The Diagnostic and Therapeutic Implications of Phenocopies and Mimics of Hypertrophic Cardiomyopathy

Bakalakos, Athanasios; Monda, Emanuele; Elliott, Perry Mark

doi:10.1016/j.cjca.2024.02.025

Cited by 2 publications

(1 citation statement)

References 99 publications

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“…Tetramer dissociation is the rate-limiting step in TTR aggregation, which also requires subsequent monomer misfolding to produce soluble misfolded TTR aggregates and insoluble aggregates, including amyloid fibrils [4]. In ATTR-CM, the deposition of TTR amyloid in the myocardium leads to a progressive increase in myocardial wall thickness and impairment in diastolic function [5][6][7].…”

Section: Introductionmentioning

confidence: 99%

Impact of Tafamidis on Delaying Clinical, Functional, and Structural Cardiac Changes in Patients with Wild-Type Transthyretin Amyloid Cardiomyopathy

Palmiero,

Monda,

Verrillo

et al. 2024

JCM

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Background: This study aimed to evaluate the effect of treatment with tafamidis on clinical, laboratory, functional, and structural cardiovascular imaging parameters at the 12-month follow-up timepoint in patients with wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM) and to assess the response to treatment in terms of disease progression. Methods: Patients with ATTRwt-CM undergoing treatment with tafamidis for >12 months were included. The patients underwent a comprehensive evaluation (including echocardiography, cardiac magnetic resonance imaging, six-minute walking test, assessment of quality of life, and laboratory tests) at baseline and the 12-month follow-up timepoint. Disease progression was assessed using a set of tools proposed by an international panel of experts, evaluating three main domains (clinical, biochemical, and structural). Results: The study cohort consisted of 25 patients (mean age of 75.9 ± 6.1 years, with 92% males). At the 12-month follow-up timepoint, an improvement in quality of life calculated with the KCCQ overall score (64 ± 20 vs. 75 ± 20, p = 0.002) and a reduction in pulmonary artery pressure (34 ± 10 mmHg vs. 30 ± 5 mmHg, p-value = 0.008) and in native T1 time were observed (1162 ± 66 ms vs. 1116 ± 52 ms, p-value = 0.001). Clinical, biochemical, and structural disease progression was observed in 6 (24%), 13 (52%), and 7 (28%) patients, respectively. Overall disease progression was observed in two patients (8%). Conclusions: This study described the impact of tafamidis treatment on clinical, laboratory, and functional parameters. Disease progression, assessed using a multiparametric tool recommended by a recent position paper of experts, was observed in a minority of patients.

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Section: Introductionmentioning

confidence: 99%

Impact of Tafamidis on Delaying Clinical, Functional, and Structural Cardiac Changes in Patients with Wild-Type Transthyretin Amyloid Cardiomyopathy

Palmiero,

Monda,

Verrillo

et al. 2024

JCM

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Insuficiência Cardíaca Como Resultado Da Sobreposição De Fenótipos De Cardiomiopatias, Um Relato De Caso

Negreiros,

Souza,

Rocha

et al. 2024

Rev. Contemp.

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Objetivo: Relatar o caso de uma paciente com insuficiência cardíaca por sobreposição de fenótipos de cardiomiopatias e realizar uma revisão bibliográfica sobre o tema. Metodologia: por se tratar de um relato de caso e revisão da literatura, os dados necessários para relatar o caso e as informações coletadas foram consultados no prontuário médico da paciente. A revisão da literatura foi realizada com auxílio de pesquisa clínica na base de dados Pubmed com os descritores "hypertrophic cardiomyopathy" e "left ventricule noncompaction", filtradas revisões, revisões sistemáticas e relatos de caso, na língua inglesa. Restritas publicações dentro dos últimos 10 anos, porém as que ultrapassaram esse período e foram consideradas de suma importância pela autoria deste trabalho também foram incluídas no processo de elaboração, totalizando 10 artigos selecionados. Conclusão: A partir da elaboração do presente artigo é possível demonstrar a existência de casos de insuficiência cardíaca decorrente da sobreposição de fenótipos entre cardiomiopatia hipertrófica e não compactada, inclusive com achados de imagens que podem coexistir, sendo a avaliação genética uma aliada para o reconhecimento precoce para promover melhor assistência e menor morbimortalidade nesses casos.

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The Diagnostic and Therapeutic Implications of Phenocopies and Mimics of Hypertrophic Cardiomyopathy

Cited by 2 publications

References 99 publications

Impact of Tafamidis on Delaying Clinical, Functional, and Structural Cardiac Changes in Patients with Wild-Type Transthyretin Amyloid Cardiomyopathy

Impact of Tafamidis on Delaying Clinical, Functional, and Structural Cardiac Changes in Patients with Wild-Type Transthyretin Amyloid Cardiomyopathy

Insuficiência Cardíaca Como Resultado Da Sobreposição De Fenótipos De Cardiomiopatias, Um Relato De Caso

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