Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.

Abstract

INTRODUCTION:

Andersen-Tawil syndrome (ATS) is a potassium channelopathy affecting cardiac and skeletal muscle. Periodic paralysis is a presenting symptom in some patients, whereas, in others, symptomatic arrhythmias or prolongation of QT in echocardiographic recordings will lead to diagnosis of ATS. Striking intrafamilial variability of expression of KCNJ2 mutations and rarity of the syndrome may lead to misdiagnosis.

METHODS:

We report 15 patients from 8 Polish families with ATS, including 3 with novel KCNJ2 mutations.

RESULTS:

All patients had dysmorphic features; periodic paralysis affected males more frequently than females (80% vs. 20%), and most attacks were normokalemic. Two patients (with T75M and T309I mutations) had aborted sudden cardiac death. An implantable cardioverter-defibrillator was utilized in 40% of cases.

CONCLUSIONS:

KCNJ2 mutations cause a variable phenotype, with dysmorphic features seen in all patients studied, a high penetrance of periodic paralysis in males and ventricular arrhythmia with a risk of sudden cardiac death.

• Authors: Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Piotr Pruszczyk, Katarzyna Bieganowska, Maria Miszczak-Knecht, Piotr Bienias, Krzysztof Szczałuba, Hsien-Yang Lee, Emily Quinn, Rafal Ploski, Anna Kaminska, Louis J Ptáček
• Journal: Muscle & nerve (Muscle Nerve) Vol. 51 Issue 2 Pg. 192-6 (Feb 2015) ISSN: 1097-4598 [Electronic] United States
• PMID: 24861851 (Publication Type: Journal Article)
• Copyright: © 2014 Wiley Periodicals, Inc.

Chemical References

• KCNJ2 protein, human
• Potassium Channels, Inwardly Rectifying

Topics

• Adolescent
• Adult
• Andersen Syndrome (complications, genetics, surgery)
• Child
• DNA Mutational Analysis
• Defibrillators, Implantable
• Echocardiography
• Female
• Genetic Predisposition to Disease (genetics)
• Heart Diseases (etiology, genetics, surgery)
• Humans
• Longitudinal Studies
• Male
• Mutation (genetics)
• Paralyses, Familial Periodic (etiology, genetics)
• Poland
• Potassium Channels, Inwardly Rectifying (genetics)
• Retrospective Studies
• Young Adult