Andersen-Tawil syndrome with sex-specific phenotype: usefulness of the long exercise test
نویسندگان
چکیده
منابع مشابه
Andersen-Tawil Syndrome
Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the a subunit of the potassium channel Kir2.1, were identified in patients with ATS. To date, KCNJ2 is the only gene implicated in ATS, accounting for approximately 60% of cases. ATS is a unique channelopathy, and repres...
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 کاملThe exercise test in Andersen syndrome.
BACKGROUND Andersen syndrome is a rare form of periodic paralysis (PP) associated with dysmorphic features and potentially fatal cardiac dysrhythmias. To date, no electrodiagnostic abnormalities have been reported that can be used to confirm the presence of PP in this condition. OBJECTIVES To determine if the exercise test could be used to confirm the diagnosis of PP in Andersen syndrome. To ...
متن کاملVentricular Tachyarrhythmias in a Patient with Andersen-Tawil Syndrome
Andersen-Tawill syndrome (ATS), a rare autosomal dominant disorder, is characterized by periodic paralysis, dysmorphic features and cardiac arrhythmias. This syndrome is caused by mutations of KCNJ2 gene, which encodes inward rectifying potassium channel. Here, we report an 18-year-old girl who was presented with life-threatening cardiac arrhythmia and acute respiratory distress. She was diagno...
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ژورنال
عنوان ژورنال: Neurología (English Edition)
سال: 2020
ISSN: 2173-5808
DOI: 10.1016/j.nrleng.2019.09.007