Hypokalemic periodic paralysis, facial dysmorphism and ventricular arrhythmia (clinical triad of Andersen-Tawil syndrome).
نویسندگان
چکیده
Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead). We report a case of hypokalemic periodic paralysis with dysmorphic facial features and ventricular arrhythmia resembling Andersen-Tawil syndrome.
منابع مشابه
Clinodactyly and syndactyly - diagnostic clues for Andersen-Tawil syndrome.
A 38-year-old man was diagnosed, at the age of 18, with SCN4A-negative hyperkalaemic periodic paralysis. The diagnosis remained unchanged until his 8-year-old daughter suffered an exercise-induced syncope. Her EKG showed a polymorphic ventricular tachycardia. Patient’s hands and feet, previously overlooked, became “neurologically” relevant since they were characteristic of Andersen-Tawil syndro...
متن کاملChild neurology: Andersen-Tawil syndrome.
Andersen-Tawil syndrome (ATS) is one of the periodic paralyses. This autosomal dominant disorder was initially named after Andersen, who in 1971 reported the case of a young boy presenting with intermittent muscle weakness, ventricular arrhythmias, and other developmental abnormalities. It was subsequently renamed Andersen-Tawil syndrome following the additional work of Dr. Rabi Tawil. Periodic...
متن کاملElectrocardiogram in Andersen-Tawil Syndrome. New Electrocardiographic Criteria for Diagnosis of Type-1 Andersen-Tawil Syndrome
Andersen - Tawil syndrome (ATS) is an autosomal - dominant or sporadic disorder characterized by ventricular arrhythmias, periodic paralysis, and distinctive facial and skeletal dysmorphism. Mutations in KCNJ2, which encodes the α-subunit of the potassium channel Kir2.1, were identified in patients with ATS. This genotype has been designated as type-1 ATS (ATS1). KCNJ2 mutations are detectable ...
متن کاملFunctional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).
Andersen syndrome (AS) is a rare, inherited disorder characterized by periodic paralysis, long QT (LQT) with ventricular arrhythmias, and skeletal developmental abnormalities. We recently established that AS is caused by mutations in KCNJ2, which encodes the inward rectifier K(+) channel Kir2.1. In this report, we characterized the functional consequences of three novel and seven previously des...
متن کاملAtrial pacing for the management of ventricular arrhythmias in Andersen-Tawil syndrome
Introduction Andersen-Tawil syndrome (ATS) is a rare autosomal dominant or sporadic disorder defined by a triad of periodic muscle paralysis, ventricular arrhythmias (long QT-7), and dysmorphic features. The estimated prevalence is 1 in 1,000,000. The underlying mutation is in the KCNJ2 gene encoding the inward rectifier potassium channels (Kir2.1) present in both skeletal and cardiac muscles. ...
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ورودعنوان ژورنال:
- The Journal of the Association of Physicians of India
دوره 60 شماره
صفحات -
تاریخ انتشار 2012