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1. National consensus on the cardiological treatment and follow-up of Kawasaki disease

Author

Ana Barrios Tascón, Fernando Centeno Malfaz, Henar Rojo Sombrero, Elisa Fernández-Cooke, Judith Sánchez-Manubens, Javier Pérez-Lescure Picarzo, Leticia Albert de la Torre, Carlos Alcalde Martín, María Álvarez-Fuente, Carolina Blanco Rodríguez, Gemma Giralt García, Federico Gutiérrez-Larraya, Libertad Latorre Navarro, Antonio Sánchez Andrés, Belén Toral Vázquez, Paula de Vera McMullan, Georges Akel Pérez, Francisco Javier Alados Arboledas, Josune Alegría Echauri, Patricia Aparicio García, Paola Arévalo, August Armengol Rofes, María Arroyas Sánchez, Enrique José Balbacid Domingo, Antonio Baño Rodrigo, María Silvina Barcudi Abbona, Isabel Barranco Fernández, Clara María Bernáldez Torralva, Enrique Blanca Jover, Sonia Blázquez Trigo, María Jose Bravo Sayago, María Jesús Caldeiro Díaz, María Teresa Cantero Tejedor, José Ignacio Carrasco Moreno, Carmen Carreras Blesa, Juan Manuel Carretero Bellón, María Pia Cassanello, Adela Cristina Cis Spoturno, Rosa Collell Hernández, Juan Antonio Costa Orvay, David Crespo Marcos, Héctor Augusto Cuéllar Manotas, Victorio Cuenca Peiro, Adalgisa Patricia de Caro, María de la Parte Cancho, Lucas Alberto Degano Iglesias, Lucía Deiros Bronte, Beatriz del Pozo Menéndez, Laura del Rey Megías, Juan José Díez Tomás, Paola Dolader Colina, Olga Domínguez García, María Nieves Domínguez Garrido, Paula Domínguez Manzano, Jesús Duque Bedoya, Javier Echeverría Espinosa, Fidel Ernesto Echeverría Nava, Hemir David Escobar Pinela, María Esquivias Asenjo, Ana Patricia Fariña Ruiz, Javier Fernández Aracama, Javier Fernández Sarabia, María Teresa Fernández Soria, Natalia Fernández Suárez, Aina Ferré Belda, Sergio Flores Villar, Julio Fontenla García, Ángeles Fuertes Moure, Antonia Pastora Gallego García de Vinuesa, Marta Gambra Arzoz, Francisco García Angleu, Estefanía García Cerro, María Elvira Garrido-Lestache Rodríguez-Monte, Nuria Gil Villanueva, Maribel Giner Crespo, Gema Giralt García, María Ersilia González Carrasco, María Aránzazu González Marín, Cristina González Menchén, Fernando Gran Ipiña, Inmaculada Guillén Rodríguez, María Teresa Guixeres Esteve, Manuel Haro Gómez, Aida Hernández Blanco, Yolanda Herranz Sánchez, Carmen Herrera del Rey, Aleida Ibañez Fernández, Gema Iñigo Martín, Ignacio Izquierdo Fos, María Ángeles Izquierdo Riezu, María Soledad Jiménez Casso, Lorenzo Jiménez Montañés, Carlos Labrandero de Lera, Bernardo López Abel, María Lozano Balseiro, José Luaces González, Nazaret Macías Julián, Jesús Antonio Mairal Cazcarra, María José Maldonado Toral, Alejandra Manchola Linero, Begoña Manso García, MaríMaravall Llagaria, Sonia Marcos Alonso, Cristina Marimón Blanch, Ismael Martín de Lara, María Martínez del Villar, María Isabel Martínez Lorente, Patricia Martínez Olorón, María Isabel Martínez Soto, Laura Marzo Checa, Miguel Ángel Matamala Morillo, Constancio Medrano López, Paula Méndez Abad, Francisco Meza Ortiz, Ana Moriano Gutiérrez, Antonio Moruno Tirado, Ángeles Ortega Montes, Alfonso Ortigado Matamala, Almudena Ortiz Garrido, Ignacio Oulego Erroz, Jorge Roberto Palacios Argueta, Laura Parra Agüera, Esteban Peiró Molina, Julio Ernesto Peralta Salas, César Jorge Perera Carrillo, Dolores Pérez Campos, Verónica Pérez Herrera, María Ángeles Pérez Moneo Agapito, Alejandro Pérez Muñuzuri, Ana María Pérez Pardo, José María Pérez Roldán, Francisco Javier Pérez-Lescure Picarzo, María Rosa Pérez-Piaya Moreno, Francesca Perin, Isabel Pinto Fuentes, Beatriz Plata Izquierdo, María Portoles Morales, María Ángeles Puigdevall Dalmau, Erika Pulido Ovalle, María Teresa Raga Poveda, Sara Rellán Rodríguez, Susana María Rey García, Erika Rezola Arcelus, Bibiana Riaño Méndez, Andrés Rico Armada, Natalia Rivero Jiménez, Moisés Rodríguez González, María Dolores Rodríguez Mesa, Raúl Rodríguez Serrano, María Henar Rojo Sombrero, Violeta Román Barba, Carlos Romero Ibarra, Félix Romero Vivas, Fernando Rueda Núñez, Joaquín Rueda Soriano, Anna Sabaté Rotés, Francisco Javier Salas Salguero, Julio Federico Saldaña Capuñay, Carlos Salido Peracaula, Alberto Sánchez Calderón, Cristina Sánchez Vaquerizo, Elena Sanz Pascual, María Isabel Serrano Rob, Ana Siles Sánchez-Manjavacas, Adolfo Sobrino Baladrón, Ruth Solana García, Dolors Soriano Belmonte, Moisés Sorlí García, Pedro Suárez Cabrera, Amalia Tamariz-Martel Moreno, Rocío Tamariz-Martel Moreno, María Ángeles Tejero Hernández, María Torres Rico, Susana Uriel Prat, Ana Isabel Usano Carrasco, Estíbaliz Valdeolmillos Padrino, María Teresa Valero Adán, Sandra Villagrá Albert, Javier Villalba Nogales, Carin Cristina Walter, Marta Yagüe Martín, and María Dolores Zambrano Casajona

