Andersen-Tawil Syndrome (ATS) is a rare disorder associated wit a prolonged QT syndrome and sudden death.
It may be associated with mutations at KCNJ2 and KCNJ5.
Chromosome locus: 17q24.3
Gene affected: KCNJ2
Protein affected: Kir2.1 (an inward rectifier potassium channel protein)
Chromosome locus: 11q24.3
Gene affected: KCNJ5
Protein affected: G protein-activated inward rectifier potassium channel 4
Inheritance: autosomal dominant or de novo
ECG features:
(1) prolonged QT interval
(2) ventricular arrhythmias
(3) torsades de pointes
(4) bigeminy
Clinical findings:
(1) periodic paralysis (episodic flaccid muscle weakness)
(2) fifth digit clinodactyly
(3) syndactyly
(4) short stature
(5) scoliosis
(6) palpitations and/or syncope
Facial features:
(1) low-set ears
(2) wide-spaced eyes
(3) small mandible
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Specialty: Cardiology, Genetics, Pharmacology, clinical, Clinical Laboratory
