Login
Search
Search
0 Dates
2026
2025
2024
2023
2022
2021
2020
2019
2018
0 Events
CPC 2018
CPC 2019
Curso de Atualização em Medicina Cardiovascular 2019
Reunião Anual Conjunta dos Grupos de Estudo de Cirurgia Cardíaca, Doenças Valvulares e Ecocardiografia da SPC
CPC 2020
CPC 2021
CPC 2022
CPC 2023
CPC 2024
CPC 2025
CPC 2026
0 Topics
A. Basics
B. Imaging
C. Arrhythmias and Device Therapy
D. Heart Failure
E. Coronary Artery Disease, Acute Coronary Syndromes, Acute Cardiac Care
F. Valvular, Myocardial, Pericardial, Pulmonary, Congenital Heart Disease
G. Aortic Disease, Peripheral Vascular Disease, Stroke
H. Interventional Cardiology and Cardiovascular Surgery
I. Hypertension
J. Preventive Cardiology
K. Cardiovascular Disease In Special Populations
L. Cardiovascular Pharmacology
M. Cardiovascular Nursing
N. E-Cardiology / Digital Health, Public Health, Health Economics, Research Methodology
O. Basic Science
P. Other
0 Themes
01. History of Cardiology
02. Clinical Skills
03. Imaging
04. Arrhythmias, General
05. Atrial Fibrillation
06. Supraventricular Tachycardia (non-AF)
07. Syncope and Bradycardia
08. Ventricular Arrhythmias and Sudden Cardiac Death (SCD)
09. Device Therapy
10. Chronic Heart Failure
11. Acute Heart Failure
12. Coronary Artery Disease (Chronic)
13. Acute Coronary Syndromes
14. Acute Cardiac Care
15. Valvular Heart Disease
16. Infective Endocarditis
17. Myocardial Disease
18. Pericardial Disease
19. Tumors of the Heart
20. Congenital Heart Disease and Pediatric Cardiology
21. Pulmonary Circulation, Pulmonary Embolism, Right Heart Failure
22. Aortic Disease
23. Peripheral Vascular and Cerebrovascular Disease
24. Stroke
25. Interventional Cardiology
26. Cardiovascular Surgery
27. Hypertension
28. Risk Factors and Prevention
29. Rehabilitation and Sports Cardiology
30. Cardiovascular Disease in Special Populations
31. Pharmacology and Pharmacotherapy
32. Cardiovascular Nursing
33. e-Cardiology / Digital Health
34. Public Health and Health Economics
35. Research Methodology
36. Basic Science
37. Miscellanea
0 Resources
Abstract
Slides
Vídeo
Report
CLEAR FILTERS
Genetic influences on clinical and imaging outcomes in dilated cardiomyopathy
Session:
Sessão de Posters 28 - Do diagnóstico à decisão: cuidados orientados por imagem na era moderna
Speaker:
Andreia Lopes Sousa
Congress:
CPC 2026
Topic:
---
Theme:
---
Subtheme:
---
Session Type:
Posters Eletrónicos
FP Number:
---
Authors:
Mónica Dias; Andreia Sousa; Sabrina Diniz Padrão; Sofia Fernandes; Carla Ferreira; Filipe Vilela; Bárbara Rocha; João Faria; Nuno Salomé; Carla Marques Pires
Abstract
<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-size:12.0pt"><span style="font-family:"Calibri",sans-serif">Introduction: </span></span></strong><span style="font-size:12.0pt"><span style="font-family:"Calibri",sans-serif">Dilated cardiomyopathy (DCM) is a heterogeneous disease influenced by both genetic and environmental factors, often leading to heart failure and arrhythmias. Advances in genetic screening and imaging have improved diagnosis and prognosis, but their implementation remains inconsistent in clinical practice. </span></span></span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-size:12.0pt"><span style="font-family:"Calibri",sans-serif">Aim: </span></span></strong><span style="font-size:12.0pt"><span style="font-family:"Calibri",sans-serif">This study aimed to correlate genetic variants with imaging findings, clinical outcomes, and therapeutic responses, as well as to characterize the population with DCM based on etiology. Additionally, it sought to evaluate the diagnostic work-up performed in this population. </span></span></span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-size:12.0pt"><span style="font-family:"Calibri",sans-serif">Methods: </span></span></strong><span style="font-size:12.0pt"><span style="font-family:"Calibri",sans-serif">A single-center retrospective observational study was conducted including patients with diagnosis of dilated cardiomyopathy from 2020 to 2024. A full characterization, according to baseline characteristics, diagnostic workup and genetic or non-genetic etiology was performed. </span></span></span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-size:12.0pt"><span style="font-family:"Calibri",sans-serif">Results: </span></span></strong><span style="font-size:12.0pt"><span style="font-family:"Calibri",sans-serif">The study included 309 patients with diagnosis of DCM, mean age of 68±14 years, 65% male. Of those<strong> </strong>considered to have idiopathic DCM (73%), only 52% underwent cardiac magnetic resonance (CMR) and 12% genetic testing. Familial DCM accounted for 3% of the cases; acquired forms (25%) were mainly alcohol- and chemotherapy-related, yet genetic testing was performed in only 5% and 7% of these cohorts, respectively.</span></span></span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Aptos,sans-serif"><span style="font-size:12.0pt"><span style="font-family:"Calibri",sans-serif">Titin mutations were linked to higher LVEF (38.2% vs. 31.5%, p=0.04) and better treatment response, while filamin C mutations were associated with more arrhythmic events (67% vs. 22%, p<0.01). Patients reaching the composite endpoint of ventricular arrhythmic events and heart failure progression had larger LV diameters (66±5 vs. 59±5mm, p=0.03), higher LA volumes (52±7 vs 45±6 mL/m², p=0.02), lower left ventricle ejection fraction (29±4% vs 37±4%, p<0.01), and more prevalence of CMR fibrosis (72% vs 45%, p=0.02). </span></span></span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-size:12.0pt"><span style="font-family:"Calibri",sans-serif">Conclusions: </span></span></strong><span style="font-size:12.0pt"><span style="font-family:"Calibri",sans-serif">Idiopathic DCM was the most common form of DCM, but familial cases were likely underdiagnosed due to low genetic testing, particularly in subgroups of acquired toxic DCM. Titin mutations favored recovery of function, while filamin C increased arrhythmic risk. Worse outcomes were linked to fibrosis and cardiac dysfunction. Expanding screening as recommended by guidelines could enhance diagnosis, improving treatment with impact on prognosis. </span></span></span></span></p>
Slides
Our mission: To reduce the burden of cardiovascular disease
Visit our site