Open AccessCoincidence of Andersen–Tawil syndrome and Marfan syndrome: A case report
Author(s) -
Krych Michalina,
Ponińska Joanna,
Bilińska Zofia T.,
Płoski Rafał,
Biernacka Elżbieta K.
Publication year - 2019
Publication title -
annals of noninvasive electrocardiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.494
H-Index - 48
eISSN - 1542-474X
pISSN - 1082-720X
DOI - 10.1111/anec.12624
Subject(s) - medicine , marfan syndrome , aortic dissection , cardiology , aorta
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.