Caracterización de la amiloidosis cardiaca hereditaria por transtirretina en España

Rubio, Judit; Sánchez, Ana José Manovel; González‐Costello, José; García‐Pavía, Pablo; Freire, Javier Limeres; García‐Pinilla, José Manuel; Grima, Esther Zorio; García‐Álvarez, Ana; Gómez, Mónica; Castro, M A Espinosa; Barge‐Caballero, Gonzalo; Blanes, Juan Ramón Gimeno; Rovira, María Teresa Bosch; Díaz, Luis Miguel Rincón; Arregui, Miguel Ángel Aibar; Gallego‐Delgado, María; Jiménez‐Jáimez, Juan; Moreno, Marina Martínez; Basurte, Mayte; Achaga, Xabier Arana; Baldomero, Idaira Famara Hernández; Ripoll‐Vera, Tomás; AC-TTRv-España, en representación del Grupo de Investigadores

doi:10.1016/j.recesp.2021.07.007

Cited by 12 publications

(3 citation statements)

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“…In this study, CMR showed increased T1 map and ECV values, in addition to subendocardial late gadolinium enhancement, which is characteristic of patients with ATTR-CM and is also in agreement with a previous study [27].…”

Section: Discussionsupporting

confidence: 93%

“…Cardiac amyloidosis is a progressive disease that is one of the etiologies of HF and requires costs and resources for the follow-up and treatment of patients. According to the NYHA classi cation, most patients were classi ed as CF II, which is consistent with previous studies [27,29].…”

Section: Discussionsupporting

confidence: 90%

“…There was also evidence of this phenotype predominating in geographic regions such as South America and Asia and in European countries such as Spain and Portugal, according to the Transthyretin Amyloidosis Outcomes Survey (THAOS) [26]. In a study from Spain, the neurological phenotype was mainly associated with the variant form, similar to the results of this study [27].…”

Section: Discussionsupporting

confidence: 80%

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Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP)

Fernandes,

Luzuriaga,

Fonseca

et al. 2024

Preprint

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Background: Transthyretin amyloidosis (ATTR) is a multisystem disease caused by the deposition of fibrillar protein in organs and tissues. ATTR genotypes and phenotypes are highly heterogeneous. We present data on physical signs and symptoms, cardiac and neurological assessments and genetics in patients enrolled in the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil. Results: Six hundred-forty-four patients were enrolled, 505 with the variant form (ATTRv) and 139 with wild-type (ATTRwt). Sixteen different mutations were detected, the most common being Val50Met (48.3%) and V142Ile (40.8%). Overall, more than half of the patients presented cardiological involvement, and the difference in this proportion between the ATTRv and ATTRwt groups was significant (43.9 vs. 89.9%; p<0.001). The neurological phenotype also differed between ATTRv and ATTRwt (56.8 vs. 31.7%; p<0.001). The mixed phenotype was found in 25.6% of the population, without a significant difference between the forms of amyloidosis. A group of patients remained asymptomatic (10.4%), with a lower proportion of asymptomatic ATTRwt patients. Conclusions: This study details the clinical and genetic spectrum of patients with ATTR in São Paulo, Brazil. This preliminary analysis highlights the considerable phenotypic heterogeneity of neurological and cardiac manifestations in patients with variant and wild-type ATTR.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionsupporting

confidence: 90%

Section: Discussionsupporting

confidence: 80%

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