KCNH2 mutation c.3099_3112del causes congenital long QT syndrome type 2 with gender differences
Clinics
;
78: 100285, 2023. tab, graf
Artigo
em Inglês
|
LILACS-Express
| LILACS
| ID: biblio-1520692
ABSTRACT
Abstract Introduction:
Long QT Syndrome (LQTS) is an inherited disease with an abnormal electrical conduction system in the heart that can cause sudden death as a result of QT prolongation. LQT2 is the second most common subtype of LQTS caused by loss of function mutations in the potassium voltage-gated channel subfamily H member 2 (KCNH2) gene. Although more than 900 mutations are associated with the LQTS, many of these mutations are not validated or characterized. Methods andresults:
Sequencing analyses of genomic DNA of a family with LQT2 identified a putative mutation. i.e., KCNH2(NM_000238.3) c.3099_3112del, in KCNH2 gene which appeared to be a definite pathogenic mutation. The family pedigree information showed a gender difference in clinical features and T-wave morphology between male and female patients. The female with mutation exhibited recurring ventricular arrhythmia and syncope, while two male carriers did not show any symptoms. In addition, T-wave in females was much flatter than in males. The female proband showed a positive reaction to the lidocaine test. Lidocaine injection almost completely blocked ventricular arrhythmia and shortened the QT interval by ≥30 ms. Treatment with propranolol, mexiletine, and implantation of cardioverter-defibrillators prevented the sustained ventricular tachycardia, ventricular fibrillation, and syncope, as assessed by a 3-year follow-up evaluation.Conclusions:
A putative mutation c.3099_3112del in the KCNH2 gene causes LQT2 syndrome, and the pathogenic mutation mainly causes symptoms in female progeny.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Idioma:
Inglês
Revista:
Clinics
Assunto da revista:
Medicina
Ano de publicação:
2023
Tipo de documento:
Artigo
/
Documento de projeto
País de afiliação:
China
/
Estados Unidos
Instituição/País de afiliação:
Hubei University of Medicine/CN
/
Taihe Hospital Hubei University of Medicine/CN
/
University of Missouri School of Medicine/US
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