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Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.
Gurka, Jiri; Piherova, Lenka; Majer, Filip; Chaloupka, Anna; Zakova, Daniela; Pelak, Ondrej; Krebsova, Alice; Peichl, Petr; Krejci, Jan; Freiberger, Tomas; Melenovsky, Vojtech; Kautzner, Josef; Kalina, Tomas; Sikora, Jakub; Kubanek, Milos.
Afiliación
  • Gurka J; Department of Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
  • Piherova L; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Majer F; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Chaloupka A; 1st Internal Cardioangiologic Clinic, Faculty of Medicine, Masaryk University and St. Anne's University Hospital, Brno, Czech Republic.
  • Zakova D; Centre of Cardiovascular and Transplant Surgery, St. Annes University Hospital, Brno, Czech Republic.
  • Pelak O; Department of Paediatric Haematology and Oncology, Childhood Leukaemia Investigation Prague, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Krebsova A; Department of Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
  • Peichl P; Department of Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
  • Krejci J; 1st Internal Cardioangiologic Clinic, Faculty of Medicine, Masaryk University and St. Anne's University Hospital, Brno, Czech Republic.
  • Freiberger T; Centre of Cardiovascular and Transplant Surgery, St. Annes University Hospital, Brno, Czech Republic.
  • Melenovsky V; Department of Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
  • Kautzner J; Department of Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
  • Kalina T; Department of Paediatric Haematology and Oncology, Childhood Leukaemia Investigation Prague, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Sikora J; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Kubanek M; Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
ESC Heart Fail ; 7(5): 2534-2543, 2020 10.
Article en En | MEDLINE | ID: mdl-32657043
AIMS: Danon disease (DD) is a rare X-linked disorder caused by mutations in the lysosomal-associated membrane protein type 2 gene (LAMP2). DD is difficult to distinguish from other causes of dilated or hypertrophic cardiomyopathy (HCM) in female patients. As DD female patients regularly progress into advanced heart failure (AHF) aged 20-40 years, their early identification is critical to improve patient survival and facilitate genetic counselling. In this study, we evaluated the prevalence of DD among female patients with non-ischemic cardiomyopathy, who reached AHF and were younger than 40 years. METHODS AND RESULTS: The study cohort comprised 60 female patients: 47 (78%) heart transplant recipients, 2 (3%) patients treated with ventricular assist device, and 11 (18%) patients undergoing pre-transplant assessment. Aetiology of the cardiomyopathy was known in 15 patients (including two DD patients). LAMP2 expression in peripheral white blood cells (WBC) was tested by flow cytometry (FC) in the remaining 45 female patients. Whole exome sequencing was used as an alternative independent testing method to FC. Five additional female DD patients (two with different novel LAMP2 mutations) were identified by FC. The total prevalence of DD in this cohort was 12%. HCM phenotype (57% vs. 9%, * P = 0.022) and delta waves identified by electrocardiography (43% vs. 0%, ** P = 0.002) were significantly more frequent in DD female patients. CONCLUSIONS: Danon disease is an underdiagnosed cause of AHF in young female patients. LAMP2 expression testing in peripheral WBCs by FC can be used as an effective screening/diagnostic tool to identify DD in this patient population.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cardiomiopatía Hipertrófica / Enfermedad por Depósito de Glucógeno de Tipo IIb / Insuficiencia Cardíaca Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans Idioma: En Revista: ESC Heart Fail Año: 2020 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cardiomiopatía Hipertrófica / Enfermedad por Depósito de Glucógeno de Tipo IIb / Insuficiencia Cardíaca Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans Idioma: En Revista: ESC Heart Fail Año: 2020 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Reino Unido