Juan Pablo Ochoa

Familial Brugada Syndrome Associated With a Complete Deletion of the SCN5A and SCN10A Genes

Brugada syndrome (BS) is a channelopathy with an associated risk of malignant ventricular arrhythmias and sudden death. The diagnosis is established based on the patient’s electrocardiography (ECG) pattern and clinical characteristics. The main treatment for BS is defibrillator implantation, although promising ablation techniques have been developed recently. In a large percentage of patients, the baseline ECG findings are normal or inconclusive, and a drug challenge is required to confirm the condition. This may also occur with members of the patients’ families, who can inherit the disease. Genetic study can identify the cause, confirm the diagnosis, and avoid unnecessary tests and follow-up in patients and their family members. The main gene implicated in BS is the sodium channel gene, SNC5A, but other genes may make a smaller contribution. For a genetic study to be considered complete, in addition to examining all these genes, copy number variations (CNV), such as large deletions or duplications, should be ruled out, as a small percentage of BS cases may be due to these variants. We present the case of a family with BS, whose genetic study by massive next-generation sequencing (NGS) enabled identification of the etiology. The proband, a 13-year-old boy, was hospitalized for palpitations after intense exercise. He had experienced no previous symptoms and was not receiving drug therapy. Before this event, he had undergone monitoring by the arrhythmia unit with yearly ECG testing because his father had been diagnosed with BS (showing a spontaneous type 1 ECG pattern and induced fibrillation on electrophysiology study) and was treated with defibrillator implantation. On admission, ECG testing showed an atrial flutter associated with a Brugada type 1 pattern (Figure A).

Differential diagnosis of thickened myocardium: an illustrative MRI review

ObjectivesThe purpose of this article is to describe the key cardiac magnetic resonance imaging (MRI) features to differentiate hypertrophic cardiomyopathy (HCM) phenotypes from other causes of myocardial thickening that may mimic them.ConclusionsMany causes of myocardial thickening may mimic different HCM phenotypes. The unique ability of cardiac MRI to facilitate tissue characterisation may help to establish the aetiology of myocardial thickening, which is essential to differentiate it from HCM phenotypes and for appropriate management.Teaching points• Many causes of myocardial thickening may mimic different HCM phenotypes.• Differential diagnosis between myocardial thickening aetiology and HCM phenotypes may be challenging.• Cardiac MRI is essential to differentiate the aetiology of myocardial thickening from HCM phenotypes.

Phenotypes of hypertrophic cardiomiopathy. An illustrative review of MRI findings

ObjectiveThe purpose of this article is to review how cardiac MRI provides the clinician with detailed information about the hypertrophic cardiomyopathy (HCM) phenotypes, assessing its morphological and functional consequences.ConclusionAn understanding of cardiac MRI manifestations of HCM phenotypes will aid early diagnosis recognition and its functional consequences.Teaching Points• The phenotypic variability of HCM expands beyond myocardial hypertrophy, to include morphological and functional manifestations, ranging from subtle anomalies to remodelling of the LV with progressive dilatation and thinning of its wall.• The stages of HCM, which are based on the clinical evidence of disease progression, include subclinical HCM, the classic HCM phenothype, adverse remodelling and overt dysfunction, or end-stage HCM.• Cardiac MRI provides the clinician with detailed information regarding the HCM phenotypes and enables the assessment of its functional consequences.

Effectiveness of the 2014 European Society of Cardiology guideline on sudden cardiac death in hypertrophic cardiomyopathy: a systematic review and meta-analysis

