Avtor/Urednik		Martinjak-Dvoršek, Irma; Leonardis, Lea
Naslov		Srčni zastoj pri bolniku z Andersenovim sindromom
Prevedeni naslov		Cardiac arrest in a patient with Andersen syndrome
Tip		članek
Vir		In: Gričar M, Vajd R, editors. Urgentna medicina: izbrana poglavja. Zbornik 13. mednarodni simpozij o urgentni medicini; 2006 jun 14-17; Portorož. Ljubljana: Slovensko združenje za urgentno medicino,
Leto izdaje		2006
Obseg		str. 323-5
Jezik		slo
Abstrakt		Introduction: Andersen syndrome is a rare hereditary disease caused by mutation in the KCNJ2 gene. This gene encodes the inward rectifier potassium channel 2 on the sarcolema of the heart and skeletal muscle cells. Disease is inherited in autosomal dominant manner. More then 50% of cases are caused by de-novo mutations. Andersen syndrome is characterized by a triad of periodic paralysis, dysmorphic features and ventricular arrhythmias due to long QT interval. Case report: During the exercise in fitness club 35 years old man suffered a cardiac arrest. After a successful resuscitation an ECG, Holter electrocardiography, echocardiography, coronary angiography with cardiac catheterisation and electrophysiologic study were performed. No structural heart disease was found. An automatic cardioverter defibrillator was implanted. After two years periodic muscular pains and flaccid muscle weakness developed. Serum potassium concentration during episodes of weakness was reduced. With molecular genetic testing the mutation in the 71. codon (Asp71 His) of the KCNJ2 gene was found that confirmed the diagnosis of Andersen syndrome. Conclusion: In the patients with flaccid muscle weakness or paralysis, who also may have some dysmorphic features, long QT syndrome is possible. With the early proper identification, some dangerous cardiac events could be prevented.
Deskriptorji		GLYCOGEN STORAGE DISEASE TYPE IV HEART ARREST ADULT