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Dilated cardiomyopathy due to a novel combination of TTN and BAG3 genetic variants: From acute heart failure to subclinical phenotypes.
Bottillo, Irene; Giordano, Carla; Ciccone, Maria Pia; Pignataro, Maria Gemma; Albi, Fiammetta; Parisi, Gabriella; Formicola, Daniela; Grotta, Simona; Ranocchi, Federico; Giuli, Maria Valeria; Checquolo, Saula; Masuelli, Laura; Re, Federica; Majore, Silvia; d'Amati, Giulia; Grammatico, Paola.
Afiliación
  • Bottillo I; Division of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy. Electronic address: irene.bottillo@uniroma1.it.
  • Giordano C; Department of Radiology, Oncology and Pathology, Sapienza, University of Rome, Rome, Italy.
  • Ciccone MP; Division of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Pignataro MG; Department of Radiology, Oncology and Pathology, Sapienza, University of Rome, Rome, Italy.
  • Albi F; Cardiology Division, Cardiac Arrhythmia Center and Cardiomyopathies Unit, San Camillo Forlanini Hospital, Rome, Italy.
  • Parisi G; Department of Clinical Microbiology and Virology, San Camillo-Forlanini Hospital, Rome, Italy.
  • Formicola D; Division of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Grotta S; Division of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Ranocchi F; Cardiac Surgery and Heart Transplantation Unit, San Camillo Hospital, Rome, Italy.
  • Giuli MV; Department of Medico-surgical Sciences and Biotechnologies, Sapienza University, Latina, Italy.
  • Checquolo S; Department of Medico-surgical Sciences and Biotechnologies, Sapienza University, Latina, Italy.
  • Masuelli L; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Re F; Cardiology Division, Cardiac Arrhythmia Center and Cardiomyopathies Unit, San Camillo Forlanini Hospital, Rome, Italy.
  • Majore S; Division of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • d'Amati G; Department of Radiology, Oncology and Pathology, Sapienza, University of Rome, Rome, Italy.
  • Grammatico P; Division of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
Cardiovasc Pathol ; 73: 107675, 2024.
Article en En | MEDLINE | ID: mdl-39059779
ABSTRACT
Dilated cardiomyopathy (DCM) is defined as left ventricular enlargement accompanied by systolic dysfunction not explained by abnormal loading conditions or coronary heart disease. The DCM clinical spectrum is broad, ranging from subclinical to severe presentation with progression to end stage heart failure. To date, different genetic loci have been found to have moderate/definitive evidence for causality in DCM and pathogenic variants in the TTN gene represent the main genetic determinant. Here, we describe a family in which the co-occurrence of two genetic hits, one in the TTN and one in the BAG3 gene, was associated with heterogeneous clinical presentation ranging from subclinical phenotypes to acute cardiogenic shock mimicking fulminant myocarditis. We hypothesize that at least some specific BAG3 genotypes could be related to DCM presenting with acute heart failure and suggest that patients and relatives carrying BAG3 pathogenic variants should be addressed to a tertiary-level heart care center.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Cardiomiopatía Dilatada / Predisposición Genética a la Enfermedad / Proteínas Adaptadoras Transductoras de Señales / Proteínas Reguladoras de la Apoptosis / Conectina / Insuficiencia Cardíaca Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Cardiovasc Pathol Asunto de la revista: ANGIOLOGIA / CARDIOLOGIA / PATOLOGIA Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Cardiomiopatía Dilatada / Predisposición Genética a la Enfermedad / Proteínas Adaptadoras Transductoras de Señales / Proteínas Reguladoras de la Apoptosis / Conectina / Insuficiencia Cardíaca Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Cardiovasc Pathol Asunto de la revista: ANGIOLOGIA / CARDIOLOGIA / PATOLOGIA Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos