span><span style="background-color:white">mutation. A&nbsp;total of 61 patients (43,2%) were started on disease-modifying therapy with tafamidis 61mg; 33 patients (23%) were considered non-eligible&nbsp;due to poor functional status,&nbsp;severe HF symptoms (NYHA III-IV) or other significant comorbidities. When assessing patients started on tafamidis, these showed a&nbsp;better functional status (mean Karnofsky score 82 &plusmn; 15 vs. 56 &plusmn; 15, p&lt;0.001; mean frailty score 3 &plusmn; 1 vs. 5 &plusmn; 2, p&lt;0.001), and lower NT-proBNP (2626pg/mL [IQ 1541-3711] vs 5687 pg/mL [IQ 2520-8854]). During a median follow up of 12 months [IQ 2,8 - 15]</span><span style="background-color:white">; 22 patients died, of these, 4 were previously prescribed tafamidis.&nbsp;No drug-related severe adverse events were reported.&nbsp;</span></span></span></span></span><span style="font-size:12pt"><span style="background-color:white"><span style="font-family:&quot;Times New Roman&quot;,serif"><span style="font-family:&quot;Calibri&quot;,sans-serif"><span style="color:#222222">The number of patients in this follow-up increases every year, currently, at a rate of 47 patients per year.</span></span></span></span></span></p>

<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:&quot;Times New Roman&quot;,serif"><u><span style="font-family:&quot;Calibri&quot;,sans-serif">Conclusions:</span></u><span style="font-family:&quot;Calibri&quot;,sans-serif"> Appropriate ATTR-CM recognition and patient management in specialized rare-disease programs is essential. Early diagnosis through implementation of in-hospital alert pathways may identify ATTR-CM at an earlier stage, thus allowing patients to initiate disease-modifying therapies before cardiac damage ensues and prognosis is irreversibly affected.</span></span></span></p>