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1.
Article in English | WPRIM (Western Pacific) | ID: wpr-890975

ABSTRACT

Background@#The congenital long QT syndrome type 2 is caused by mutations in KCNH2 gene that encodes the alpha subunit of potassium channel Kv11.1. The carriers of the pathogenic variant of KCNH2 gene manifest a phenotype characterized by prolongation of QT interval and increased risk of sudden cardiac death due to life-threatening ventricular tachyarrhythmias. @*Results@#A family composed of 17 members with a family history of sudden death and recurrent syncopes was studied. The DNA of proband with clinical manifestations of long QT syndrome was analyzed using a massive DNA sequencer that included the following genes: KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, ANK2, KCNJ2, CACNA1, CAV3, SCN1B, SCN4B, AKAP9, SNTA1, CALM1, KCNJ5, RYR2 and TRDN. DNA sequencing of proband identified a novel pathogenic variant of KCNH2 gene produced by a heterozygous frameshift mutation c.46delG, pAsp16Thrfs*44 resulting in the synthesis of a truncated alpha subunit of the Kv11.1 ion channel. Eight family members manifested the phenotype of long QT syndrome. The study of family segregation using Sanger sequencing revealed the identical variant in several members of the family with a positive phenotype. @*Conclusions@#The clinical and genetic findings of this family demonstrate that the novel frameshift mutation causing haploinsufficiency can result in a congenital long QT syndrome with a severe phenotypic manifestation and an elevated risk of sudden cardiac death.

2.
Article in English | WPRIM (Western Pacific) | ID: wpr-898679

ABSTRACT

Background@#The congenital long QT syndrome type 2 is caused by mutations in KCNH2 gene that encodes the alpha subunit of potassium channel Kv11.1. The carriers of the pathogenic variant of KCNH2 gene manifest a phenotype characterized by prolongation of QT interval and increased risk of sudden cardiac death due to life-threatening ventricular tachyarrhythmias. @*Results@#A family composed of 17 members with a family history of sudden death and recurrent syncopes was studied. The DNA of proband with clinical manifestations of long QT syndrome was analyzed using a massive DNA sequencer that included the following genes: KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, ANK2, KCNJ2, CACNA1, CAV3, SCN1B, SCN4B, AKAP9, SNTA1, CALM1, KCNJ5, RYR2 and TRDN. DNA sequencing of proband identified a novel pathogenic variant of KCNH2 gene produced by a heterozygous frameshift mutation c.46delG, pAsp16Thrfs*44 resulting in the synthesis of a truncated alpha subunit of the Kv11.1 ion channel. Eight family members manifested the phenotype of long QT syndrome. The study of family segregation using Sanger sequencing revealed the identical variant in several members of the family with a positive phenotype. @*Conclusions@#The clinical and genetic findings of this family demonstrate that the novel frameshift mutation causing haploinsufficiency can result in a congenital long QT syndrome with a severe phenotypic manifestation and an elevated risk of sudden cardiac death.

3.
J Electrocardiol ; 63: 35-40, 2020.
Article in English | MEDLINE | ID: mdl-33070032

ABSTRACT

BACKGROUND: His Bundle pacing (HBP) preserves native ventricular activation through His Purkinje. Unfortunately, most current techniques for HBP implants require sheaths, special leads, and an electrophysiology setup for electrogram recording. METHODS: We developed an implantation technique guided by a non-invasive assessment of left ventricular electrical delay (LVED) as a measure of intraventricular dyssynchrony. The objective was to evaluate the usefulness and safety of this technique for implants of pacemakers and ICDs with right ventricular septal pacing (RVSP) using conventional screw-in leads and compare it with a reduced group of HBP (n = 32) guided by His potential mapping. 208 patients eligible for ventricular stimulation were implanted. Conventional screw-in leads were used in all cases. To ensure mechanical stability, stylets required a slight reshaping at the tip RESULTS: RVSP normalized electrical activity in patients with conduction disease, producing NS-HBP-like patterns. The parameters evaluated during implantation for the RVSP group were better than those of HBP and remained constant at a twelve months follow-up. In proportion, the number of dislodgments and the need for CRT upgrade was lower for RVSP than for HBP. Additionally, fluoroscopy time was significantly reduced in the RVSP group. CONCLUSIONS: This technique successfully guided RVSP implants in a non-invasive way and represents a simple alternative to the implant of a cardiac stimulation device.


Subject(s)
Bundle of His , Cardiac Pacing, Artificial , Electrocardiography , Heart Ventricles , Humans , Treatment Outcome
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