Login
Search
Search
0 Dates
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
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 characterization and genotype-phenotype associations in a large cohort of Portuguese hypertrophic cardiomyopathy patients
Session:
Posters 4 - Écran 10 - Miocárdio e Pericárdio
Speaker:
Luís Lopes
Congress:
CPC 2018
Topic:
F. Valvular, Myocardial, Pericardial, Pulmonary, Congenital Heart Disease
Theme:
17. Myocardial Disease
Subtheme:
17.3 Myocardial Disease – Diagnostic Methods
Session Type:
Posters
FP Number:
---
Authors:
Luís Lopes; Nuno Cardim; Dulce Brito; Adriana Belo; Portuguese Registry of Hypertrophic Cardiomyopathy (PRo-HCM) Investigators
Abstract
<p><strong>Introduction</strong></p> <p>The global results of the Portuguese Registry of Hypertrophic Cardiomyopathy (PRo-HCM) were recently published. We hereby present an ancillary study of the genotype data, which is the largest genetics study on Portuguese HCM patients (pts) to date.</p> <p> </p> <p><strong>Methods</strong></p> <p>All collected variants were re-analysed and classified for pathogenicity according to current criteria. Demographic, clinical, imaging and outcome data, including survival, were analysed for associations with genotype. Analyses focused on comparisons between pts with (G+) versus without (G-) a pathogenic/likely pathogenic (P/LP) variant in one the 9 main HCM causal sarcomeric genes (<em>MYH7, MYBPC3, TNNT2, TNNI3, MYL2, MYL3, ACTC1, TPM1, CSRP3</em>).</p> <p> </p> <p><strong>Results</strong></p> <p>From the 1042 HCM pts recruited to the registry, 528 (51%) had genetic testing. These were 51±16 years-old, 59% males and 97% caucasians; birthplace was 31% North, 28% Centre and 41% South. 436 (83%) were probands and 92 (17%) relatives. 69% of the relatives had genetic testing vs 48% of the probands. After reviewing the variants submitted by the investigators, 152 pts (28%) were G+ and 98 pts (19%) had variants of unknown significance. From the pts with at least the 9 mentioned genes sequenced (424), 14.6% had P/LP variants in <em>MYBPC3</em>, 8.7% <em>MYH7</em>, 4.5% <em>TNNT2</em>, 1.7% <em>TNNI3</em>, 0.2% <em>MYL2</em>. Genotype status was associated with the following demographic, clinical and imaging parameters: ethnicity (30% G+ in caucasians vs 0% others, p=0.043), birthplace (43% G+ Centre, 22% North, 39% South, p=0.005); type of patient (69% G+ in relatives, 20% index patients, p<0.001); age (46±17y in G+ vs 53±15y G-, p<0.001); family history of HCM (54% in G+ vs 12% in G-, p<0.0005); hypertension (16% in G+ vs 39% in G-, p<0.0005); prevalence of apical HCM (2% in G+ vs 16% in G-, p=0.006); family history of sudden cardiac death (SCD) (42% in G+ vs 26% in G-, p=0.002). G+ pts more frequently had more than one risk factor for SCD (p=0.033), a higher median ESC-SCD score (4.6vs2.7,p=0.003) and a lower prevalence of a low-risk score (score<4%) (39% vs 69%, p=0.002). In a survival analysis, G+ status was associated with SCD (p=0.017).</p> <p> </p> <p><strong>Conclusion</strong></p> <p>Only half of the Portuguese HCM pts had genetic testing. The percentage of positive results is relatively low (<30%) when using current strict criteria, but the total yield and the distribution among causal genes are similar to published populations. Importantly, G+ pts have distinct demographics, imaging characteristics and family history and are at increased risk of SCD. </p>
Our mission: To reduce the burden of cardiovascular disease
Visit our site