Subjects
Enfermedad de Kawasaki, Síndrome linfomucocutáneo, Vasculitis, Arteritis, Aneurisma coronario, Arterias coronarias, Pediatrics, RJ1-570
Abstract

Kawasaki disease is a self-limiting acute vasculitis that affects small and medium-sized vessels, and is the most common cause of acquired heart disease in children in our environment. Up to 25% of untreated patients develop coronary aneurysms. It is suspected that an infectious agent may be the trigger of the disease, but the causative agent is still unknown. Based on the previous evidence, recommendations are proposed for the diagnosis, treatment of acute disease, and the long-term management of these patients, in order to unify criteria. The diagnosis must be quick, based on easy-to-use algorithms and with the support of complementary tests. This document includes the indication of available imaging techniques, as well as the planning of cardiological examinations based on the initial involvement. Intravenous immunoglobulin is the basis of the initial treatment. The role of corticosteroids is still controversial, but there are studies that support its use as adjuvant treatment. A multidisciplinary working group has developed a scheme with different treatment guidelines depending on the risk factors at diagnosis, the patient's clinical situation, and response to previous treatment, including indications for thromboprophylaxis in patients with coronary involvement. The stratification of risk for long-term treatment is essential, as well as the recommendations on the procedures based on the initial cardiological involvement and its progression. Patients with coronary aneurysms require continuous and uninterrupted cardiological monitoring for life. Resumen: La enfermedad de Kawasaki es una vasculitis aguda autolimitada que afecta a vasos de pequeño y mediano calibre y es la causa más común de enfermedad cardiaca adquirida en niños en nuestro medio. Hasta un 25% de pacientes no tratados desarrollan aneurismas coronarios. Se sospecha que un agente infeccioso puede ser el desencadenante de la enfermedad, pero aún se desconoce el agente causal. En base a la evidencia previa, se proponen recomendaciones para el diagnóstico, tratamiento de la enfermedad aguda y manejo a largo plazo de estos pacientes, con el fin de unificar criterios. El diagnóstico debe ser rápido, basado en algoritmos de fácil manejo y con el apoyo de pruebas complementarias. Este documento recoge la indicación de las técnicas de imagen disponibles, así como la planificación de las revisiones cardiológicas en función de la afectación inicial. La inmunoglobulina intravenosa es la base del tratamiento inicial. El papel de los corticoides aún es controvertido, pero cada vez hay más estudios que avalan su uso como tratamiento adyuvante. Un equipo multidisciplinar ha elaborado un esquema con diferentes pautas de tratamiento en función de los factores de riesgo al diagnóstico, situación clínica del paciente y respuesta al tratamiento previo, incluyendo indicaciones sobre tromboprofilaxis en pacientes con afectación coronaria. La estratificación del riesgo para el tratamiento a largo plazo es esencial, así como las recomendaciones acerca del proceder en función de la afectación cardiológica inicial y su evolución. Los pacientes con aneurismas coronarios requieren un seguimiento cardiológico continuo e ininterrumpido de por vida.

