SCN2A and arrhythmia: A potential correlation? A case report and literature review

Arossa, Alessia; Tzialla, Chryssoula; Mannarino, Savina; Orcesi, Simona; Veggiotti, Pierangelo; Fiandrino, Giacomo; Zuffardi, Orsetta; Errichiello, Edoardo

doi:10.1016/j.ejmg.2022.104639

Cited by 4 publications

(2 citation statements)

References 23 publications

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“…DEG analysis revealed an upregulation of gene encoding ion channels, e.g. SCNN1, SCN7A, SCN2A, KCNQ2, KCNN3, in iPSC-CMs co-cultured with CD4 + TRM cells compared to non-TRM cells with KCNN3 and SCN2A previously associated with AF 38,39 (Fig. 6c & Suppl table 13).…”

Section: Trm Cells Can Directly Modulate Cardiomyocyte Functionmentioning

confidence: 92%

Tissue-resident memory T cells in Epicardial adipose tissue comprise transcriptionally distinct subsets that are modulated in Atrial Fibrillation

Longhi,

Vyas,

Sandhar

et al. 2023

Preprint

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Atrial fibrillation (AF) is the most common sustained arrhythmia and carries an increased risk of stroke and heart failure. Here, we investigate how the immune infiltrate of human epicardial adipose tissue (EAT), which directly overlies the myocardium, contributes to AF. Flow cytometry analysis revealed an enrichment of tissue-resident memory T (TRM) cells in AF patients. Cellular indexing of transcriptomes and epitopes by sequencing (CITE-Seq) and single-cell TCR sequencing, identified two transcriptionally distinct CD8+ TRM cells that are modulated in AF. Spatial transcriptomic analysis of EAT and atrial tissue identified the border region between the tissues to be a region of intense inflammatory and fibrotic activity, while the addition of TRM populations to atrial cardiomyocytes demonstrated their ability to differentially alter calcium flux as well as activate inflammatory and apoptotic signalling pathways. This study identified EAT as a novel reservoir of TRM cells that can directly modulate vulnerability to cardiac arrhythmia.

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Section: Trm Cells Can Directly Modulate Cardiomyocyte Functionmentioning

confidence: 92%

Tissue-resident memory T cells in Epicardial adipose tissue comprise transcriptionally distinct subsets that are modulated in Atrial Fibrillation

Longhi,

Vyas,

Sandhar

et al. 2023

Preprint

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show abstract

“…In this study, we expand the findings relating to the cardiovascular system by reporting pericardial effusion. The aforementioned characteristics that could potentially refer to SCN2A channelopathies, should prompt the use of prenatal WES for the identification of the pathogenic variants and confirmation of diagnosis [37].…”

Section: Familymentioning

confidence: 99%

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies

Hadjipanteli,

Theodosiou,

Papaevripidou

et al. 2024

Genes

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Voltage-gated sodium channels (VGSCs) are responsible for the initiation and propagation of action potentials in the brain and muscle. Pathogenic variants in genes encoding VGSCs have been associated with severe disorders including epileptic encephalopathies and congenital myopathies. In this study, we identified pathogenic variants in genes encoding the α subunit of VGSCs in the fetuses of two unrelated families with the use of trio-based whole exome sequencing, as part of a larger cohort study. Sanger sequencing was performed for variant confirmation as well as parental phasing. The fetus of the first family carried a known de novo heterozygous missense variant in the SCN2A gene (NM_001040143.2:c.751G>A p.(Val251Ile)) and presented intrauterine growth retardation, hand clenching and ventriculomegaly. Neonatally, the proband also exhibited refractory epilepsy, spasms and MRI abnormalities. The fetus of the second family was a compound heterozygote for two parentally inherited novel missense variants in the SCN4A gene (NM_000334.4:c.4340T>C, p.(Phe1447Ser), NM_000334.4:c.3798G>C, p.(Glu1266Asp)) and presented a severe prenatal phenotype including talipes, fetal hypokinesia, hypoplastic lungs, polyhydramnios, ear abnormalities and others. Both probands died soon after birth. In a subsequent pregnancy of the latter family, the fetus was also a compound heterozygote for the same parentally inherited variants. This pregnancy was terminated due to multiple ultrasound abnormalities similar to the first pregnancy. Our results suggest a potentially crucial role of the VGSC gene family in fetal development and early lethality.

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Epicardial adipose tissue resident memory T cells in atrial fibrillation

Ruggeri,

Papadopoulou,

Kallikourdis

2024

Nat Cardiovasc Res

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SCN2A and arrhythmia: A potential correlation? A case report and literature review

Cited by 4 publications

References 23 publications

Tissue-resident memory T cells in Epicardial adipose tissue comprise transcriptionally distinct subsets that are modulated in Atrial Fibrillation

Tissue-resident memory T cells in Epicardial adipose tissue comprise transcriptionally distinct subsets that are modulated in Atrial Fibrillation

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies

Epicardial adipose tissue resident memory T cells in atrial fibrillation

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