SPC365

Familial amyloid polyneuropathy: cardiac involvement in liver transplanted patients

Session: Posters (Sessão 4 - Écran 7) - Miocardiopatias hereditárias
Speaker: Ana Beatriz Garcia

Congress: CPC 2023
Topic: F. Valvular, Myocardial, Pericardial, Pulmonary, Congenital Heart Disease
Theme: 17. Myocardial Disease
Subtheme: 17.7 Myocardial Disease - Other
Session Type: Pósters Electrónicos
FP Number: ---
Authors: Ana Beatriz Garcia; João R. Agostinho; Pedro Alves da Silva; Daniel Cazeiro; Marta Varela; Diogo Ferreira; João Cravo; Ana Abrantes; Miguel Raposo; Catarina Gregório; João Fonseca; Catarina Simões de Oliveira; Ana Margarida Martins; Joana Brito; Beatriz Silva; Conceição Coutinho; Élia Mateus; Isabel Conceição; Fausto Pinto

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif"><strong>Introduction</strong></span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">Familial amyloid polyneuropathy (FAP) is a rare disease caused by transthyretin variant. Progressive neuropathy is a disease hallmark, however cardiac involvement is often underdiagnosed. </span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">Liver transplantation (LT) was frequently used in FAP patients. The course of amyloid cardiomyopathy (AC) in this population is poorly studied. </span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif"><strong>Objective </strong></span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">To evaluate cardiac involvement (CI) in liver transplanted FAP patients. </span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif"><strong>Methods</strong></span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">Medical records of FAP patients with V30M mutation were reviewed. Demographic, clinical, laboratory, echocardiographic, Holter recording and ambulatory blood pressure before LT and at follow-up (FUP) were collected. Descriptive and inferential statistics were performed to identify AC characterized by left ventricular hypertrophy (LVH) in the absence of abnormal loading conditions such as arterial hypertension or significant valvular heart disease. LVH was defined by either 1) interventricular septum or posterior wall dimension &ge; 12 mm or 2) index left ventricular mass &ge; 95 g/m<sup>2 </sup>in females and &ge; 115 g/m<sup>2</sup> in males. </span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif"><strong>Results&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; </strong></span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">We enrolled 112 pts (median age 36 &plusmn; 9 yrs at the time of LT; 55% men) followed during a mean time of 12 years after LT. </span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">At initial evaluation, a minority of patients were on cardiovascular therapy (CVT) (2% on diuretic, 2% on ACEi/ARB and 1% on beta-blocker) and the mean NTproBNP was 418 pg/mL. CI by criteria 1) was present in 21% and by criteria 2) in 15% of the population, raising the hypothesis that CI may start before LT. The mean age at the time of LT in patients with LVH criteria was 41 years (vs 36 years in the others). </span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">In patients that did not fulfil LVH criteria before LT, none developed it by criteria 1) (despite significant increase in posterior wall dimension &ndash; p = 0.01), but a significant number of patients (21%) developed cardiac involvement by criteria 2) (p &lt; 0.001). This progression was associated with the presence of chronotropic incompetence in stress test before LT (p = 0.01). </span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">At FUP, more patients were on CVT (15% on diuretic, 6% on ACEi/ARB and 11 % on beta-blocker). The mean NTproBNP was 595 pg/mL and no hospital admissions by heart failure occured. </span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif"><strong>Conclusion </strong></span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">Our results showed that cardiac involvement is a reality in FAP and that it can be present prematurely in patients with early onset phenotype even before liver transplant. The low rate of left ventricle hypertrophy development or progression after LT may suggest that it may halt cardiac involvement. </span></span></p>