Martín F. Ortiz
University of A Coruña
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Featured researches published by Martín F. Ortiz.
Heart | 2010
M José Oliva-Sandoval; Francisco Ruiz-Espejo; Lorenzo Monserrat; Manuel Hermida-Prieto; María Sabater; Esperanza García-Molina; Martín F. Ortiz; M Isabel Rodríguez-García; Lucía Núñez; Juan R. Gimeno; Alfonso Castro-Beiras; Mariano Valdés
Background Mutations in the cardiac myosin-binding protein C (MYBPC3) gene are frequently found as a cause of hypertrophic cardiomyopathy (HCM). However, only a few studies have analysed genotype–phenotype correlations in small series of patients. The present study sought to determine the clinical characteristics, penetrance and prognosis of HCM with an identical mutation in MYBPC3. Methods 154 non-related patients with HCM (aged 55±16 years, 100 (64.9%) males) were studied. 18 (11.7%) were found to have an identical mutation in the MYBPC3 gene (IVS23+1G→A). Pedigree analysis, including both clinical evaluation and genotyping, was performed. Results 152 individuals (mean age 37±18 years, 53.3% males) from 18 families were evaluated. 65 carriers of the IVS23+1G→A mutation were identified, 61.5% of whom met HCM diagnostic criteria. Penetrance of the disease increased with age, with 50% affected at 46 years of age. Males tended to develop the disease earlier than females. 7 (15.6%) had systolic dysfunction. Compared with the rest of the HCM cohort, probands with the mutation had more hypertrophy and were younger at diagnosis. There was a trend towards a reduced survival free from sudden death (SD) (HR 1.71; 95% CI 0.98 to 2.98, p=0.059). There were 17 SD cases in 12 families with the mutation. Conclusions The MYBPC3 IVS23+1G→A mutation is associated with middle-age onset disease and poor outcome, with a significant proportion of patients developing systolic impairment and a high SD risk profile.
International Journal of Cardiology | 2010
Tomás Ripoll Vera; Lorenzo Monserrat Iglesias; Manuel Hermida Prieto; Martín F. Ortiz; Isabel Rodríguez García; Nancy Govea Callizo; Carlos Gómez Navarro; Jordi Rosell Andreo; Jose María Gámez Martínez; Guillermo Pons Lladó; David Cremer Luengos; Joan Torres Marqués
BACKGROUND The R820W mutation in the MYBPC3 gene has been associated with the development of hypertrophic cardiomyopathy (HCM) in rag-doll cats, but had not been described in humans. AIMS To describe the phenotype associated with the R820W mutation identified in a human family. METHODS The R820W was identified by direct sequencing of the MYBPC3 gene in a 47 year old woman with HCM and left ventricular non-compaction (LVNC). Clinical and genetic studies of the R820W mutation were performed in her family. RESULTS The index patient was homozygous for the mutation and had no additional mutations in the main sarcomeric genes (MYH7, TNNT2, TNNI3, and TPM1). She had HCM with LVNC and normal systolic function. One brother had died suddenly at age 43 years. Another brother diagnosed of LVNC with severe systolic dysfunction and a cardiac arrest was also homozygous for the mutation. One heterozygous 31 year old sister, and three heterozygous sons of the index (ages 14, 20 and 23 years old) were clinically unaffected. The father of the index was apparently healthy and her mother had atrial fibrillation and an electrocardiographic diagnosis of left ventricular hypertrophy at age 86 years. CONCLUSION The R820W mutation in the MYBPC3 gene, previously associated with HCM in rag-doll cats, causes both HCM and LVNC in homozygous human carriers, with mild or null clinical expression in heterozygous carriers.
