Publications by authors named "Jose Maria Lopez-Ayala"

12 Publications

  • Page 1 of 1

Electrocardiographic Screening of Arrhythmogenic Cardiomyopathy in Genotype-Positive and Phenotype-Negative Relatives.

Front Cardiovasc Med 2021 7;8:646391. Epub 2021 May 7.

Department of Cardiology, Virgen de la Arrixaca University Hospital, Murcia, Spain.

Arrhythmogenic cardiomyopathy is a hereditary cause of ventricular arrhythmias and sudden death. Identifying the healthy genetic carriers who will develop the disease remains a challenge. A novel approach to the analysis of the digital electrocardiograms of mutation carriers through signal processing may identify early electrocardiographic abnormalities. A retrospective case-control study included a population of healthy genetics carriers and their wild-type relatives. Genotype-positive/phenotype-negative individuals bore mutations associated with the development of arrhythmogenic cardiomyopathy. The relatives included had a non-pathological 12-lead electrocardiogram, echocardiogram, and a cardiac magnetic resonance. Automatic digital electrocardiographic analyses comprised QRS and terminal activation delay duration, the number of QRS fragmentations, ST slope, and T-wave voltage. Digital 12-lead electrocardiograms from 41 genotype-positive/ phenotype-negative (29 simple carriers and 12 double mutation carriers) and 73 wild-type relatives were analyzed. No differences in the QRS length, the number of QRS fragmentations, and the voltage of the T-wave were observed. After adjusting for potential confounders, double carriers showed an average ST-slope flatter than those of the simple carriers and wild type [5.18° (0.73-8.01), 7.15° (5.14-11.05), and 11.46° (3.94-17.49), respectively, = 0.005]. There was a significant negative correlation between the ST slope and the age in genotype-positive/phenotype-negative relatives ( = 0.376, = 0.021) not observed in their wild-type counterparts ( = 0.074, = 0.570). A flattened ST segment may be an early sign of electrical remodeling that precedes T-wave inversion in healthy genetic carriers. A thorough analysis of the digital electrocardiographic signal may help identify and measure early electrical abnormalities.
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http://dx.doi.org/10.3389/fcvm.2021.646391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8137826PMC
May 2021

COVID-19 Infection Is a Diagnostic Challenge in Infants With Ileocecal Intussusception.

Pediatr Emerg Care 2020 06;36(6):e368

Department of Pediatric Surgery Department of Pediatric Radiology Department of Pediatric Surgery Department of Medicine.

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http://dx.doi.org/10.1097/PEC.0000000000002155DOI Listing
June 2020

Factors Influencing the Phenotypic Expression of Hypertrophic Cardiomyopathy in Genetic Carriers.

Rev Esp Cardiol (Engl Ed) 2018 Mar 4;71(3):146-154. Epub 2017 Jul 4.

Unidad de Cardiopatías Hereditarias, Instituto Médico de Investigación Biosanitaria (IMIB-Arrixaca), Hospital Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain; Departamento de Medicina Interna, Universidad de Murcia, Murcia, Spain; Servicio de Cardiología, Hospital Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain.

Introduction And Objectives: Hypertrophic cardiomyopathy (HCM) is a disorder with variable expression. It is mainly caused by mutations in sarcomeric genes but the phenotype could be modulated by other factors. The aim of this study was to determine whether factors such as sex, systemic hypertension, or physical activity are modifiers of disease severity and to establish their role in age-related penetrance of HCM.

Methods: We evaluated 272 individuals (mean age 49 ± 17 years, 57% males) from 72 families with causative mutations. The relationship between sex, hypertension, physical activity, and left ventricular hypertrophy was studied.

Results: The proportion of affected individuals increased with age. Men developed the disease 12.5 years earlier than women (adjusted median, 95%CI, -17.52 to -6.48; P < .001). Hypertensive patients were diagnosed with HCM later (10.8 years of delay) than normotensive patients (adjusted median, 95%CI, 6.28-17.09; P < .001). Individuals who performed physical activity were diagnosed with HCM significantly earlier (7.3 years, adjusted median, 95%CI, -14.49 to -1.51; P = .016). Sex, hypertension, and the degree of physical activity were not significantly associated with the severity of left ventricular hypertrophy. Adjusted survival both free from sudden death and from the combined event were not influenced by any of the exploratory variables.

