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
Outcomes of family screening for Hereditary Cardiac Diseases Screening – Genetic confirmed cardiomyopathy or arrhythmia as models for primary prevention
Session:
Sessão de Posters 17 - Genética em Cardiologia 2
Speaker:
Susana Lemos Ferreira
Congress:
CPC 2024
Topic:
F. Valvular, Myocardial, Pericardial, Pulmonary, Congenital Heart Disease
Theme:
20. Congenital Heart Disease and Pediatric Cardiology
Subtheme:
20.6 Congenital Heart Disease – Clinical
Session Type:
Cartazes
FP Number:
---
Authors:
Susana Lemos Ferreira; Mariana Policarpo; Mafalda Melo; Inês Custódio Santos; Silvia Aguiar Rosa; Margarida Venâncio; Diana Antunes
Abstract
<p>Background: Inherited cardiomyopathies and arrhythmias (ICAs) are a clinically heterogeneous and prevalent group of disorders characterised by high genetic and allelic heterogeneity, incomplete penetrance/ age-related penetrance and variable expressivity, and are associated with increased risk of sudden cardiac death and heart failure. Family screening is recommended by cardiovascular societies with clinical evaluation and genetic testing to identify at-risk relatives, and thus improving their surveillance and management. </p> <p>Aim: To report the outcome of family screening after identification of a (likely) pathogenic variant in a symptomatic patient with ICAs. </p> <p>Methods: Retrospective review of genotype, phenotypic and clinical outcome data of 190 relatives of 65 probands with a clinical and molecular diagnosis of ICAs (hypertrophic cardiomyopathy [29], dilated cardiomyopathy [21], arrhythmogenic right ventricular cardiomyopathy [4], Non-compaction cardiomyopathy [3], long QT syndrome [5] and Brugarda syndrome [2]) referred to our Genetics Department (2016-2022) in a Portuguese tertiary hospital. </p> <p>Results: After genetic counselling 190 at-risk relatives underwent a genetic testing and overall, 111/190 (58%) were genotype-positive (G+) and 79/190 were genotype-negative (G-) leading to discharge from clinical follow-up. 168/190 (88%) relatives were phenotype-negative (P-) at the first appointment and 22/190 (12%) were phenotype-positive (P+). After clinical evaluation, 18/168 (11%) of the previous P- received a clinical diagnosis consistent with G+ status, and 3/168 (2%) had other traits associated with ICAs. 89/168 (53%) of P- were G+ and 22/22 (100%) P+ were also G+. </p> <p>During follow-up, 7/111 (6%) received an implantable cardioverter defibrillator in primary prevention and 4/111 (4%) in secondary prevention, 1/111 (1%) required cardiac resynchronization therapy, 1/111 underwent septal reduction therapy, 1/111 (1%) cardiac transplantation. 19/111 (17%) started medical therapy, and 58/111 (52%) remained asymptomatic and maintained routine follow-up. Lastly, 2/111 of the G+P+ relatives died due to complications associated with their ICAs diagnosis. </p> <p>Conclusion: Family screening allows an early identification of at-risk relatives and discharge of family members G-P-. Timely management of G+ relatives in an earlier disease stage might led to better clinical outcomes. Longer-term follow-up is necessary to better understand clinical outcomes, particularly of the G+P- patients. </p>
Slides
Our mission: To reduce the burden of cardiovascular disease
Visit our site