Andersen Syndrome

A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential.

Also Known As:

Networked: 14 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Cardiac Arrhythmias (Arrythmia)
2.	Brugada Syndrome
3.	Paralysis (Palsy)
4.	Long QT Syndrome
5.	Jervell-Lange Nielsen Syndrome (Jervell and Lange-Nielsen Syndrome)

Experts

1.	Priori, Silvia G: 2 articles (05/2004 - 10/2003)
2.	Napolitano, Carlo: 2 articles (05/2004 - 10/2003)
3.	Gómez, Ricardo: 1 article (08/2010)
4.	Moraleda, Ignacio: 1 article (08/2010)
5.	Sánchez-Chapula, José Antonio: 1 article (08/2010)
6.	Dolz-Gaitón, Pablo: 1 article (08/2010)
7.	Gálvez, Enrique: 1 article (08/2010)
8.	Tamargo, Juan: 1 article (08/2010)
9.	Amorós, Irene: 1 article (08/2010)
10.	Duarte, Juan: 1 article (08/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Andersen Syndrome:

1.	Inwardly Rectifying Potassium Channels (Inward Rectifier Potassium Channels)IBA 01/01/2004 - "LQT5 by invalidating the Kcne1 K+ channel beta-subunit and the Andersen syndrome by invalidation of the KCNJ2 gene encoding for a cardiac inward rectifier K+ channel. " 02/01/2009 - "Mutations in Kir2.1 inwardly rectifying potassium channels are associated with Andersen syndrome, a disease characterized by potentially fatal cardiac arrhythmias. " 04/01/2006 - "Mutations in KCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1, have been identified in Andersen syndrome (or Andersen-Tawil syndrome), an inherited disorder characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. "
2.	PotassiumIBA 07/16/1999 - "Andersen syndrome is a rare entity and comprises potassium sensitive periodic paralysis, ventricular arrhythmia, and an unusual facial appearance; syncope and sudden death have also been reported. " 07/01/2005 - "Loss of function in the slow component of the delayed rectifier potassium current (I(Ks)) channels (KCNQ1, KCNE1), the rapid component of the potassium current (I(Kr)) channels (KCNH2, KCNE2) and the inward rectifier potassium current (I(Kl), Kir2.1) channel (KCNJ2) is linked to the LQTSs (type 1, 2, 5, 6, and 7 (Andersen syndrome)) and the JLNSs (type 1 and 2). "
3.	Andersen Tawil syndromeIBA 06/10/2003 - "Mutations in KCNJ2, the gene encoding the inward-rectifying K+ channel Kir2.1, cause the cardiac, skeletal muscle, and developmental phenotypes of Andersen-Tawil syndrome (ATS; also known as Andersen syndrome). " 04/01/2006 - "Mutations in KCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1, have been identified in Andersen syndrome (or Andersen-Tawil syndrome), an inherited disorder characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. "
4.	Polymorphic catecholergic ventricular tachycardiaIBA 05/01/2004 - "Thanks to the contribution of molecular genetics, the genetic bases, pathogenesis, and genotype-phenotype correlation of diseases--such as the long QT syndrome, the Brugada syndrome, progressive cardiac conduction defect (Lenegre disease), catecholaminergic polymorphic ventricular tachycardia, and Andersen syndrome--have been progressively unveiled and shown to have an extremely high degree of genetic heterogeneity. " 10/01/2003 - "Thanks to the contribution of molecular genetics, the genetic bases, the pathogenesis and genotype-phenotype correlation of diseases such as the Long QT syndrome, the Brugada Syndrome, the Progressive cardiac conduction defect (Lenegre disease), the Catecholaminergic Polymorphic Ventricular Tachycardia and Andersen Syndrome have been progressively unveiled and show an extremely high degree of genetic heterogeneity. "
5.	Kir2.1 channelIBA 04/15/2005 - "Short QT syndrome or Andersen syndrome: Yin and Yang of Kir2.1 channel dysfunction." 07/01/2005 - "Loss of function in the slow component of the delayed rectifier potassium current (I(Ks)) channels (KCNQ1, KCNE1), the rapid component of the potassium current (I(Kr)) channels (KCNH2, KCNE2) and the inward rectifier potassium current (I(Kl), Kir2.1) channel (KCNJ2) is linked to the LQTSs (type 1, 2, 5, 6, and 7 (Andersen syndrome)) and the JLNSs (type 1 and 2). "
6.	Potassium Channels (Potassium Channel)IBA 09/01/2007 - "Andersen syndrome (AS) is a rare genetic disease caused by mutations of the potassium channel Kir2.1 (KCNJ2). "
7.	Ion Channels (Ion Channel)IBA 12/01/2004 - "2. Mutations in cardiac ion channels have been identified as the basis of a wide range of inherited arrhythmia syndromes, including the congenital long QT syndromes, Brugada syndrome, Lenegre syndrome, Andersen's disease and familial atrial fibrillation. "
8.	Flecainide (Tambocor)FDA LinkGeneric 08/31/2010 - "Indeed, flecainide pharmacologically rescues R67W, but not R218W, channel mutations found in Andersen syndrome patients. " 08/31/2010 - "Flecainide, a widely used antiarrhythmic drug, exhibits ventricular proarrhythmic effects while effectively controlling ventricular arrhythmias associated with mutations in the gene encoding Kir2.1 channels that decrease I(K1) (Andersen syndrome). "
9.	Amiodarone (Amiodarona)FDA LinkGeneric 08/13/2002 - "Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome."
10.	Acetazolamide (Diamox)FDA LinkGeneric 08/13/2002 - "Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome."