Characterization of hereditary transthyretin cardiac amyloidosis in Spain.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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Álvarez Rubio Jorge, Manovel Sánchez Ana José, González-Costello José, García-Pavía Pablo, Limeres Freire Javier, García-Pinilla José Manuel, Zorio Grima Esther, García-Álvarez Ana, Valverde Gómez María, Espinosa Castro M Ángeles, Barge-Caballero Gonzalo, Gimeno Blanes Juan Ramón, Bosch Rovira María Teresa, Rincón Díaz Luis Miguel, Aibar Arregui Miguel Ángel, Gallego-Delgado María, Jiménez-Jáimez Juan, Martínez Moreno Marina, Basurte Mayte, Arana Achaga Xabier, Hernández Baldomero Idaira Famara, Ripoll-Vera Tomás, AC-TTRv-Spain Investigator Group
Аннотация
METHODS: Retrospective multicenter study of patients diagnosed with hATTR with cardiac involvement from Spanish centers. We collected demographic, clinical, and genetic data.
RESULTS: A total of 181 patients from 26 centers were included (65.2% men, with a median age at diagnosis of 62 years). The most frequent mutations were Val50Met (67.7%) and Val142Ile (12.4%). The main reason for consultation was extracardiac symptoms (69%), mainly neurological. The mean N-terminal pro-B-type natriuretic peptide level was 2145±3586 pg/mL. The most characteristic electrocardiogram findings were a pseudoinfarct pattern (25.9%) and atrioventricular block (25.3%). Mean ventricular thickness was 15.4±4.1mm. Longitudinal strain was reduced in basal segments by 29.4%. Late diffuse subendocardial enhancement was observed in 58.8%. Perugini grade 2 or 3 uptake was observed in 75% of scintigraphy scans. During follow-up, 24.9% of the patients were admitted for heart failure, 34.3% required a pacemaker, and 31.6% required a liver transplant. One third (32.5%) died during follow-up, mainly due to heart failure (28.8%). The presence of non-Val50Met mutations was associated with a worse prognosis.
CONCLUSIONS: HATTR cardiac amyloidosis in Spain shows heterogeneous genetic and clinical involvement. The prognosis is poor, mainly due to cardiac complications. Consequently early diagnosis and treatment are vital.