Author (year)
Mutation Type
Changes observed on the electrocardiogram
Laboratory Exams
Main Findings
Moreau et al. (2018) (14)
Patient 1: SCN5A heterozygous missense mutation (NM_198056.2: c.3828G> A, D1275N). Patient 2: homozygous missense mutation in compound SCN5A (NM_198056.2: c. 3157G> A, E1053K).
Patient 1: Sinus bradycardia and paroxymal atrial flutter. Patient 2: bradycardia (47 bpm) associada a batimentos prematuros atriais e um bloco sinoatrial 2:1.
No changes in the blood clotting system were detected in both patients.
This study evaluated two youg people with voltage-gated sodiul channel mutations with similar electrical atrial dysfunction and severe stroke. Emphasizing that stroke can be associated with the mutations.
Tsukakoshi et al. (2018) (15)
SLC12A3 A588V mutation and SCN5A H558R polymorphism.
Sinus rhythm with prolongation of the QT interval (QT 0.48 seconds, QTc 0.49 seconds), no other arrhythmia was recorded on the Holter ECG.
Hypokalemia (2.7 mEq / L), hypomagnesaemia (1.5 mg / dL), low urinary calcium excretion (U-Ca / U-Cr 0.0028) and high level of serum bicarbonate (28.3 mEq / L ).
The changes observed in the ECG and laboratory tests are associated with the SLC12A3 A588V mutation and the SCN5A H558R polymorphism. Both related to mutations in voltage-gated sodium channels.
Besli et al. (2018) (12) Karyotype: 46, XYqh with minor polymorphic deletion in the heterochromatic region of the long arm of the Y chromosome and SCN5A polymorphism with point mutation in exon 11. Concave type ST segment elevation> 2 mm in the right precordial leads V1 - V2 followed by negative T waves consistent with BrS type 1. Routine biochemical tests, electrolytes and cardiac enzymes (creatine kinase MB and troponin I) within normal limits. No family history consistent with BrS, although the parents and sibling had a mutation or polymorphism similar to that of the patient. These changes are associated with mutations in voltage-gated sodium channels.
Baskar et al. (2014) (2)
Heterozygous mutation in SCN5A assessed from the presence of a rare P1048SfsX97 frame mutation (c.3142_3153del12ins11) identified in exon 17 and missense T220I mutation (c.659 C> T).
Exaggerated sinus arrhythmia and frequent early atrial contractions, with a moderately prolonged QRS duration of 118 ms and a normal corrected QT interval of 414 ms.
n.e.
Maternal inheritance of frameshift mutation identified with mild phenotypic manifestation and paternal inheritance of asymptomatic missense mutation. Sister of the heterozygous patient only for the frameshift mutation with mild phenotypic manifestation.