Moreau et al. (2018) (14)
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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).
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Patient 1: Sinus bradycardia and paroxymal atrial flutter.
Patient 2: bradycardia (47 bpm) associada a batimentos prematuros
atriais e um bloco sinoatrial 2:1.
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No changes in the blood clotting system were detected in both
patients.
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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.
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Tsukakoshi et al.
(2018) (15)
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SLC12A3 A588V mutation and SCN5A H558R polymorphism.
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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.
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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 ).
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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.
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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).
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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.
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n.e.
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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.
|