BMC Medical Genetics | 2010
María Isabel Rodríguez-García; Lorenzo Monserrat; Martín F. Ortiz; Xusto Fernández; Laura Cazón; Lucía Núñez; Roberto Barriales-Villa; Emilia Maneiro; Elena Veira; Alfonso Castro-Beiras; Manuel Hermida-Prieto
BackgroundMyBPC3 mutations are amongst the most frequent causes of hypertrophic cardiomyopathy, however, its prevalence varies between populations. They have been associated with mild and late onset disease expression. Our objectives were to establish the prevalence of MyBPC3 mutations and determine their associated clinical characteristics in our patients.MethodsScreening by Single Strand Conformation Polymorphisms (SSCP) and sequencing of the fragments with abnormal motility of the MyBPC3 gene in 130 unrelated consecutive HCM index cases. Genotype-Phenotype correlation studies were done in positive families.Results16 mutations were found in 20 index cases (15%): 5 novel [D75N, V471E, Q327fs, IVS6+5G>A (homozygous), and IVS11-9G>A] and 11 previously described [A216T, R495W, R502Q (2 families), E542Q (3 families), T957S, R1022P (2 families), E1179K, K504del, K600fs, P955fs and IVS29+5G>A]. Maximum wall thickness and age at time of diagnosis were similar to patients with MYH7 mutations [25(7) vs. 27(8), p = 0.16], [46(16) vs. 44(19), p = 0.9].ConclusionsMutations in MyBPC3 are present in 15% of our hypertrophic cardiomyopathy families. Severe hypertrophy and early expression are compatible with the presence of MyBPC3 mutations. The genetic diagnosis not only allows avoiding clinical follow up of non carriers but it opens new possibilities that includes: to take preventive clinical decisions in mutation carriers than have not developed the disease yet, the establishment of genotype-phenotype relationship, and to establish a genetic diagnosis routine in patients with familial HCM.
Europace | 2014
José María López-Ayala; Ivan Gómez-Milanés; Juan José Sánchez Muñoz; Francisco Ruiz-Espejo; Martín F. Ortiz; Josefa González-Carrillo; David López-Cuenca; María José Oliva-Sandoval; Lorenzo Monserrat; Mariano Valdés; Juan R. Gimeno
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.
European Heart Journal | 2011
Lorenzo Monserrat; Begoña López; Arantxa González; Manuel Hermida; Xusto Fernández; Martín F. Ortiz; Roberto Barriales-Villa; Alfonso Castro-Beiras; Javier Díez
Aims Cardiotrophin-1 (CT-1) is a cytokine that induces hypertrophy in cardiomyocytes and is associated with left ventricular hypertrophy (LVH) in hypertensive patients. The objective of this study was to evaluate whether plasma CT-1 is associated with hypertrophic cardiomyopathy (HCM). Methods and results The study was performed in 124 patients with HCM. All patients underwent a full clinical evaluation and an echocardiogram. Left ventricular hypertrophy was evaluated by the measurement of the maximal LV wall thickness and the Spiritos LVH score. Plasma CT-1 was measured by an enzyme-linked immunosorbent assay. Compared with controls, patients with HCM exhibited higher (P < 0.001) plasma CT-1 levels. Significant correlations were found between CT-1 and maximal LV wall thickness (r = 0.284, P = 0.001) and the Spiritos LVH score (r = 0.287, P = 0.006) in HCM patients. In addition, the levels of CT-1 were higher (P = 0.02) in patients with severe LVH (maximal LV wall thickness ≥30 mm) than in patients with mild or moderate LVH (maximal LV wall thickness <30 mm). Conclusions These findings show that plasma CT-1 is associated with the severity of LVH in patients with HCM. Further studies are required to ascertain whether CT-1 is a diagnostic biomarker of this cardiomyopathy.
Revista Espanola De Cardiologia | 2009
Martín F. Ortiz; María Isabel Rodríguez-García; Manuel Hermida-Prieto; Xusto Fernández; Elena Veira; Roberto Barriales-Villa; Alfonso Castro-Beiras; Lorenzo Monserrat
El estudio genetico puede resultar una pieza clave en la evaluacion integral de la miocardiopatia hipertrofica familiar y en el desarrollo de una medicina individualizada. Hay pocos casos descritos, pero existe un grupo de pacientes con genotipos complejos asociados a manifestacion severa de la enfermedad y alto riesgo de muerte subita. Presentamos una familia caracterizada por evolucion precoz a disfuncion sistolica y diastolica en algunos de sus integrantes y muerte subita a edades tempranas en otros. Se detecto una mutacion en homocigosis (IVS6+5G>A) en el gen de la proteina C de union a la miosina, no descrita previamente, que nos permitio explicar el fenotipo de los afectados, estimar el riesgo en otros familiares y ofrecer consejo genetico.
