Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype-phenotype correlation.

AIMS: Late gadolinium enhancement (LGE) is frequently found in patients with dilated cardiomyopathy (DCM); there is little information about its frequency and distribution pattern according to the underlying genetic substrate. We sought to describe LGE patterns according to genotypes and to analyse the risk of major ventricular arrhythmias (MVA) according to patterns. METHODS AND RESULTS: Cardiac magnetic resonance findings and LGE distribution according to genetics were performed in a cohort of 600 DCM patients followed at 20 Spanish centres. After exclusion of individuals with multiple causative gene variants or with variants in infrequent DCM-causing genes, 577 patients (34% females, mean age 53.5 years, left ventricular ejection fraction 36.9 ± 13.9%) conformed to the final cohort. A causative genetic variant was identified in 219 (38%) patients, and 147 (25.5%) had LGE. Significant differences were found comparing LGE patterns between genes (P < 0.001). LGE was absent or rare in patients with variants in TNNT2, RBM20, and MYH7 (0, 5, and 20%, respectively). Patients with variants in DMD, DSP, and FLNC showed a predominance of LGE subepicardial patterns (50, 41, and 18%, respectively), whereas patients with variants in TTN, BAG3, LMNA, and MYBPC3 showed unspecific LGE patterns. The genetic yield differed according to LGE patterns. Patients with subepicardial, lineal midwall, transmural, and right ventricular insertion points or with combinations of LGE patterns showed an increased risk of MVA compared with patients without LGE. CONCLUSION: LGE patterns in DCM have a specific distribution according to the affected gene. Certain LGE patterns are associated with an increased risk of MVA and with an increased yield of genetic testing.

Modelo de intervención coronaria percutánea primaria en la Comunidad de Navarra / The primary percutaneous coronary intervention program in Navarre

El tratamiento del infarto agudo de miocardio ha evolucionado notablemente en las últimas tres décadas. Actualmente están establecidas con total nitidez las ventajas del tratamiento de reperfusión en cuanto a reducción de la morbimortalidad en una enfermedad tan prevalente en los países desarrollados. Si las diferentes opciones de reperfusión, farmacológica o mecánica, se aplican y especialmente si es precozmente desde el inicio de los síntomas, la mortalidad del infarto de miocardio puede ser inferior al 5%, cifra impensable hace tan sólo unos años. La intervención coronaria percutánea primaria es el método de reperfusión ideal. Sin embargo, desde una visión comunitaria y a la vista de la extensión del territorio y los tiempos de acceso desde el inicio de los síntomas al contacto con el sistema sanitario, así como al centro intervencionista, la reperfusión farmacológica y el traslado simultáneo para realizar intervención coronaria percutánea de rescate, si procediera, pueden ser una opción complementaria, con resultados no inferiores a los de la intervención coronaria percutánea primaria, en caso de que se la considerara como única opción. Navarra es una comunidad relativamente extensa (10.391 km2 ), con tres centros hospitalarios públicos: un centro con unidad coronaria y cardiología intervencionista, en el Complejo Hospitalario de Navarra en Pamplona, y dos hospitales comarcales, Estella y Tudela, ubicados a 50 y 90 km del centro intervencionista. Estratégicamente, el objetivo es reperfundir al mayor número de pacientes que presenten un infarto de miocardio con elevación del ST. Si es en el área de Pamplona-Pamplona Norte, siempre intervención coronaria percutánea primaria; si es en los dependientes de los hospitales comarcales de Estella y Tudela, estrategia invasiva o farmacoinvasiva en función de la suma de tiempos desde el inicio de los síntomas hasta el contacto con el sistema sanitario, más el tiempo teórico de traslado al centro intervencionista de Pamplona. Este tipo de estrategia combinada, con protocolos bien definidos, en una comunidad como la de Navarra, con peculiaridades urbanas y rurales, se muestra muy eficiente y su modelo, dentro de las dificultades, es de aplicación sencilla (AU)

The treatment of acute myocardial infarction has advanced considerably over the last three decades. Today, the benefits of reperfusion therapy are abundantly clear: it can reduce morbidity and mortality in a disease that has a very high prevalence in developed countries. If the various reperfusion treatments are used early after symptom onset, mortality due to myocardial infarction may be less than 5%, a level that was unthinkable just a few years ago. Primary percutaneous coronary intervention is the ideal reperfusion method. However, for the community as a whole in a region where distances are large and there may be a lengthy delay between symptom onset and hospital admission, pharmacological reperfusion with simultaneous transport for rescue percutaneous coronary intervention, if warranted, may be an alternative, and outcomes are not inferior to those of primary percutaneous coronary intervention when this is the only option. In the region of Navarre in Spain, a relatively extensive area (i.e. 10391 km2 ) is covered by three public hospitals: the Complejo Hospitalario de Navarra in Pamplona and two district hospitals in Estella and Tudela, located 50 km and 90 km, respectively, from the interventional cardiology service in Pamplona. Strategically, the goal is to provide reperfusion therapy for the maximum possible number of patients with ST-elevation myocardial infarction. Primary percutaneous coronary intervention is always performed in patients from the area around Pamplona and North Pamplona. In areas served by the district hospitals in Estella and Tudela, either invasive treatment or the combination of pharmacological and invasive therapy may be used depending on the sum total of the time between symptom onset and first contact with the health system plus the theoretical transfer time to the interventional cardiology service in Pamplona. The use of this combination treatment strategy, based on well-defined protocols, in a region like Navarre, which is characterized a mixture of urban and rural communities, appears to be very effective and, within its limitations, the program was simple to implement (AU)