Atypical presentation of Andersen-Tawil syndrome: heart failure with reduced ejection without periodic paralysis or dysmorphic features
Background: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder caused by variants in the KCNJ2 gene. It is associated with periodic paralysis, dysmorphic features and cardiac arrhythmias. The syndrome exhibits incomplete penetrance, leading to a broad spectrum of clinical manifestat...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SMC MEDIA SRL
2024-12-01
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| Series: | European Journal of Case Reports in Internal Medicine |
| Subjects: | |
| Online Access: | https://www.ejcrim.com/index.php/EJCRIM/article/view/5029 |
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