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1.
Artículo en Inglés | MEDLINE | ID: mdl-28188661

RESUMEN

Idiopathic epicardial ventricular tachycardias (VTs) account for 9% of idiopathic VTs. The recognition of this entity is important, as a minimally invasive ablation procedure performed exclusively through the coronary sinus branches may be considered, avoiding the potential risks associated with access to the left ventricular endocardium, the aortic root, and the pericardial space. The electrocardiographic features and therapeutic management of this rare form of tachycardia are discussed.


Asunto(s)
Ablación por Catéter/métodos , Electrocardiografía/métodos , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/fisiopatología , Taquicardia Ventricular/cirugía , Humanos , Masculino , Persona de Mediana Edad , Pericardio/fisiopatología
2.
Nat Genet ; 54(3): 232-239, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-35210625

RESUMEN

Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1.5, susceptibility genes remain largely unknown. Here we performed a genome-wide association meta-analysis comprising 2,820 unrelated cases with BrS and 10,001 controls, and identified 21 association signals at 12 loci (10 new). Single nucleotide polymorphism (SNP)-heritability estimates indicate a strong polygenic influence. Polygenic risk score analyses based on the 21 susceptibility variants demonstrate varying cumulative contribution of common risk alleles among different patient subgroups, as well as genetic associations with cardiac electrical traits and disorders in the general population. The predominance of cardiac transcription factor loci indicates that transcriptional regulation is a key feature of BrS pathogenesis. Furthermore, functional studies conducted on MAPRE2, encoding the microtubule plus-end binding protein EB2, point to microtubule-related trafficking effects on NaV1.5 expression as a new underlying molecular mechanism. Taken together, these findings broaden our understanding of the genetic architecture of BrS and provide new insights into its molecular underpinnings.


Asunto(s)
Síndrome de Brugada , Alelos , Síndrome de Brugada/complicaciones , Síndrome de Brugada/genética , Síndrome de Brugada/metabolismo , Susceptibilidad a Enfermedades/complicaciones , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Humanos , Proteínas Asociadas a Microtúbulos/genética , Mutación , Canal de Sodio Activado por Voltaje NAV1.5/genética , Canal de Sodio Activado por Voltaje NAV1.5/metabolismo , Adulto Joven
4.
PLoS One ; 11(7): e0158522, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27400273

RESUMEN

OBJECTIVES: Symptomatic neurological complications (NC) are a major cause of mortality in infective endocarditis (IE) but the impact of asymptomatic complications is unknown. We aimed to assess the impact of asymptomatic NC (AsNC) on the management and prognosis of IE. METHODS: From the database of cases collected for a population-based study on IE, we selected 283 patients with definite left-sided IE who had undergone at least one neuroimaging procedure (cerebral CT scan and/or MRI) performed as part of initial evaluation. RESULTS: Among those 283 patients, 100 had symptomatic neurological complications (SNC) prior to the investigation, 35 had an asymptomatic neurological complications (AsNC), and 148 had a normal cerebral imaging (NoNC). The rate of valve surgery was 43% in the 100 patients with SNC, 77% in the 35 with AsNC, and 54% in the 148 with NoNC (p<0.001). In-hospital mortality was 42% in patients with SNC, 8.6% in patients with AsNC, and 16.9% in patients with NoNC (p<0.001). Among the 135 patients with NC, 95 had an indication for valve surgery (71%), which was performed in 70 of them (mortality 20%) and not performed in 25 (mortality 68%). In a multivariate adjusted analysis of the 135 patients with NC, age, renal failure, septic shock, and IE caused by S. aureus were independently associated with in-hospital and 1-year mortality. In addition SNC was an independent predictor of 1-year mortality. CONCLUSIONS: The presence of NC was associated with a poorer prognosis when symptomatic. Patients with AsNC had the highest rate of valve surgery and the lowest mortality rate, which suggests a protective role of surgery guided by systematic neuroimaging results.


Asunto(s)
Enfermedades Asintomáticas , Endocarditis/diagnóstico , Endocarditis/cirugía , Enfermedades del Sistema Nervioso/complicaciones , Endocarditis/complicaciones , Endocarditis/mortalidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pronóstico
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