Andersen–Tawil syndrome: Report of 3 novel mutations and high risk of symptomatic cardiac involvement

Kostera‐Pruszczyk, Anna; Potulska‐Chromik, Anna; Pruszczyk, Piotr; Bieganowska, Katarzyna; Miszczak-Knecht, Maria; Bienias, Piotr; Szczałuba, Krzysztof; Lee, Hsien-Yang; Quinn, Emily A.; Płoski, Rafał; Kamińska, Anna; Ptáček, Louis J.

doi:10.1002/mus.24293

Cited by 20 publications

(17 citation statements)

References 26 publications

(34 reference statements)

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“…Although most cases seem to be associated with hypokalemia, several recent studies suggest normal potassium levels in patients with ATS. 1,6 Triggers of the paralytic episodes mainly include prolonged exercise, prolonged rest, rest after exercise, and emotional stress. Patients usually present with mild permanent proximal weakness.…”

Section: 2mentioning

confidence: 99%

Child Neurology: Andersen-Tawil syndrome

Almuqbil¹,

Srour

2015

Neurology

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Section: 2mentioning

confidence: 99%

Child Neurology: Andersen-Tawil syndrome

Almuqbil¹,

Srour

2015

Neurology

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“…Few studies reported data concerning ATS manifestation in both sexes. In one report, a high penetrance of periodic paralysis in males was shown [14]. Another study showed that Arg67Trp mutation in one family caused different symptoms in male and female subjects; females exhibited arrhythmias whereas males exhibited periodic paralysis [4].…”

Section: Discussionmentioning

confidence: 99%

Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias – Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene

Krych

Biernacka

Ponińska

et al. 2017

Journal of Cardiology

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Background Andersen-Tawil syndrome (ATS) is rare channelopathy caused by KCNJ2 mutation and probably KCNJ5. It is characterized by arrhythmias, neurological symptoms, and dysmorphic features. The present study retrospectively examined the characteristics of 11 unrelated families with ATS. Methods This study consisted of 11 probands positive for KCNJ2 variants and 33 family members (mean age 30.0 ± 17.3 years, female n=31). Additional genetic screening of 3 LQTS genes (KCNQ1, KCNH2, SCN5A) was performed in 9 families. Predictors of arrhythmias [premature ventricular beats > 2000/24 h, biventricular and polymorphic ventricular tachycardia (VT)], syncope, and/or cardiac arrest (CA) were evaluated. Results In KCNJ2 mutation carriers vs non-carriers (n=25 vs n=19) significant differences were observed in U-wave manifestations in V2–V4, Tpeak – Tend duration, QTUc duration (p<0.0001), dysmorphic features, and neurological symptoms. Compared to asymptomatic carriers (n=9), in those with arrhythmias and/or syncope and/or CA (n=16) micrognathia (p=0.004), periodic paralysis (p=0.019), palpitation (p=0.005), U-wave n V2–V4 (p=0.049) were more frequent; QTU (p=0.045) and Tpeak – Tend (p=0.014) were also longer (n=9). In the subgroup of carriers with syncope and/or cardiac arrest (n=10, 90% women), K897T-KCNH2 polymorphism (p=0.02), periodic paralysis (p=0.004), muscle weakness (p=0.04), palpitations (p=0.04), arrhythmias (biventricular VT, p=0.003; polymorphic VT, p=0.009) were observed more frequently. Tpeak – Tend duration was longer (p=0.007) and the percentage of patients with premature ventricular contraction >2000/24 hours was higher (p=0.005). Conclusion A higher risk of arrhythmia, syncope, and/or CA is associated with the presence of micrognathia, periodic paralysis, and prolonged Tpeak – Tend time. Our findings suggest that K897T may contribute to the occurrence of syncope.

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“…The altered levels of serum potassium that accompany the attacks can induce cardiac arrhythmia 5 . In ATS cardiac conduction abnormalities and potentially fatal ventricular arrhythmias can occur independently of the muscle symptoms 6,7 .…”

Section: Introductionmentioning

confidence: 99%