Coincidence of Andersen–Tawil syndrome and Marfan syndrome: A case report
Copyright policy )Coincidence of Andersen–Tawil syndrome and Marfan syndrome: A case report
AbstractWe report on a 44‐year‐old woman with coincidence of two genetic disorders: Andersen–Tawil syndrome and Marfan syndrome. In both, life‐threatening arrhythmias could occur. A 44‐year‐old woman presented acute ascending aortic dissection with aortic arch involvement and chronic thoracic descending and abdominal aortic dissection. Clinical and genetic examination confirmed Marfan syndrome (MFS) diagnosis. Due to repolarization disorder in ECG and premature ventricular contractions in Holter ECG, the sequencing data were analyzed again and mutation in KCNJ2 gene was identified. The case showed that coincidence of Andersen–Tawil syndrome (ATS) and MFS did not provoke life‐threatening arrhythmias. Complication was rather caused by expression of FBN1 mutation.
- Institute of Cardiology Poland
- Wrocław Medical University Poland
- Medical University of Warsaw Poland
Adult, Andersen Syndrome, Aortic Aneurysm, Thoracic, Fibrillin-1, Multimorbidity, Risk Assessment, Severity of Illness Index, Marfan Syndrome, Aortic Dissection, Electrocardiography, Rare Diseases, Treatment Outcome, G Protein-Coupled Inwardly-Rectifying Potassium Channels, Mutation, Humans, Female, Genetic Predisposition to Disease, Potassium Channels, Inwardly Rectifying, Emergency Service, Hospital, Monitoring, Physiologic
Adult, Andersen Syndrome, Aortic Aneurysm, Thoracic, Fibrillin-1, Multimorbidity, Risk Assessment, Severity of Illness Index, Marfan Syndrome, Aortic Dissection, Electrocardiography, Rare Diseases, Treatment Outcome, G Protein-Coupled Inwardly-Rectifying Potassium Channels, Mutation, Humans, Female, Genetic Predisposition to Disease, Potassium Channels, Inwardly Rectifying, Emergency Service, Hospital, Monitoring, Physiologic
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