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Genetic Testing in PAH: Assessing Clinical Risk and Prognostic Significance of Mutations
Session:
Sessão de Posters 06 - Hipertensão Pulmonar
Speaker:
Diogo Rosa Ferreira
Congress:
CPC 2024
Topic:
I. Hypertension
Theme:
21. Pulmonary Circulation, Pulmonary Embolism, Right Heart Failure
Subtheme:
21.2 Pulmonary Circulation, Pulmonary Embolism, Right Heart Failure – Epidemiology, Prognosis, Outcome
Session Type:
Cartazes
FP Number:
---
Authors:
Diogo Ferreira; Catarina Simões Oliveira; Ana Margarida Martins; Ana Beatriz Garcia; Catarina Resende; Oana Moldovan; Tatiana Guimarães; Susana Robalo Martins; Nuno Lousada; Fausto J. Pinto; Rui Plácido
Abstract
<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><strong>Introduction</strong></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">: Pulmonary Arterial Hypertension (PAH) is often associated with genetic mutations (GM), more frequently with the bone morphogenetic protein type II (BMPR2) gene. The identification of GM is useful for early diagnosis (dx) and treatment of relatives. However, it is still not well established whether GM are associated with worse clinical outcomes. </span></span></span></p> <p> </p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><strong>Purpose</strong></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">: To analyze a population submitted to genetic testing and compare outcomes between patients with and without GM.</span></span></span></p> <p> </p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><strong>Methods</strong></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">: We performed a single-center, retrospective study with patients from 2010 to 2023, with a confirmed dx of PAH and who were submitted to genetic testing (BMPR2 or next generation sequencing panel). A control group (CG) was established, considering functional class (FC), six-minute walking test (6MWT), mean pulmonary artery pressure (mPAP), and tricuspid annular plane systolic excursion (TAPSE)/ systolic PAP (sPAP) ratio. Clinical characteristics, biomarker levels, hemodynamic and echocardiographic parameters were collected from patients’ records. Mann-Whitney or t-test analysis were performed to evaluate differences between the mutation group (MG) and the CG. Kaplan Meier analysis and log rank tests were used to compare survival between both groups.</span></span></span></p> <p> </p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><strong>Results</strong></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">: We had access to the results of 36 patients’ tests, of which 12 identified a GM (diagnostic yield 33%). Of these, 2 were asymptomatic carriers and 10 were diagnosed with PAH. Seven GM were identified in BMPR2 (58%), 2 in ACVRL1 (17%) and 1 in ABCC8, FOXF1 and EIF2AK4 genes (8% each).</span></span></span></p> <p> </p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">Regarding PAH patients with GM, 70% were female, mean age at dx was 42</span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><span style="background-color:#ffffff">±10 years and most were on FC III. </span></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">When comparing with the CG (n=14), NTproBNP levels were higher (1609 vs. 194 pg/mL, p=0.022), pulmonary vascular resistance was higher (16.1</span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><span style="background-color:#ffffff">±</span></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">7.7 vs. 9.1</span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><span style="background-color:#ffffff">±</span></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">5.3 WU, p=0.026), cardiac index was lower (1.85</span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><span style="background-color:#ffffff">±0.34 vs. 2.40±0.69L/min/m</span></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><span style="background-color:#ffffff"><sup>2</sup></span></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">, p=0.036) and TAPSE was lower (16</span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><span style="background-color:#ffffff">±4 vs. 21±5mm, p=0.047).</span></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"> In the MG, a higher proportion of patients were under PAH triple therapy (60% Vs. 35.7%), although it was not statistically significant.</span></span></span></p> <p> </p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">Mean follow-up time was 49</span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><span style="background-color:#ffffff"> months (mo) in the MG and 67 mo in the CG. </span></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">There were no statistically significant differences regarding time to death (p=0.843) or time to hospital admission or death (p=0.290).</span></span></span></p> <p><br /> <span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><span style="background-color:#ffffff"><strong>Conclusion</strong></span></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><span style="background-color:#ffffff">: In our population, genetic testing had a good diagnostic yield. PAH patients with GM presented with higher clinical risk, in what NTproBNP levels, right ventricular function and hemodynamic profile were concerned. However, these differences did not seem to affect prognosis.</span></span></span></span></p>
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