Asymptomatic ventricular tachycardia: diagnostic pitfalls of Andersen-Tawil syndrome-a case report.
Eur Heart J Case Rep
; 2(3): yty083, 2018 Sep.
Article
em En
| MEDLINE
| ID: mdl-31020160
ABSTRACT
BACKGROUND:
Andersen-Tawil syndrome (ATS) is a rare arrhythmia disorder caused by a mutation in the KCNJ2 gene. Typical presentation includes a triad of cardiac arrhythmia, dysmorphia, and periodic paralysis. However, KCNJ2 mutations can mimic other disorders such as catecholaminergic polymorphic ventricular tachycardia (CPVT) making treatment challenging. CASESUMMARY:
A 9-year-old asymptomatic female patient presented with an irregular heart rate noted at a well-child visit. Physical examination revealed short stature and facial dysmorphism. An initial rhythm strip showed intermittent runs of non-sustained bidirectional ventricular tachycardia with a prolonged QT interval of 485 ms at rest. Exercise testing showed no significant increase in ectopy from baseline at higher heart rates. Cardiac imaging was normal, and the burden of ventricular ectopy was significantly reduced on a beta-blocker and Class IC antiarrhythmic combination. Genetic testing marked a D71N mutation in the KCNJ2 gene.DISCUSSION:
Clinical distinction between ATS and CPVT is a challenge. Genetic testing in the above patient attributed a likely pathogenic variant for both ATS and CPVT to a single D71N mutation in the KCNJ2 gene. Further evaluation revealed no clinical CPVT, emphasizing the need for cautious interpretation of genetic results in inherited arrhythmia disorders.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
Idioma:
En
Revista:
Eur Heart J Case Rep
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Estados Unidos