Work

Correction: BAG3-related myofibrillar myopathy: focus on its cardiac involvement

Year: 2026

Type: erratum

Abstract: Correction: BAG3-related myofibrillar myopathy: focus on its cardiac involvement, Article ID: 1636999Missing in-text citation [-DeFuenmayor-Fernández de la Hoz et al, doi 10.1007/s00415-023-12039-9 -Zhan et al, 2022 doi: 10.1097/MD.0000000000028484] was not cited in the article. The citation has now been inserted in the section [table 2 caption] and should read: "[Table 2 Literature review of patients carrying the BAG3 p.Pro209Leu variant Values are expressed as n (%), mean ± SD, median [IQR], HCM, Hypertrophic cardiomyopathy; HTx Heart transplantation; LoA Loss of Ambulation; NA, not available; RCM, restrictive cardiomyopathy; (y), years ; (-), Not applicable. a Review of literature available on supplementary data, from references : Selcen et al, 2009; Odgerel et al,2010; Lee HC et al, 2012; Jaffer et al, 2012; Kostera et al, 2015; Konersman et al, 2015; D'avila et al 2016; Kim et al, 2018; Noury et al, 2018; Schänzer et al, 2018; Andersen et al, 2018; Malatesta et al, 2020; Scarpini et al, 2021; Xu et al, 2021; Akaba et al, 2022; Angelini et al, 2023; b Fernandez-Eulate et al., 2025: the study population included some patients previously reported in the articles listed above: Selcen et al, 2009; Odgerel et al,2010; Lee HC et al, 2012; Jaffer et al, 2012; Kostera et al, 2015; Konersman et al, 2015; Kim et al, 2018; Noury et al, 2018; Schänzer et al, 2018; Andersen et al, 2018; Malatesta et al, 2020; Scarpini et al, 2021; Xu et al, 2021; Akaba et al, 2022; De Fuenmayor-Fernández de la Hoz et al, 2024 ; Zhan et al, 2022 ; Angelini et al, 2023 c Median values were calculated based on the number of available observations.]"There was a mistake in table 2 as published. [ The literature review included data from Fernandez-Eulate et al., 2025. However, this article, which included patients from previous publications, was inadvertently counted as a primary study, leading to duplicate inclusion of some cases and an overestimation of the total number of included studies. We have now carefully reassessed the literature and corrected the table 2 A correction has been made to the section [Discussion,4]:"[ A review of 39 cases carrying this pathogenic variation from the literature reveals findings consistent with our cohort (Table 2). Neurological symptoms were the principal mode of disease discovery (74.3%). Gait disturbances and muscle weakness were the most common initial neurological symptoms and over time, all patients developed neurological symptoms of an axonal neuropathy. However, in eight patients, cardiac symptoms (chest pain, heart murmur and heart failure) were the first reported signs and appears before neurological signs (Jaffer et al., 2012;Konersman et al., 2015;Schänzer et al., 2018;Scarpini et al., 2021;Fernández-Eulate et al., 2025). Cardiac involvement affected 76.9% of these patients. Early-onset cardiomyopathy was the most frequently reported feature, exhibiting a restrictive pattern in 69.2% of cases and associated to ventricular hypertrophy in six cases. Two patients had mild LV wall thinckening, raising the possibility of restrictive phenotype seen at an early stage. Nine patients had no cardiac anomalies despite similar neurological, respiratory, and orthopedic symptoms (Andersen et al., 2018;Kim et al., 2018;Noury et al., 2018;Malatesta et al., 2020;Akaba et al., 2022;Fernández-Eulate et al., 2025), suggesting a variable expressivity of the cardiac phenotype.]." This has been corrected to read: "[A review of reported cases carrying this pathogenic variant revealed findings consistent with our cohort ( Neurological symptoms were the principal mode of disease discovery (68.2-81.2%). Gait disturbances and muscle weakness were the most common initial neurological symptoms and over time, all patients developed neurological symptoms of an axonal neuropathy. However, cardiac symptoms (chest pain, heart murmur and heart failure) were the first reported signs and appears before neurological signs in at least 5 patients (Jaffer et al., 2012;Konersman et al., 2015;Schänzer et al., 2018;Scarpini et al., 2021) . Cardiac involvement affected 75-77.3% of these patients. Early-onset cardiomyopathy was the most frequently reported feature, exhibiting a restrictive pattern in 68-75% of cases and associated to ventricular hypertrophy in six cases. One patient had mild LV wall thickening, raising the possibility of restrictive phenotype seen at an early stage (D'avila et al, 2016). In our literature review, five patients had no cardiac anomalies despite similar neurological, respiratory, and orthopedic symptoms (Andersen et al., 2018;Kim et al., 2018;Noury et al., 2018;Malatesta et al., 2020;Akaba et al., 2022), suggesting a variable expressivity of the cardiac phenotype.]""[ Respiratory involvement affected 84.6% of patient with ventilation support required for most of them. Heart transplantation was performed in 11 cases, with extra-cardiac manifestations occurring post-transplant in three cases (Jaffer et al., 2012;Konersman et al., 2015;Schänzer et al., 2018). Despite heart transplantation, three patients died: one boy at 15 years old, 2 years after transplant, and two additional patients more than 10 years post-transplant (Odgerel et al., 2010;Fernández-Eulate et al., 2025). Eight transplanted patients were a live at last follow-up, with a median post-transplant survival of 4 [2.75-10.25] years but had respiratory and orthopedic involvements. We believe that early referral to cardiologist can delay and improve heart transplant prognosis. Overall mortality was high, with 30.7% of patients dying; the most frequent cause was sudden death, raising the possibility of underlying ventricular arrhythmias.]." This has been corrected to read "[Respiratory involvement affected 81.8-93.3% of patient with ventilation support required for most of them. Heart transplantation was performed in 25-31.8% of patients, with extra-cardiac manifestations occuring post-transplant in three cases (Jaffer et al., 2012;Konersman et al., 2015;Schänzer et al., 2018). Despite heart transplantation, three patients died : one boy at 15 years old, two years after transplant, and two additional patients more than 10 years posttransplant (Odgerel et al., 2010;Fernández-Eulate et al., 2025). In our literature review, six transplanted patients were a live at last follow-up, with a median post-transplant survival of 3.5 [2.25 -9.25] years but had respiratory and orthopedic involvements. We believe that early referral to cardiologist can delay and improve heart transplant prognosis. Overall mortality was high, ranged from 18.25 to 50% of patients dying; the most frequent cause was sudden death, raising the possibility of underlying ventricular arrhythmias.]"The original version of this article has been updated.for a reason not seen here, please contact the journal's editorial office.

Source: Frontiers in Genetics

DOI: 10.3389/fgene.2026.1786473