Objective In 2014, the European Society of Cardiology (ESC) recommended the use of a novel risk prediction model (HCM Risk-SCD) to guide use of implantable cardioverter defibrillators (ICD) for the primary prevention of sudden cardiac death (SCD) in patients with hypertrophic cardiomyopathy (HCM). We sought to determine the performance of HCM Risk-SCD by conducting a systematic review and meta-analysis of articles reporting on the prevalence of SCD within 5 years of evaluation in low, intermediate and high-risk patients as defined by the 2014 guidelines (predicted risk <4%, 4%–<6% and ≥6%, respectively). Methods The protocol was registered with PROSPERO (registration number: CRD42017064203). MEDLINE and manual searches for papers published from October 2014 to December 2017 were performed. Longitudinal, observational cohorts of unselected adult patients, without history of cardiac arrest were considered. The original HCM Risk-SCD development study was included a priori. Data were pooled using a random effects model. Results Six (0.9%) out of 653 independent publications identified by the initial search were included. The calculated 5-year risk of SCD was reported in 7291 individuals (70% low, 15% intermediate; 15% high risk) with 184 (2.5%) SCD endpoints within 5 years of baseline evaluation. Most SCD endpoints (68%) occurred in patients with an estimated 5-year risk of ≥4% who formed 30% of the total study cohort. Using the random effects method, the pooled prevalence of SCD endpoints was 1.01% (95% CI 0.52 to 1.61) in low-risk patients, 2.43% (95% CI 1.23 to 3.92) in intermediate and 8.4% (95% CI 6.68 to 10.25) in high-risk patients. Conclusions This meta-analysis demonstrates that HCM Risk-SCD provides accurate risk estimations that can be used to guide ICD therapy in accordance with the 2014 ESC guidelines. Registration number PROSPERO CRD42017064203;Pre-results.

Evaluación del haz espinotalámico mediante tractografía por resonancia magnética: nuevos aportes en la fisiopatología del dolor en pacientes con síndrome X

Introduccion El sindrome X se asocia con signos y sintomas de isquemia, sin obstruccion significativa de las arterias coronarias. En los pacientes con este sindrome existe un aumento en la percepcion de los estimulos cardiacos, aunque la causa de este trastorno se desconoce. Objetivo Explorar los tractos nerviosos sensitivos involucrados en la percepcion anormal del dolor en mujeres que sufren de sindrome X. Material y metodos Estudio prospectivo que incluyo 24 mujeres: 12 con sindrome X, 6 con enfermedad coronaria documentada y 6 controles sanas. Se realizo el mapeo del tracto espinotalamico lateral mediante tractografia por difusion. Se analizaron las caracteristicas anatomicas (lineas, voxels, longitud) y fisicas (anisotropia fraccional, coeficiente de difusion aparente, difusividad) de cada tracto. Resultados El haz espinotalamico lateral se pudo aislar en todas las pacientes evaluadas. No hubo diferencias en las caracteristicas fisicas de los tractos, pero existio una diferencia significativa en el numero de voxels de los tres grupos a expensas del grupo sindrome X (101,2 ± 46,9 vs. 83,2 ± 24 vs. 66 ± 16; p = 0,030), con una tendencia a presentar un numero mayor de lineas en cada tracto. Conclusiones Se hallaron diferencias en las caracteristicas anatomicas de los tractos de las pacientes con sindrome X respecto de los controles sanos y de las pacientes con enfermedad coronaria, con indemnidad en las caracteristicas fisicas de las fibras. Es probable que este estudio experimental sea el primero en demostrar que es posible evaluar in vivo los tractos neurologicos involucrados en la transmision del dolor en este grupo de pacientes, lo cual abre un nuevo campo de investigacion.

Diagnóstico y tratamiento paliativo endovascular de un angiosarcoma de arteria pulmonar

de guna y con doble tratamiento antiagregante (ácido acetilsalicı́lico clopidogrel). El cierre percutáneo de la OI se ofrece como una nueva ternativa para el tratamiento de pacientes con riesgo embolı́geno los que la anticoagulación plantea problemas de control tisfactorio o no es posible o deseable su utlización terapéutica, que el 90% de los trombos intracavitarios en pacientes con rilación auricular no reumática se encuentran en la OI. Por otro do, el cierre del FOP también es posible y se recomienda en uaciones con riesgo de embolia paradójica, al margen de las cientes discusiones e informes sobre su utilidad a largo plazo. Este caso muestra la posibilidad de efectuar el doble ocedimiento percutáneo en el mismo acto, incidiendo directaente en el foco embolı́geno de la orejuela y cerrando el FOP.