RESUMEN
Left ventricular non-compaction (LVNC) is a cardiomyopathy that may be of genetic origin; however, few data are available about the yield of mutation, the spectrum of genes and allelic variations. The aim of this study was to better characterize the genetic spectrum of isolated LVNC in a prospective cohort of 95 unrelated adult patients through the molecular investigation of 107 genes involved in cardiomyopathies and arrhythmias. Fifty-two pathogenic or probably pathogenic variants were identified in 40 patients (42%) including 31 patients (32.5%) with single variant and 9 patients with complex genotypes (9.5%). Mutated patients tended to have younger age at diagnosis than patients with no identified mutation. The most prevalent genes were TTN, then HCN4, MYH7, and RYR2. The distribution includes 13 genes previously reported in LVNC and 10 additional candidate genes. Our results show that LVNC is basically a genetic disease and support genetic counseling and cardiac screening in relatives. There is a large genetic heterogeneity, with predominant TTN null mutations and frequent complex genotypes. The gene spectrum is close to the one observed in dilated cardiomyopathy but with specific genes such as HCN4. We also identified new candidate genes that could be involved in this sub-phenotype of cardiomyopathy.
Asunto(s)
Cardiomiopatías/diagnóstico , Cardiomiopatías/genética , Estudios de Asociación Genética , Heterogeneidad Genética , Predisposición Genética a la Enfermedad , Secuenciación de Nucleótidos de Alto Rendimiento , Adulto , Alelos , Biomarcadores , Biología Computacional/métodos , Ecocardiografía , Femenino , Estudios de Asociación Genética/métodos , Variación Genética , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Mutación , Linaje , Fenotipo , Disfunción Ventricular Izquierda/diagnóstico , Disfunción Ventricular Izquierda/genéticaAsunto(s)
Endocarditis Bacteriana/diagnóstico por imagen , Prótesis Valvulares Cardíacas/efectos adversos , Imagen Multimodal/métodos , Infecciones Relacionadas con Prótesis/diagnóstico por imagen , Reemplazo de la Válvula Aórtica Transcatéter/efectos adversos , Anciano , Anciano de 80 o más Años , Ecocardiografía Doppler en Color , Ecocardiografía Transesofágica , Endocarditis Bacteriana/microbiología , Endocarditis Bacteriana/terapia , Humanos , Masculino , Persona de Mediana Edad , Tomografía Computarizada Multidetector , Tomografía Computarizada por Tomografía de Emisión de Positrones , Valor Predictivo de las Pruebas , Infecciones Relacionadas con Prótesis/microbiología , Infecciones Relacionadas con Prótesis/terapia , Reemplazo de la Válvula Aórtica Transcatéter/instrumentaciónRESUMEN
Aims: To evaluate the prognostic value of apical four-chamber (A4-C) longitudinal strain (LS) in patients with aortic stenosis (AS). Methods and results: In a multicentre cohort, 582 patients (74.3 ± 10.9 years) with moderate or severe AS and preserved left ventricular (LV) ejection fraction (≥50%) were included in this retrospective study. Patients with severe AS were classified in four subgroups according to flow and gradient: low flow (LF) was defined as a stroke volume index <35 mL/m2 compared with normal flow (NF); low-gradient (LG) as a mean gradient <40 mmHg compared with high gradient (HG). The end point was all-cause of mortality. A4-C LS was measured by two-dimensional speckle tracking and was feasible in all patients. The degree of A4-C LV longitudinal dysfunction increased according to the severity and subgroups of severe AS: from the least to the most impaired: moderate AS, NF/HG, NF/LG, LF/HG, and LF/LG AS (P < 0.001). During a mean follow-up of 2.6 ± 0.2 years, 58(10%) patients died. The 2-year survival was 76.8% in patients with LF/LG vs. 89.3% in patients with other groups. The best threshold of A4-C LS associated with overall mortality was an absolute cut-off value of |13.75%|. According to this cut-off, the 2-year survival was higher both in patients with moderate AS (96.3 vs. 70%, P = 0.02) and those with severe AS (92.9 vs. 80.9%, P = 0.005). However when dichotomized according to flow/gradient patterns, the association was only statistically significant in the subgroup of patients with NF/HG. By multivariable cox regression analysis, A4-C LS <|13.75| remained independently associated with overall mortality (hazard ratio: 1.8; P = 0.045). Conclusion: A4-C LS is independently associated with death in patients with AS and preserved LVEF, however the flow/gradient pattern should also be considered as an important parameter. The management of these patients may use A4-C LS as a new parameter of evaluation of LV function and prognosis.
Asunto(s)
Estenosis de la Válvula Aórtica/mortalidad , Estenosis de la Válvula Aórtica/cirugía , Causas de Muerte , Ecocardiografía/métodos , Volumen Sistólico/fisiología , Función Ventricular Izquierda/fisiología , Anciano , Anciano de 80 o más Años , Estenosis de la Válvula Aórtica/diagnóstico por imagen , Estudios de Cohortes , Bases de Datos Factuales , Femenino , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Análisis Multivariante , Pronóstico , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Análisis de SupervivenciaRESUMEN
OBJECTIVE: Acute coronary syndromes (ACS) are a rare complication of infective endocarditis (IE). Only case reports and small studies have been published to date. We report the largest series of ACS in IE. The aim of our study was to describe the incidence and mechanisms of ACS associated with IE, to assess their prognostic impact and to describe their management. METHODS: In a bicentre prospective observational cohort study, all patients with a definite diagnosis of IE were prospectively included. The incidence, mechanism and prognosis of patients with ACS were studied. RESULTS: Among 1210 consecutive patients with definite IE, 26 patients (2.2%) developed an ACS. Twenty-three patients (88%) had a coronary embolism. Two patients had coronary compression by an abscess or a pseudoaneurysm and one patient had an obstruction of his bioprosthesis and left coronary ostium by a large vegetation. Nineteen (73%) patients with ACS developed heart failure and this complication was 2.5 times more frequent than in patients without ACS (p<0.0001). In the ACS population, mortality rate was twice than the population without ACS. CONCLUSIONS: ACS is a rare complication of IE but is associated with an increased risk of heart failure and high mortality rate.