Conclusions: Men and athletes who are carriers of sarcomeric mutations are diagnosed earlier than women and sedentary individuals. Hypertensive carriers of sarcomeric mutations have a delayed diagnosis. Sex, hypertension, and physical activity are not associated with disease severity in carriers of HCM causative mutations.
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http://dx.doi.org/10.1016/j.rec.2017.06.002DOI Listing
March 2018

Acute Myocardial Infarction Masked by Brugada Syndrome: A Case Report.

Ann Intern Med 2017 Mar;166(6):449-450

From Los Arcos del Mar Menor University Hospital, Murcia, Spain; Virgen de la Arrixaca University Hospital, Murcia, Spain; and Imperial College London, Hammersmith Hospital, London, United Kingdom.

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http://dx.doi.org/10.7326/L16-0455DOI Listing
March 2017

Global longitudinal strain is associated with heart failure outcomes in hypertrophic cardiomyopathy.

Heart 2016 05 8;102(10):741-7. Epub 2016 Feb 8.

Inherited Cardiac Disease Unit, The Heart Hospital; Institute of Cardiovascular Science, University College London, London, UK.

Objective: We hypothesised that abnormal global longitudinal strain (GLS) would predict outcome in hypertrophic cardiomyopathy (HCM) better than current echocardiographic measures.

Methods: Retrospective analysis of risk markers in relation to outcomes in 472 patients with HCM at a single tertiary institution (2006-2012). Exclusion criteria were left ventricular (LV) hypertrophy of other origin, patients in atrial fibrillation, lost to follow-up and insufficient image quality to perform strain analysis. Standardised echocardiogram recordings were reviewed and standard variables and LV GLS were measured. The primary end-point included all cardiac deaths, appropriate defibrillator shocks and heart failure (HF) admissions. The secondary end-point was death by HF and admissions related to HF.

Results: Mean age was 50.0±15.0 years; 322 (68%) were men. At a median of 4.3 years (IQR 0.1-7.8) follow-up, 21 (4.4%) patients experienced cardiovascular death: 6 (1.3%) died from HF, 13 (2.7%) had sudden cardiac death and 2 (0.4%) died secondary to stroke. Four (0.8%) patients experienced appropriate defibrillator shock, and 13 (2.7%) were admitted for HF. On multivariate Fine-Gray proportional hazard analyses, GLS was significantly associated with the primary end-point (HR=0.90, 95% CI 0.83 to 0.98, p=0.018) independently of age, maximal provoked LV outflow-tract gradient and LV end-systolic volume. Moreover, GLS was particularly associated with the secondary end-point (HR=0.82, 95% CI 0.75 to 0.90, p<0.0001) independently of age, previous atrial fibrillation, New York Heart Association (NYHA) class III-IV, LV end-systolic volume, E/E', and outflow-tract gradient. Survival curves confirmed that GLS was associated with HF events (GLS <15.6%, p=0.0035).

Conclusions: In patients with HCM, reduced GLS is an independent factor associated with poor cardiac outcomes, and particularly HF outcomes.
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http://dx.doi.org/10.1136/heartjnl-2015-308576DOI Listing
May 2016

Coronary vasospasm after dobutamine stress echocardiogram triggered by esmolol.

Int J Cardiol 2015 Aug 1;193:17-9. Epub 2015 May 1.

Echo lab., Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain.

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http://dx.doi.org/10.1016/j.ijcard.2015.04.272DOI Listing
August 2015

Arrhythmogenic right ventricular cardiomyopathy.

Lancet 2015 Feb;385(9968):662

Department of Cardiology, Virgen de la Arrixaca University Hospital, Murcia, Spain; University of Murcia Medical School, Murcia, Spain. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(14)62461-2DOI Listing
February 2015

Phospholamban p.arg14del mutation in a Spanish family with arrhythmogenic cardiomyopathy: evidence for a European founder mutation.

Rev Esp Cardiol (Engl Ed) 2015 Apr 17;68(4):346-9. Epub 2015 Feb 17.

Servicio de Cardiología, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.rec.2014.11.012DOI Listing
April 2015

Genetics of myocarditis in arrhythmogenic right ventricular dysplasia.

Heart Rhythm 2015 Apr 20;12(4):766-73. Epub 2015 Jan 20.

University Hospital Virgen de la Arrixaca, Murcia, Spain; University of Murcia Medical School, Murcia, Spain. Electronic address:

Background: Myocarditis occasionally is related to arrhythmogenic right ventricular dysplasia (ARVD) and sometimes overlaps during the early stages, which may lead to misdiagnosis. Acute myocarditis may reflect an active phase of ARVD.

