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Case Reports
. 2023 Dec 1:10:1294197.
doi: 10.3389/fcvm.2023.1294197. eCollection 2023.

Case Report: SCN5A mutations in three young patients with sick sinus syndrome

Jiayu Liang  1 , Suxin Luo  1 , Bi Huang  1
Affiliations
Case Reports

Case Report: SCN5A mutations in three young patients with sick sinus syndrome

Jiayu Liang et al. Front Cardiovasc Med. .

Abstract

Background: Sick Sinus Syndrome (SSS) is generally regarded as a degenerative disease with aging; however, genetic mutations have been confirmed to be associated with SSS. Among them, mutations in SCN5A are common in patients with SSS. We report three young SSS patients with SCN5A mutations at different sites that have not been previously reported in Asian patients.

Case presentation: The three patients were all young females who presented with symptoms of severe bradycardia and paroxysmal atrial flutter, for which two patients received ablation therapy. However, after ablation, Holter monitoring indicated a significant long cardiac arrest; therefore, the patients received pacemaker implantation. The three patients had familial SSS, and genetic testing was performed. Mutations were found in SCN5A at different sites in the three families. All three patients received pacemaker implantation, resulting in the symptoms of severe bradycardia disappearing.

Conclusion: SCN5A heterozygous mutations are common among patients clinically affected by SSS. Their causative role is confirmed by our data and by the co-occurrence of genetic arrhythmias among our patients. Genetic testing for SSS cannot be performed as a single gene panel because of feasible literature results, but in presence of familial and personal history of SSS in association with arrhythmias can provide clinically useful information.

Keywords: SCN5A gene; gene mutation; gene testing; pacemaker implantation; sick sinus syndrome.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Arrhythmia in case 1. (A) Atrial flutter with 2:1 conduction; (B) Junctional escape rhythm with atrial standstill; (C) Holter indicated maximum R-R interval of 7.96 s; (D) Gene testing revealed SGN5A gene mutation (C.664C > G).
Figure 2
Figure 2
Arrhythmia in case 2. (A) Atrial flutter with 2:1 conduction; (B) Holter indicated maximum R-R interval of 6.73 s; (C) Gene testing revealed SGN5A gene mutation (c.3823G > A).
Figure 3
Figure 3
Arrhythmia in case 3. (A) Atrial flutter with 2-4:1 conduction; (B) Holter indicated maximum R-R interval of 4.11 s; (C) Gene testing revealed SGN5A gene mutation (c.4895G > A).
Figure 4
Figure 4
The timelines of the diagnosis and treatment in the three patients. (A) Timeline of case 1; (B) Timeline of case 2; (C) Timeline of case 3. AF, atrial flutter; PM, pacemaker; RA, radiofrequency ablation; SSS, sick sinus syndrome.
See this image and copyright information in PMC

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