Abstract
We 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.
Keywords:
Andersen-Tawil syndrome; Marfan syndrome; long QT syndrome; thoracic aortic aneurysms and dissections.
© 2019 Wiley Periodicals, Inc.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Adult
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Andersen Syndrome / complications
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Andersen Syndrome / diagnosis
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Andersen Syndrome / genetics*
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Aortic Aneurysm, Thoracic / diagnosis
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Aortic Aneurysm, Thoracic / etiology
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Aortic Aneurysm, Thoracic / surgery
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Aortic Dissection / diagnosis
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Aortic Dissection / etiology
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Aortic Dissection / surgery
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Electrocardiography
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Emergency Service, Hospital
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Female
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Fibrillin-1 / genetics*
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G Protein-Coupled Inwardly-Rectifying Potassium Channels / genetics
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Genetic Predisposition to Disease*
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Humans
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Marfan Syndrome / complications
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Marfan Syndrome / diagnosis
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Marfan Syndrome / genetics*
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Monitoring, Physiologic
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Multimorbidity
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Mutation
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Potassium Channels, Inwardly Rectifying / genetics*
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Rare Diseases
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Risk Assessment
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Severity of Illness Index
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Treatment Outcome
Substances
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FBN1 protein, human
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Fibrillin-1
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G Protein-Coupled Inwardly-Rectifying Potassium Channels
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KCNJ2 protein, human
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KCNJ5 protein, human
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Potassium Channels, Inwardly Rectifying