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
Prevalence and Clinical implications of Double Sarcomere Mutations in patients with Hypertrophic Cardiomyopathy
Session:
Sessão de Posters 18 - Miocardiopatia hipertrófica: genética, fenótipo e desfechos
Speaker:
Márcia Presume
Congress:
CPC 2026
Topic:
F. Valvular, Myocardial, Pericardial, Pulmonary, Congenital Heart Disease
Theme:
17. Myocardial Disease
Subtheme:
17.2 Myocardial Disease – Epidemiology, Prognosis, Outcome
Session Type:
Posters Eletrónicos
FP Number:
---
Authors:
Márcia Presume; Débora Correia; Samuel Azevedo; André Garcia; Rui Gomes; Mariana Ramos; Raquel Montalvão; Margarida Matias; Carlos Aguiar; Oana Moldovan; Sérgio Maltês; Bruno Rocha
Abstract
<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:"Times New Roman","serif""><strong>Background:</strong> <span style="color:black">Hypertrophic cardiomyopathy (HCM) is a hereditary myocardial disorder, with an autosomal-dominant inheritance pattern. Patients with homozygous or compound heterozygous sarcomere gene mutations often present with a more severe clinical profile, characterized by earlier disease onset, and a higher risk of heart failure and sudden cardiac death (SCD). However, there is conflicting evidence on the precise prognostic predictive value of double mutations.</span></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:"Times New Roman","serif""><strong><span style="color:black">Aims</span></strong><span style="color:black">: To evaluate the prevalence and clinical implications of </span>carrying double sarcomeric mutations in a contemporary cohort of HCM. </span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:"Times New Roman","serif""><strong>Methods:</strong> We conducted a single-center retrospective study including consecutive HCM patients that had undergone genetic testing. Patients were classified as genotype-negative, single sarcomere mutation carries or double sarcomere mutation carriers. For the latter, homozygous and compound heterozygous were considered. For genotype categorization, positive cases were considered whenever likely pathogenic or pathogenic (LP/P) variants were present, as per the ACMG recommendations. The primary outcome was a composite of appropriate implantable cardioverter-defibrillator (ICD) shocks, heart transplantation or all-cause death. Event-free survival was assessed by using Cox regression models and Kaplan–Meier curves.</span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:"Times New Roman","serif""><strong>Results:</strong> Of a total of 550 patients with HCM, 323 (58.7%) had been genotyped. Of these, 14 had double mutations, 189 single mutations, and 120 were genotype-negative. Patients with double mutations were younger at diagnosis (41 vs. 57 vs. 63 years; p<0.001), more often presenting with a positive family history of HCM (35.7 vs. 19.3 vs. 6.7%; p=0.001) and of SCD (28.6 vs. 9.7 vs. 3.4%; p=0.002). Moreover, they also presented with higher disease burden: e.g., NYHA (III-IV 21.4 vs. 19.7 vs. 13.3%; p=0.001), NT-proBNP (3684 vs. 1000 vs. 453 pg/mL; p=0.005), burnout (42.9 vs. 9.0 vs. 5.0%; p<0.001) and ICD for secondary-prevention of SCD (28.6 vs. 6.3 vs. 1.7%; p<0.001).</span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:"Times New Roman","serif"">Over a median follow-up of 3.9 [1.9-8.9] years, the primary composite endpoint occurred in 35 patients, of whom 12 had received a heart transplant and 15 died. In the multivariate analysis, adjusted for a family history of SCD, atrial fibrillation, NYHA NT-proBNP and LVEF, a positive genotype was associated with a higher risk of the primary endpoint (HR 5.94 per mutation; 95% CI 1.40-25.21; p=0.016). Moreover, a significantly higher event rate was observed in double-mutation carriers (log rank p=0.007) <strong>(<span style="color:#0070c0">central figure</span></strong><strong>).</strong></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:"Times New Roman","serif""><strong>Conclusion:</strong> In a contemporary cohort of HCM, approximately 1 in every 25 patients had double gene mutations, whom presented with a more severe phenotype and worse clinical outcomes. Whether double mutations should be used for individualized risk stratification and to guide management decisions should be further investigated in larger cohort studies.</span></span></p>
Slides
Our mission: To reduce the burden of cardiovascular disease
Visit our site