Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report.
Ann Noninvasive Electrocardiol
; 24(3): e12624, 2019 05.
Article
em En
| MEDLINE
| ID: mdl-30672637
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Predisposição Genética para Doença
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Canais de Potássio Corretores do Fluxo de Internalização
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Síndrome de Andersen
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Fibrilina-1
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Síndrome de Marfan
Tipo de estudo:
Diagnostic_studies
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Etiology_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Adult
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Female
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Humans
Idioma:
En
Revista:
Ann Noninvasive Electrocardiol
Assunto da revista:
CARDIOLOGIA
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Polônia