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Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome.
- Source :
-
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc [Ann Noninvasive Electrocardiol] 2013 Sep; Vol. 18 (5), pp. 471-8. - Publication Year :
- 2013
-
Abstract
- Background: Andersen-Tawil syndrome (ATS) is a rare inherited multisystem disorder associated with mutations in KCNJ2 and low prevalence of life-threatening ventricular arrhythmias. Our aim was to describe the clinical course of ATS in a family, in which the proband survived aborted cardiac arrest (ACA) and genetic screening revealed a previously unknown mutation (c.271&#95;282del12[p.Ala91&#95;Leu94del]) in the KCNJ2 gene.<br />Methods: A cascade family screening was performed in a 5-generation family after identification of the KCNJ2 mutation in the proband. Subsequently, 10 of 21 screened individuals appeared to be mutation carriers (median age 38 [range 10-75] years, 3 female). Mutation carriers underwent clinical examination including biochemistry panel, cardiac ultrasound, Holter ECG, and exercise stress test.<br />Results: (1) At baseline, 2 patients had survived ACA, 3 had syncope or presyncopal attacks, and 2 reported palpitations. Exercise-induced nonsustained bidirectional ventricular tachycardia was documented in 4 patients, 2 received implantable cardioverter-defibrillators (ICD) for primary prevention and 2 for secondary prevention. (2) During follow-up, 1 primary prevention and 1 secondary prevention patient received in total 4 adequate ICD shocks. Life-threatening ventricular arrhythmias were documented during childhood in 5 of 10 mutation carriers. (3) All mutation carriers presented with characteristic mild dysmorphic features. Only 1 patient suffered from periodic paralysis. All had normal serum potassium level at repeated assessments and none had any other extracardiac disease manifestation.<br />Conclusion: Our findings suggest that the novel KCNJ2 mutation is associated with a predominantly cardiac phenotype of Andersen-Tawil syndrome with high propensity to life-threatening ventricular arrhythmias presenting from childhood and young adulthood.<br /> (©2013 Wiley Periodicals, Inc.)
- Subjects :
- Adolescent
Adult
Aged
Andersen Syndrome therapy
Child
Defibrillators, Implantable
Diagnosis, Differential
Electrocardiography methods
Female
Genetic Testing methods
Heart Arrest genetics
Heart Arrest prevention & control
Humans
Male
Middle Aged
Phenotype
Young Adult
Andersen Syndrome diagnosis
Andersen Syndrome genetics
Potassium Channels, Inwardly Rectifying genetics
Tachycardia, Ventricular genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1542-474X
- Volume :
- 18
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc
- Publication Type :
- Academic Journal
- Accession number :
- 24047492
- Full Text :
- https://doi.org/10.1111/anec.12074