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
Hypertrophic cardiomyopathy: clinical pathogenicity of two novel mutations in alpha-tropomyosin gene
Session:
CO - Prémio Jovem Investigador (Investigação Básica)
Speaker:
Nelson P. Cunha
Congress:
CPC 2019
Topic:
F. Valvular, Myocardial, Pericardial, Pulmonary, Congenital Heart Disease
Theme:
17. Myocardial Disease
Subtheme:
17.2 Myocardial Disease – Epidemiology, Prognosis, Outcome
Session Type:
Comunicações Orais
FP Number:
---
Authors:
Nelson P. Cunha; Tiago Graça Rodrigues; Pedro Silvério António; Joana Rigueira; Inês Aguiar Ricardo; Rafael Santos; Maria Mónica Mendes Pedro; Fátima Veiga; Fausto José Pinto; Hugo Madeira; Dulce Brito
Abstract
<p>Introduction: Mutations (mut) in the α-tropomyosin 1 gene (TPM1) are a rare cause (<1%) of hypertrophic cardiomyopathy (HCM) with only a few clearly defined as pathogenic.</p> <p>Aim: To describe the clinical profile of 7 unrelated families (F) with HCM associated with 2 different variants in TPM1 gene, pathogenic or very likely to be pathogenic (P/LP), none of them previously reported.</p> <p>Methods: From a cohort of 167 unrelated probands with HCM genetically screened, in 7 (4%) a P/LP variant was identified in TPM1 gene: p.Arg21Leu (c.62G>T, g.63335090G>T) in 5, and p.Met281Val (c.841A>G, g.63356331A>G) in 2. Samples (peripheral blood) were studied by a massive parallel sequencing method using a library that included >100 genes related to cardiomyopathies. In total, 28 individuals - 10/2F (p.Met281Val), 18/5F (p.Arg21Leu) - were genetically and clinically characterized at diagnosis and during follow up (Fup).</p> <p>Results: 19 (67.9%) patients (pts) had a positive genotype (G+): 15 G+ aged 56.3 +/- 16.9 (26-77) years (y), 53% men, met HCM phenotype (Ph+) - left ventricular hypertrophy (LVH) on echocardiography (echo) ; 4 pts, 48+/-6.8 y, 75% women, were only mutation carriers (G+/Ph-) The global penetrance (P) for both mutations was similar: p.Arg21Leu - 14G+/11Ph+, P: 78.6%; p.Met281Val-5G+/4Ph+, P: 80%. At the time of diagnosis (echo), G+/Ph+ pts were 44±19.5 (6-73)y-old. LVH was septal in 11, apical in 3, and concentric in 1; septal thickness was 16.3 ± 5.4 mm and maximal wall thickness 18.2±6 (13-33.5) mm. Left ventricular ejection fraction (LVEF) was preserved, and 3 pts had outflow obstruction at rest. Familial history of sudden death (SD) existed in 2 F. During Fup - 12.3 (1-44)y - 40% (6/15) had HCM-related hospitalizations due to symptoms (heart failure in 5), 2 pts developed atrial fibrillation, 2 needed a pacemaker, and 1 had surgical septal myectomy. LVH and LVEF didn’t change significantly during Fup. Regular ambulatory ECG monitoring registered episodes of VT in 2 pts (asymptomatic). Only 1 death occurred (refractory acute heart failure).</p> <p>Conclusions: The two variants in TPM1 gene described herein have a penetrance ~ 80%, and overall associate with relatively mild hypertrophy, late-onset of disease, and an indolent course, though seeming to be associated with a high risk of heart failure. Typical and atypical patterns of LVH are expected. The observed data favour the indication for both mutations to be used in familial screening, with predictive value.</p>
Slides
Our mission: To reduce the burden of cardiovascular disease
Visit our site