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Genetic and Clinical Determinants of Obstructive Myocardial Infarction Compared with MINOCA: Insights from a Southern European Cohort
Session:
Sessão de Posters 34 - INOCA, MINOCA e a zona cinzenta da doença coronária
Speaker:
Ana Filipa Escórcio Silva
Congress:
CPC 2026
Topic:
E. Coronary Artery Disease, Acute Coronary Syndromes, Acute Cardiac Care
Theme:
13. Acute Coronary Syndromes
Subtheme:
13.1 Acute Coronary Syndromes – Pathophysiology and Mechanisms
Session Type:
Posters Eletrónicos
FP Number:
---
Authors:
Filipa Silva; Maria Isabel Mendonça; Gonçalo Abreu; Francisco Sousa; Matilde Ferreira; Mariana Rodrigues; Eva Henriques; Sónia Freitas; Sofia Borges; António Drumond; Ana Célia Sousa; Roberto Palma Dos Reis
Abstract
<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><strong>Introduction:</strong> Myocardial infarction with nonobstructive coronary arteries (MINOCA) may arise from genetic susceptibility, particularly through mechanisms involving coronary microvascular dysfunction and thrombotic events. Behavioural triggers — such as smoking, substance use, stress, cold exposure, and certain medications — can also provoke coronary artery spasm. However, the underlying genetic contributors remain incompletely defined.</span></span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><strong>Objective:</strong> Identify the genetic, behavioural, and traditional risk factors associated with obstructive myocardial infarction (MI) compared with MINOCA in a Southern European population.</span></span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><strong>Methods:</strong> This prospective, single-centre observational cohort study included 1,633 patients fulfilling myocardial infarction criteria and admitted between January 2000 and December 2019. All underwent coronary angiography, evaluated by two interventional cardiologists using the Leaman Score; a score of 0 defined MINOCA. Traditional risk factors, behavioural variables, and biochemical markers were analysed. Peripheral DNA was genotyped using TaqMan assays for 33 CAD-related SNPs. Associations between genetic variants and traditional risk factors associated withobstructive MI were examined using bivariate and multivariate logistic regression.</span></span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><strong>Results:</strong> Among the 1,633 patients, 87 (5.3%) were classified as MINOCA. Compared with patients with obstructive MI, MINOCA individuals showed significantly lower prevalence of hypertension, type 2 diabetes, and metabolic syndrome, and reported higher physical activity. In bivariate analyses, five SNPs were significantly associated with the obstructive MI when compared with MINOCA group: TCF21 GC+CC rs12190287 (90.8% vs 80.5%, respectively), PON RR rs662 (9.4% vs 1.1%), CDKN2B GG rs4977574 (38.2% vs 26.4%), ADIPOQ CG+GG rs266729 (42.4% vs 54.0%), and PCSK9 GA+AA rs2114580 (45.1% vs 32.2%) (dominant and recessive models). After multivariate adjustment, four variants remained independently associated with obstructive MI: TCF21 GC+CC (OR=2.67;p=0.001), CDKN2B GG (OR=1.94;p=0.011), PCSK9 GA+AA (OR=1.93; p=0.008), and PON 192 RR (OR=9.20;p=0.030). Among traditional risk factors, type 2 diabetes (p=0.017), age (p<0.0001), and sex (p<0.0001) were also independent predictors of obstructive MI.</span></span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><strong>Conclusion:</strong> MINOCA patients presented lower rates of cardiometabolic risk factors than those with obstructive MI. Genetic variants in TCF21, CDKN2B, PCSK9, and PON 192 emerged as independent contributors to obstructive MI.</span></span></span></p>
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