Publications by authors named "Marina Navarro Penalver"
Background: Disease penetrance in genotype-positive (G+) relatives of families with dilated cardiomyopathy (DCM) and the characteristics associated with DCM onset in these individuals are unknown.
Objectives: This study sought to determine the penetrance of new DCM diagnosis in G+ relatives and to identify factors associated with DCM development.
Methods: The authors evaluated 779 G+ patients (age 35.
Background: Variants in are reported in 2% to 6% of familial cases of dilated cardiomyopathy and may be associated with fatal ventricular arrhythmia and rapid heart failure progression. We sought to determine the risk of adverse events in variant carriers and the impact of sex on outcomes.
Methods: Consecutive probands and relatives carrying variants were retrospectively recruited from 12 cardiomyopathy units.
Aims: Late gadolinium enhancement (LGE) is frequently found in patients with dilated cardiomyopathy (DCM); there is little information about its frequency and distribution pattern according to the underlying genetic substrate. We sought to describe LGE patterns according to genotypes and to analyse the risk of major ventricular arrhythmias (MVA) according to patterns.
Methods And Results: Cardiac magnetic resonance findings and LGE distribution according to genetics were performed in a cohort of 600 DCM patients followed at 20 Spanish centres.
Background: Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described.
Objectives: We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression.
Importance: Truncating variants in the gene encoding filamin C (FLNCtv) are associated with arrhythmogenic and dilated cardiomyopathies with a reportedly high risk of ventricular arrhythmia.
Objective: To determine the frequency of and risk factors associated with adverse events among FLNCtv carriers compared with individuals carrying TTN truncating variants (TTNtv).
Design, Setting, And Participants: This cohort study recruited 167 consecutive FLNCtv carriers and a control cohort of 244 patients with TTNtv matched for left ventricular ejection fraction (LVEF) from 19 European cardiomyopathy referral units between 1990 and 2018.
Inherited cardiovascular diseases are an important cause of sudden cardiac death (SD). The use of risk scores identify high risk patients who would benefit from an implantable cardioverter-defibrillators (ICDs). The development of automated devices for out-of-hospital cardiac arrest improves early resuscitation.
View Article and Find Full Text PDFIntroduction And Objectives: Study of inherited heart diseases (IHD) involves performing diagnostic tests, which are sometimes inconvenient or stressful, in asymptomatic relatives. The aim of this study was to analyze refusal to undergo various diagnostic tests and follow therapeutic recommendations.
Methods: We assessed 1992 consecutive families with IHD to analyze refusal to undergo family screening.
Article Synopsis
- Cancer therapy-induced cardiomyopathy (CCM) is a condition characterized by left ventricular dysfunction and heart failure, commonly influenced by specific cancer drugs and individual patient factors.
- Factors such as pre-existing heart disease, toxic substance abuse, age, and genetic predispositions affect how patients respond to cardiac injury from therapy.
- The study highlights the connection between genetic mutations related to cardiomyopathies and cancer, suggesting that certain genetic variants may increase both heart disease risk and susceptibility to specific cancers.
Autonomic regulation plays a role in the progression of heart failure with reduced ejection fraction (HrEF).Twenty-one HFrEF patients, 60.8 ± 13.
View Article and Find Full Text PDFBackground: Testosterone deficiency is associated with heart failure (HF) progression and poor prognosis. Testosterone therapy has been shown to improve exercise capacity in patients with chronic HF, but no trial has evaluated the impact of replacement in patients with demonstrated testosterone deficiency.
Methods: Prospective, randomized, double-blind, placebo-controlled, and parallel-group trial comparing testosterone replacement with placebo in males with chronic HF with reduced ejection fraction (HFrEF) and testosterone deficiency (NCT01813201).
Article Synopsis
- TBX1 is a protein that helps the heart develop during pregnancy but may also play a role in heart changes after a heart attack (AMI).
- In a study with rats, researchers found that TBX1 levels increased after a heart attack and that TBX1 was linked to increased heart damage after the attack.
- The medication eplerenone helped lower TBX1 levels and made the heart function better after a heart attack.
Background: Beta-trace protein (BTP) and cystatin C (CysC) are novel biomarkers of renal function. We assessed the ability of both to predict major bleeding (MB) in patients with non-ST-segment elevation acute coronary syndromes (NSTE-ACS), compared to other renal function parameters and clinical risk scores.
Methods And Results: We included 273 patients.