Objective: The purpose of this study was to evaluate the genetic basis of myocarditis in ARVD and to investigate the association with a poorer prognosis and a higher risk of ventricular arrhythmias.

Methods: Two groups were analyzed: group A, which consisted of 131 affected patients-84 with ARVD (62% male, age 45 years [range 33-55 years]) and 47 with left-sided forms (arrhythmogenic left ventricular dysplasia [ALVD]) (47% male, age 45 years [range 25-61 years]); and group B, which consisted of 64 nonaffected mutation-carrying relatives (36% male, age 42 years [range 22-56 years]; 23 from classic ARVD families and 41 from ALVD families).

Results: Seven patients (3.5%) presented with a clinical diagnosis of acute myocarditis over median follow-up of 34 months. Myocarditis was the first clinical presentation in 6 of 7 cases. In 2 patients, acute myocarditis preceded worsening of left ventricular systolic function. In 1 case, myocarditis was associated with an increased gadolinium pattern in cardiac magnetic resonance. Two patients presented with ECG changes weeks after myocarditis resolution. Myocarditis preceded the development of ventricular tachycardia in 2 other patients. Myocarditis clustered in families bearing DSP Q447* and LDB3 c.1051A>G.

Conclusion: Acute myocarditis reflects an active phase of ARVD that leads to changes in phenotype and abrupt progression of the disease. An active phase should be suspected in a patient with myocarditis associated with a family history of ARVD. Certain mutations may increase the susceptibility to superimposed myocarditis in ARVD.
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http://dx.doi.org/10.1016/j.hrthm.2015.01.001DOI Listing
April 2015

Author's reply: To PMID 24938629.

Europace 2015 Feb 13;17(2):334-7. Epub 2014 Nov 13.

Inherited Cardiac Disease Unit, Department of Cardiology, Virgen de la Arrixaca University Hospital, University of Murcia, Carretera Madrid-Cartagena, El Palmar, Murcia 30120, Spain

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http://dx.doi.org/10.1093/europace/euu285DOI Listing
February 2015

Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype.

Europace 2014 Dec 17;16(12):1838-46. Epub 2014 Jun 17.

Department of Cardiology, University of Murcia, Virgen de la Arrixaca University Hospital, Murcia, Spain

Aims: Risk stratification for sudden death in arrhythmogenic right ventricular cardiomyopathy (ARVC) is challenging in clinical practice. We lack recommendations for the risk stratification of exclusive left-sided phenotypes. The aim of this study was to investigate genotype-phenotype correlations in patients carrying a novel DSP c.1339C>T, and to review the literature on the clinical expression and the outcomes in patients with DSP truncating mutations.

Methods And Results: Genetic screening of the DSP gene was performed in 47 consecutive patients with a phenotype of either an ARVC (n = 24) or an idiopathic dilated cardiomyopathy (DCM), who presented with ventricular arrhythmias or a family history of sudden death (n = 23) (aged 40 ± 19 years, 62% males). Three unrelated probands with DCM were found to be carriers of a novel mutation (c.1339C>T). Cascade family screening led to the identification of 15 relatives who are carriers. Penetrance in c.1339C>T carriers was 83%. Sustained ventricular tachycardia was the first clinical manifestation in six patients and nine patients were diagnosed with left ventricular impairment (two had overt severe disease and seven had a mild dysfunction). Cardiac magnetic resonance revealed left ventricular involvement in nine cases and biventricular disease in three patients. Extensive fibrotic patterns in six and non-compaction phenotype in five patients were the hallmark in imaging.

Conclusion: DSP c.1339C>T is associated with an aggressive clinical phenotype of left-dominant arrhythmogenic cardiomyopathy and left ventricular non-compaction. Truncating mutations in desmoplakin are consistently associated with aggressive phenotypes and must be considered as a risk factor of sudden death. Since ventricular tachycardia occurs even in the absence of severe systolic dysfunction, an implantable cardioverter-defibrillator should be indicated promptly.
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http://dx.doi.org/10.1093/europace/euu128DOI Listing
December 2014

ECG after near-drowning mimicking acute coronary syndrome with left main coronary artery involvement.

World J Emerg Med 2013 ;4(1):75-6

Department of Cardiology, Hospital Virgen Arrixaca, Ctra, Murcia-Cartagena s/n, El Palmar (Murcia), 30120, Spain.

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http://dx.doi.org/10.5847/wjem.j.issn.1920-8642.2013.01.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129887PMC
September 2014
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