SPC365

Left ventricular transradial endomyocardial biopsy in Val30Met patients and negative bone scintigraphy: changing diagnostic paradigm

Session: Comunicações Orais - Sessão 13 - Miocardiopatias
Speaker: Catarina Gregório

Congress: CPC 2024
Topic: F. Valvular, Myocardial, Pericardial, Pulmonary, Congenital Heart Disease
Theme: 17. Myocardial Disease
Subtheme: 17.3 Myocardial Disease – Diagnostic Methods
Session Type: Comunicações Orais
FP Number: ---
Authors: Catarina Gregório; Marta Vilela; Ana Beatriz Garcia; Catarina Simões de Oliveira; Ana Abrantes; Ana Margarida Martins; Miguel Nobre Menezes; Isabel Conceição; Conceição Coutinho; Fausto J. Pinto; João R. Agostinho

<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><strong>Introduction:</strong> Transthyretin cardiac amyloidosis (ATTR-CM) diagnosis can be established in most cases by bone scintigraphy (BS). However, Val30Met (V30M) mutation is associated with lower sensibility of BS, mainly in patients (pts) with early onset phenotype. When ATTR-CM is suspected and BS Perugini score (PGs) is 0 or 1, endomyocardial biopsy (EMB) may be considered.</span></span></p>

<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><strong>Purpose:</strong> To describe a population of pts with V30M mutation with non-diagnostic BS submitted to left ventricular (LV) transradial EMB.</span></span></p>

<p style="text-align:justify"><span style="font-size:12pt"><span style="background-color:white"><span style="font-family:Calibri,sans-serif"><span style="color:black"><strong>Methods:</strong> Single-center </span>prospective<span style="color:black"> case-series of pts with </span>V30M mutation<span style="color:black"> submitted to EMB, due to suspicion of cardiac involvement despite non-diagnostic </span>BS<span style="color:black">. Demographics, clinical and ec</span>hocardiographic data was<span style="color:black"> analyzed. Hypertension control was </span>assessed<span style="color:black"> by 24h </span>blood pressure monitoring.</span></span></span></p>

<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><strong>Results: </strong>Six pts underwent LV EMB, a mean of 6.5 fragments were obtained with no complications reported. In 4, EBM confirmed the diagnosis of ATTR-CM and it was negative in 2. In pts with ATTR-CM confirmed by EMB, tafamidis (TF) 61mg was initiated. </span></span></p>

<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><u>Pt 1:</u> Male, 45 years-old, with no neurological involvement, NYHA I. EBM was required due to left ventricular hypertrophy (LVH) with interventricular septum (IVS) and posterior wall (PW) thickness of 14mm and 12mm, respectively, and E/e&acute;ratio was 9.5. BS PGs was 0. BEM was positive for ATTR-CM. </span></span></p>

<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><u>Pt 2:</u> Female, 41 years-old, with grade 1 neuropathy under TF 20mg, NYHA I. Pacemaker was implanted due to Mobitz 1 AV block (AVB). EBM was required due to LVH (IVS: 12mm; PW: 12mm) and LV strain of -13.5%, and was positive for ATTR-CM. BS PGs was 0. </span></span></p>

<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><u>Pt 3:</u> Female, 73 years-old, with grade 3 neuropathy under TF 20 mg, NYHA II. Renal and gastrointestinal involvement was present with positivity for amyloid on rectal biopsy. She had atrial fibrillation, controlled hypertension and a PMK due to Mobitz 2 AVB. EMB was required due to E/E&acute; ratio of 18 and left atrial enlargement (55ml/m2) despite no LVH being present. BS PGs of 0. BEM was positive for ATTR-CM. </span></span></p>

<p style="text-align:justify"><span style="font-family:Calibri,sans-serif"><u>Pt 4:</u><span style="font-size:12pt"> Female, 80 years-old, with grade 2 neuropathy under TF 20mg, NYHA II. She had controlled hypertension and a PMK due to 1</span><span style="font-size:13.3333px">st</span><span style="font-size:12pt">&nbsp;degree AVB and left bundle branch block. BS PGs was 1. LVH (IVS: 13mm) and left atrial enlargement (41ml/m2) led to EMB that was positive for ATTR-CM. </span></span></p>

<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><u>Pt 5:</u> Female, 75 years-old, no neurological involvement, NYHA I, with controlled hypertension and diabetes. BS PGs was 0. LVH with a IVS thickness of 12mm and a E/E&acute;ratio of 20 led to EMB, which was negative for ATTR.</span></span></p>

<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><u>Pt 6:</u> Female, 60 years-old, with grade 2 neuropathy under TF 20mg, NHYA I and controlled hypertension. BS PGs was 0. EMB was performed due to LVH with IVS of 12mm with a E/E&acute;ratio of 12.5 and was negative for ATTR.</span></span></p>

<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif">Conclusion: In pts with Val30Met mutation and slight suspicion of cardiac involvement, LV EMB should be performed despite negative bone scintigraphy in order to establish the diagnosis and guide therapy, given its safety profile and high diagnostic yield.</span></span></p>