Format

Send to

Choose Destination
Isr Med Assoc J. 2008 Nov;10(11):809-11.

Identification of the gene causing long QT syndrome in an Israeli family.

Author information

1
Department of Medical Genetics, Rabin Medical Center (Beilinson Campus), Petah Tikva, Israel.

Abstract

BACKGROUND:

Long QT syndrome is an inherited cardiac disease, associated with malignant arrhythmias and sudden cardiac death.

OBJECTIVES:

To map and identify the gene responsible for LQTS in an Israeli family.

METHODS:

A large family was screened for LQTS after one of them was successfully resuscitated from ventricular fibrillation. The DNA was examined for suspicious loci by whole genome screening and the coding region of the LQT2 gene was sequenced.

RESULTS:

Nine family members, 6 males and 3 females, age (median and interquartile range) 26 years (13, 46), who were characterized by a unique T wave pattern were diagnosed as carrying the mutant gene. The LQTS-causing gene was mapped to chromosome 7 with the A614V mutation. All of the affected members in the family were correctly identified by electrocardiogram. Corrected QT duration was inversely associated with age in the affected family members and decreased with age.

CONCLUSIONS:

Careful inspection of the ECG can correctly identify LQTS in some families. Genetic analysis is needed to confirm the diagnosis and enable the correct therapy in this disease.

PMID:
19070294
[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for Israel Medical Association
Loading ...
Support Center