Published
2018
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2. Ventricular Repolarization Parameters and Coronary Involvement in Kawasaki Disease

Author

Ana Barrios-Tascón, Masaru Miura, Sara Domínguez-Rodríguez, Elisa Fernández-Cooke, Georgia Sarquella-Brugada, Alfredo Tagarro, Elisa Fernandez-Cooke, Cristina Calvo, Judith Sánchez-Manubens, Jordi Antón, Javier Aracil Santos, Esmeralda Nuñez Cuadros, Maria Luisa Navarro Gómez, David Moreno Pérez, María Martín Cantero Pérez, Esmeralda Nuñez Cuadros Pérez, Begoña Carazo Gallego Pérez, Fernando Sánchez García, Marisol Camacho Lovillo, Renata Marqués, Olaf Neth Laura, Fernández Silveira, Miguel Sánchez Forte, Ángeles Ortega Montes, Leticia Isabel Martínez Campos, Beatriz Bravo Mancheño, Margarita Camacho, Antonio F. Medina Claros, Carlos Salido, María Torres Rico, Beatriz Ruiz Saez, Elena Fernadez de la Puebla Lechuga, Ma José Lirola Cruz, Kety Maya Carrasco, Moisés Rodríguez González, Enrique Blanca Jover, José Uberos Fernández, María Mercedes Ibáñez Alcalde, Miguel Lafuente Hidalgo, Lorenzo Jiménez Montañés, Matilde Bustillo Alonso, Ariadna Ayerza Casas, Bárbara Montes Zapico, Carlos Pérez Méndez, Javier Fernández Aracama, Lucía Rodríguez, María Aleida Ibáñez Fernández, Sandra Navarro Campo, Silvia Escribà Bori, María Concepción Mir Perelló, Ma Ángeles de la Fuente Sánchez, Patricia Aparicio García, Carlos Briales, Joaquín Castilla Crespí, María Elena Colino Gil, Nerea Delgado Cabrera, Ana Bello Naranjo, Jesús Poch Páez, Moneyba García Yáñez, Montse González García, Maite Viadero, Beatriz Jiménez Montero, Olga Domínguez García, Begoña Losada Pinedo, Gema Iñigo Martín, Lucía María Escribano Gómez, Antonio Cepillo, Miguel Lillo Lillo, María Isabel Buedo, Laura del Rey, Elena Urbaneja Rodríguez, Sara Rellán Rodríguez, Teresa Cantero, Beatriz Plata Izquierdo, Luisa García-Cuenllas Álvarez, Ignacio Oulego Erroz, Elena Pérez Santaolalla, Carlos Alcalde Martín, Fernando Centeno Malfaz, Elena Pérez Gutiérrez, Ma Soledad Jiménez Casso, Fredy Prada, Rosa Bou, Estibaliz Iglesias, Joan Calzada, Olga Calavia Garsaball, Marc Tobeña Rue, Gemma Giralt García, Zulema Lobato, Neus Rius Gordillo, Montserrat Pascual Torres, María Méndez Hernández, Lourdes García, Sergio Flores Villar, Silvia Yevenes Ruiz, Laura Minguell Domingo, Anna Ballester, Ana Miralles, Berta Pujol Soler, Anton Foguet Vidal, Pere Sala Castellví, Angelita Serrano Aguiar, José Manuel Siurana Rodríguez, Anna Sangorrin Iranzo, Roser Álvarez Pérez, Paula Ribes Cajas, Pere Genaró i Jornet, Ana Grande Tejada, Cristina Zarallo, Federico Martinón-Torres, Irene Rivero Calle, Antonio Justicia Grande, María