Literature DB >> 30672637

Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report.

Michalina Krych1, Joanna Ponińska2, Zofia T Bilińska3, Rafał Płoski4, Elżbieta K Biernacka1.   

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.
© 2019 Wiley Periodicals, Inc.

Entities:  

Keywords:  Andersen-Tawil syndrome; Marfan syndrome; long QT syndrome; thoracic aortic aneurysms and dissections

Mesh：

Substances：

Year:  2019        PMID： 30672637      PMCID： PMC6931863          DOI： 10.1111/anec.12624

Source DB:  PubMed          Journal:  Ann Noninvasive Electrocardiol        ISSN： 1082-720X            Impact factor:   1.468


  10 in total

1.  Prospective risk stratification of sudden cardiac death in Marfan's syndrome.

Authors:  Boris A Hoffmann; Meike Rybczynski; Thomas Rostock; Helge Servatius; Imke Drewitz; Daniel Steven; Ali Aydin; Sara Sheikhzadeh; Vivien Darko; Yskert von Kodolitsch; Stephan Willems
Journal:  Int J Cardiol       Date:  2012-06-26       Impact factor: 4.164

2.  A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome.

Authors:  Takahiro Doi; Takeru Makiyama; Takeshi Morimoto; Yoshisumi Haruna; Keiko Tsuji; Seiko Ohno; Masaharu Akao; Yoshiaki Takahashi; Takeshi Kimura; Minoru Horie
Journal:  Circ Cardiovasc Genet       Date:  2011-04-14

Review 3.  Marfan syndrome: an update of genetics, medical and surgical management.

Authors:  Yskert von Kodolitsch; Peter N Robinson
Journal:  Heart       Date:  2007-06       Impact factor: 5.994

Review 4.  Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report.

Authors:  Michalina Krych; Joanna Ponińska; Zofia T Bilińska; Rafał Płoski; Elżbieta K Biernacka
Journal:  Ann Noninvasive Electrocardiol       Date:  2019-01-23       Impact factor: 1.468

5.  Coexistence of Andersen-Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family.

Authors:  Michalina Jagodzińska; Małgorzata Szperl; Joanna Ponińska; Agnieszka Kosiec; Robert Gajda; Piotr Kukla; Elżbieta Katarzyna Biernacka
Journal:  Ann Noninvasive Electrocardiol       Date:  2015-06-24       Impact factor: 1.468

6.  Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype.

Authors:  Li Zhang; D Woodrow Benson; Martin Tristani-Firouzi; Louis J Ptacek; Rabi Tawil; Peter J Schwartz; Alfred L George; Minoru Horie; Gregor Andelfinger; Gregory L Snow; Ying-Hui Fu; Michael J Ackerman; G Michael Vincent
Journal:  Circulation       Date:  2005-05-23       Impact factor: 29.690

7.  A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.

Authors:  Yosuke Kokunai; Tomohiko Nakata; Mitsuru Furuta; Souhei Sakata; Hiromi Kimura; Takeshi Aiba; Masao Yoshinaga; Yusuke Osaki; Masayuki Nakamori; Hideki Itoh; Takako Sato; Tomoya Kubota; Kazushige Kadota; Katsuro Shindo; Hideki Mochizuki; Wataru Shimizu; Minoru Horie; Yasushi Okamura; Kinji Ohno; Masanori P Takahashi
Journal:  Neurology       Date:  2014-02-26       Impact factor: 9.910

8.  Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

Authors:  L Faivre; G Collod-Beroud; B L Loeys; A Child; C Binquet; E Gautier; B Callewaert; E Arbustini; K Mayer; M Arslan-Kirchner; A Kiotsekoglou; P Comeglio; N Marziliano; H C Dietz; D Halliday; C Beroud; C Bonithon-Kopp; M Claustres; C Muti; H Plauchu; P N Robinson; L C Adès; A Biggin; B Benetts; M Brett; K J Holman; J De Backer; P Coucke; U Francke; A De Paepe; G Jondeau; C Boileau
Journal:  Am J Hum Genet       Date:  2007-07-25       Impact factor: 11.025

9.  Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations.

Authors:  Ali Aydin; Baran A Adsay; Sara Sheikhzadeh; Britta Keyser; Meike Rybczynski; Claudia Sondermann; Christian Detter; Daniel Steven; Peter N Robinson; Jürgen Berger; Jörg Schmidtke; Stefan Blankenberg; Stephan Willems; Yskert von Kodolitsch; Boris A Hoffmann
Journal:  PLoS One       Date:  2013-12-13       Impact factor: 3.240

10.  Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

Authors:  J K Poninska; Z T Bilinska; M Franaszczyk; E Michalak; M Rydzanicz; E Szpakowski; A Pollak; B Milanowska; G Truszkowska; P Chmielewski; A Sioma; H Janaszek-Sitkowska; A Klisiewicz; I Michalowska; M Makowiecka-Ciesla; P Kolsut; P Stawinski; B Foss-Nieradko; M Szperl; J Grzybowski; P Hoffman; A Januszewicz; M Kusmierczyk; R Ploski
Journal:  J Transl Med       Date:  2016-05-04       Impact factor: 5.531
  10 in total
  1 in total

Review 1.  Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report.

Authors:  Michalina Krych; Joanna Ponińska; Zofia T Bilińska; Rafał Płoski; Elżbieta K Biernacka
Journal:  Ann Noninvasive Electrocardiol       Date:  2019-01-23       Impact factor: 1.468
  1 in total

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