Revista Espanola De Cardiologia | 2009
Martín F. Ortiz; María Isabel Rodríguez-García; Manuel Hermida-Prieto; Xusto Fernández; Elena Veira; Roberto Barriales-Villa; Alfonso Castro-Beiras; Lorenzo Monserrat
Genetic studies can play a key role in the comprehensive evaluation of familiar hypertrophic cardiomyopathy and in the development of individualized medicine. Although only a few cases have been described, there exists a group of patients with complex genotypes that are associated with severe disease manifestations and a high risk of sudden death. We describe a family in which some members experienced the early development of systolic and diastolic dysfunction while others experienced sudden death at a young age. We identified a novel homozygous mutation (IVS6+5G>A) in the myosin-binding protein-C gene that explained the phenotype of affected individuals and that enabled us to estimate the risk in other family members and to offer genetic counseling.
Revista Espanola De Cardiologia | 2010
Roberto Barriales-Villa; Raúl Centurión-Inda; Xusto Fernández-Fernández; Martín F. Ortiz; Luisa Pérez-Álvarez; Isabel Rodríguez García; Manuel Hermida-Prieto; Lorenzo Monserrat
The aims of this study were to determine the prevalence of severe cardiac conduction disturbances in a cohort of 451 patients with hypertrophic cardiomyopathy and to describe the characteristics of, and outcomes in, those who required a permanent pacemaker. A pacemaker was implanted in 48 patients (11%): 20 had sinus node dysfunction and 28 had an atrioventricular conduction disturbance. Primary bradyarrhythmia (which was not related to iatrogenic atrioventricular block or therapeutic ablation of the atrioventricular node) was the reason for permanent pacemaker implantation in 36 patients (8%). In 18% of cases, at least one other family member had a permanent pacemaker. In this patient series, a high prevalence of severe cardiac conduction disturbance leading to permanent pacemaker implantation was observed. Severe cardiac conduction disturbance in hypertrophic cardiomyopathy may also have a familial component.
Revista Espanola De Cardiologia | 2010
Roberto Barriales-Villa; Raúl Centurión-Inda; Xusto Fernández-Fernández; Martín F. Ortiz; Luisa Pérez-Álvarez; Isabel Rodríguez García; Manuel Hermida-Prieto; Lorenzo Monserrat
The aims of this study were to determine the prevalence of severe cardiac conduction disturbances in a cohort of 451 patients with hypertrophic cardiomyopathy and to describe the characteristics of, and outcomes in, those who required a permanent pacemaker. A pacemaker was implanted in 48 patients (11%): 20 had sinus node dysfunction and 28 had an atrioventricular conduction disturbance. Primary bradyarrhythmia (which was not related to iatrogenic atrioventricular block or therapeutic ablation of the atrioventricular node) was the reason for permanent pacemaker implantation in 36 patients (8%). In 18% of cases, at least one other family member had a permanent pacemaker. In this patient series, a high prevalence of severe cardiac conduction disturbance leading to permanent pacemaker implantation was observed. Severe cardiac conduction disturbance in hypertrophic cardiomyopathy may also have a familial component.
Journal of the American College of Cardiology | 2018
Andrea Mazzanti; Riccardo Maragna; Gaetano Vacanti; Nicola Monteforte; Raffaella Bloise; Maira Marino; Lorenzo Braghieri; Patrick Gambelli; Mirella Memmi; Eleonora Pagan; Massimo Morini; Alberto Malovini; Martín F. Ortiz; Luciana Sacilotto; Riccardo Bellazzi; Lorenzo Monserrat; Carlo Napolitano; Vincenzo Bagnardi; Silvia G. Priori