López Sousa, Alejandro Souto Vilas, Bernardo López Abel, Elisa de Miguel Esteban, Bibiana Riaño Méndez, Daniel Blázquez, Pablo Rojo Conejo, Carlos Grasa Lozano, Belén Toral, Leticia Albert De la Torre, Jaime de Inocencio, Mar Santos, Rafael Díaz-Delgado de la Peña, Paz Collado Ramos, Teresa Raga, Libertad Latorre, Sara Guillén, Ignacio Callejas Caballero, Luis Manuel Prieto Tato, María Fernanda Guzmán Monagas, Isabel Jiménez López, Sandra Villagrá, Viviana Arreo, Roi Piñeiro Pérez, María de la Parte, Amalia Tamariz-Martes, Marta Llorente Romano, Maria Belén Hernández Rupérez, Henar Rojo Sombrero, Estefanía García Cerro, Irene Maté Cano, Marta Villares Alonso, Marta Pilar Osuna Marco, Julia Jensen Veron, Cristina Zarallo Reales, María Dolores Rodríguez Mesa, Santiago Rueda Esteban, José Tomás Ramos Amador, Cristina González Menchén, Ana Belén Jiménez Jiménez, Pilar Galán, Dolores Pérez Campos, Ma Mercedes Bueno, David Crespo Marcos, Enrique Otheo de Tejada Barásoain, Walter Alberto Sifuentes Giraldo, María Luz Gámir Gámir, María José Cilleruelo Ortega, Agustín López López, Cristina Sánchez Vaquerizo, Ana Isabel Usano Carrasco, Ester Moreno Gómez, Olga Carvajal del Castillo, Beatriz Del Pozo Menéndez, Katie Badillo Navarro, Fernando Baquero, Lucía Deiros Bronte, Pablo Fernández Fraga, Nieves Domínguez, Beatriz Mercader Rodríguez, Francisco Castro García, Águeda Herrera Chamorro, Paula Alcañiz Rodríguez, Moisés Sorlí García, María Concepción Rex Nicolás, Elena Vera Romero, Patricia Martínez Olorón, Beatriz Rocandio Cilveti, Amaia Berridi, Laura Santos-Díez Vázquez, Olaia Fernández, Inmaculada Calvo, Belén Fernández Tudela, Manuel Oltra Benavent, Marta Dapena Archilés, Franciasco Sanchez Ferrer, César Gavilán, Ignacio Izquierdo Fos, María Isabel Serrano Robles, Yolanda Herranz Sánchez, Enrique Villalobos Pinto, Daniel Clemente Garulo, Stella Pie, Manuel Marrero Calvo, and José María Olmos García

Subjects
Male, medicine.medical_specialty, Ventricular Repolarization, Heart Diseases, Heart Ventricles, Enfermedad cardiovascular, Coronary disease, Mucocutaneous Lymph Node Syndrome, QT interval, 03 medical and health sciences, Recovery period, Electrocardiography, 0302 clinical medicine, Heart Conduction System, 030225 pediatrics, Internal medicine, medicine, Humans, In patient, 030212 general & internal medicine, Enfermedad coronaria, business.industry, Pediatría, Infant, Reproducibility of Results, medicine.disease, Increased risk, Cross-Sectional Studies, Síndrome mucocutáneo linfonodular, Child, Preschool, Pediatrics, Perinatology and Child Health, Cardiology, Kawasaki disease, Female, business
Abstract

