Corrigendum: Facts and Gaps in Exercise Influence on Arrhythmogenic Cardiomyopathy: New Insights From a Meta-Analysis Approach

Martínez-Solé, Julia; Sabater-Molina, María; Braza-Boïls, Aitana; Mateo, Juan José Santos; Molina, Pilar; Martínez‐Dolz, Luis; Gimeno, Juan R.; Zorio, Esther

doi:10.3389/fcvm.2021.816280

Cited by 1 publication

(2 citation statements)

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“…In cohort 2 (ACM, Table 2), approximately half of the patients included were males (WT = 50%, heterozygous = 47%, and homozygous = 55%), while 45% of the WT, 48% of heterozygous, and 47% of homozygous HRC carriers were index patients. The median follow-up was 8 [4][5][6][7][8][9][10][11][12][13][14][15] years for WT and heterozygous carriers and 10 [3-14] years for homozygous HRC carriers. For all parameters, no significant differences between groups were found.…”

Section: Patient Characteristicsmentioning

confidence: 99%

“…Therefore, additional genetic and non-genetic factors (secondary hits) are believed to contribute to disease development and progression. For example, intensive exercise might increase disease penetrance and enhance the risk for life-threatening VA in ACM patients [11]. Similarly, the presence of multiple (likely) pathogenic variants in ACM-associated genes may increase disease severity [12].…”

Section: Introductionmentioning

confidence: 99%

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Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies

van der Voorn,

van Drie,

Proost

et al. 2023

IJMS

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Inherited forms of arrhythmogenic and dilated cardiomyopathy (ACM and DCM) are characterized by variable disease expression and age-related penetrance. Calcium (Ca2+) is crucially important for proper cardiac function, and dysregulation of Ca2+ homeostasis seems to underly cardiomyopathy etiology. A polymorphism, c.286T>G p.(Ser96Ala), in the gene encoding the histidine-rich Ca2+ binding (HRC) protein, relevant for sarcoplasmic reticulum Ca2+ cycling, has previously been associated with a marked increased risk of life-threatening arrhythmias among idiopathic DCM patients. Following this finding, we investigated whether p.(Ser96Ala) affects major cardiac disease manifestations in carriers of the phospholamban (PLN) c.40_42delAGA; p.(Arg14del) pathogenic variant (cohort 1); patients diagnosed with, or predisposed to, ACM (cohort 2); and DCM patients (cohort 3). We found that the allele frequency of the p.(Ser96Ala) polymorphism was similar across the general European–American population (control cohort, 40.3–42.2%) and the different cardiomyopathy cohorts (cohorts 1–3, 40.9–43.9%). Furthermore, the p.(Ser96Ala) polymorphism was not associated with life-threatening arrhythmias or heart failure-related events across various patient cohorts. We therefore conclude that there is a lack of evidence supporting the important role of the HRC p.(Ser96Ala) polymorphism as a modifier in cardiomyopathy, refuting previous findings. Further research is required to identify bona fide genomic predictors for the stratification of cardiomyopathy patients and their risk for life-threatening outcomes.

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