TY - JOUR
T1 - Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2
AU - Modoni, Anna
AU - Bianchi, Maria Laura Ester
AU - Vitulano, Nicola
AU - Pagliarani, Serena
AU - Perna, Francesco
AU - Sanna, Tommaso
AU - Rizzo, Valentina
AU - Silvestri, Gabriella
PY - 2012/3
Y1 - 2012/3
N2 - The Andersen-Tawil syndrome (ATS) is characterized by hypo-normokaliemic muscle periodic paralysis, dysmorphic features and ventricular arrhythmias. Most cases are caused by mutations in KCNJ2, encoding for the potassium inwardly rectifying channel, Kir2.1 (ATS1). Although KCNJ2 mutations show no obvious genotype-phenotype correlations and incomplete penetrance, signs of cardiac involvement are usually present in most ATS1 cases. In contrast, here we describe an Italian ATS1 patient, carrying a c.574A→G mutation in KCNJ2, who had both facial dysmorphisms and muscle periodic paralysis but who did not manifest any cardiac involvement, although the same mutation was originally described in a Japanese kindred, in which all affected individuals manifested a severe cardiac phenotype.
AB - The Andersen-Tawil syndrome (ATS) is characterized by hypo-normokaliemic muscle periodic paralysis, dysmorphic features and ventricular arrhythmias. Most cases are caused by mutations in KCNJ2, encoding for the potassium inwardly rectifying channel, Kir2.1 (ATS1). Although KCNJ2 mutations show no obvious genotype-phenotype correlations and incomplete penetrance, signs of cardiac involvement are usually present in most ATS1 cases. In contrast, here we describe an Italian ATS1 patient, carrying a c.574A→G mutation in KCNJ2, who had both facial dysmorphisms and muscle periodic paralysis but who did not manifest any cardiac involvement, although the same mutation was originally described in a Japanese kindred, in which all affected individuals manifested a severe cardiac phenotype.
KW - Andersen-Tawil syndrome
KW - Cardiac involvement
KW - KCNJ2
UR - http://www.scopus.com/inward/record.url?scp=84856170878&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84856170878&partnerID=8YFLogxK
U2 - 10.1159/000335529
DO - 10.1159/000335529
M3 - Article
C2 - 22286118
AN - SCOPUS:84856170878
VL - 120
SP - 200
EP - 203
JO - Cardiology
JF - Cardiology
SN - 0008-6312
IS - 4
ER -