Objectives: To evaluate electrocardiogram markers to predict coronary involvement in patients with Kawasaki disease by assessing measures of ventricular repolarization parameters on the 12-lead electrocardiogram. Study design: This cross-sectional study included 180 Spanish and Japanese patients ≤14 years of age with Kawasaki disease, with or without coronary involvement, from 2011 to 2016. We manually measured the Tp-Te/QT ratio and QTc interval (with Bazett's formula) in 12-lead electrocardiogram in the acute and recovery period and explored their potential association with coronary involvement. Results: No association was found between Tp-Te/QT ratio obtained manually in V5 and V6 leads and coronary involvement in the acute (V5:0.25 [IQR, 0.21-0.27] vs 0.25 [IQR, 0.20-0.27], P = .80; V6:0.24 [IQR, 0.21-0.27] vs 0.25 [IQR, 0.20-0.27], P = .86) or the recovery (V5: 0.23 [IQR, 0.20-0.25] vs 0.23 [IQR, 0.19-0.25], P = .68; V6: 0.23 [IQR, 0.20-0.25] vs 0.23 [IQR, 0.17-0.25], P = .50) period. By contrast, QTc in V5 and V6 was significantly lower in patients with Kawasaki disease and coronary involvement in the acute period (V5: 378 ms [IQR, 364-395 ms] vs 390 ms [IQR, 371-411 ms], P = .04; V6: 377 ms [IQR, 364-392 ms] vs 390 ms [IQR, 371-410 ms], P = .01). A QTc interval of

Published
2021

3. Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

Author

Susanne Morlot, Juan Cabezas-Herrera, Teresa M Lee, Bernd Auber, Alexander von Gise, Holger Thiele, Arne Zibat, Mythily Ganapathi, Barry Honig, Francisco Martínez-Azorín, Yun Li, Peter Burfeind, Christie M. Buchovecky, María Sabater-Molina, Moisés Sorlí-García, Lukas Cyganek, Loukas Argyriou, Donald Petrey, Markus D. Siegelin, Alejandro D. Iglesias, Gerd Hasenfuss, Bernd Wollnik, Priyanka Ahimaz, and Gökhan Yigit

Subjects
Cardiomyopathy, Dilated, Male, Ribosomal Proteins, Ribosomal Protein L3, Population, Cardiomyopathy, Mutation, Missense, 030204 cardiovascular system & hematology, Biology, Compound heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Ribosomal protein, Genetics, medicine, Missense mutation, Humans, Exome, education, Muscle, Skeletal, Gene, Genetics (clinical), Alleles, 030304 developmental biology, Original Investigation, 0303 health sciences, education.field_of_study, Eukaryotic Large Ribosomal Subunit, Infant, Newborn, Infant, Heart, Ribosomal RNA, medicine.disease, Pedigree, Phenotype, RNA, Female, Ribosomes
Abstract

Dilated cardiomyopathy (DCM) belongs to the most frequent forms of cardiomyopathy mainly characterized by cardiac dilatation and reduced systolic function. Although most cases of DCM are classified as sporadic, 20–30% of cases show a heritable pattern. Familial forms of DCM are genetically heterogeneous, and mutations in several genes have been identified that most commonly play a role in cytoskeleton and sarcomere-associated processes. Still, a large number of familial cases remain unsolved. Here, we report five individuals from three independent families who presented with severe dilated cardiomyopathy during the neonatal period. Using whole-exome sequencing (WES), we identified causative, compound heterozygous missense variants in RPL3L (ribosomal protein L3-like) in all the affected individuals. The identified variants co-segregated with the disease in each of the three families and were absent or very rare in the human population, in line with an autosomal recessive inheritance pattern. They are located within the conserved RPL3 domain of the protein and were classified as deleterious by several in silico prediction software applications. RPL3L is one of the four non-canonical riboprotein genes and it encodes the 60S ribosomal protein L3-like protein that is highly expressed only in cardiac and skeletal muscle. Three-dimensional homology modeling and in silico analysis of the affected residues in RPL3L indicate that the identified changes specifically alter the interaction of RPL3L with the RNA components of the 60S ribosomal subunit and thus destabilize its binding to the 60S subunit. In conclusion, we report that bi-allelic pathogenic variants in RPL3L are causative of an early-onset, severe neonatal form of dilated cardiomyopathy, and we show for the first time that cytoplasmic ribosomal proteins are involved in the pathogenesis of non-syndromic cardiomyopathies.

Published
2020

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