Literature DB >> 21205420

Sudden death in a patient with Noonan syndrome.

Alper Aydin1, Mustafa S Yilmazer, Tayfun Gurol.   

Abstract

We report here the case of a 27-year-old woman with Noonan syndrome presenting with ventricular fibrillation. After successful defibrillation, echocardiography revealed hypertrophic cardiomyopathy associated with left ventricular outflow tract obstruction. Normal echocardiographic cardiac structure and function were reported 11 years ago. This case emphasises the importance of regular follow-up in patients with congenital disorders in which cardiac manifestations might develop in early adulthood or later.

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Year:  2010        PMID: 21205420     DOI: 10.1017/S1047951110001708

Source DB:  PubMed          Journal:  Cardiol Young        ISSN: 1047-9511            Impact factor:   1.093


  2 in total

1.  Noonan syndrome patient-specific induced cardiomyocyte model carrying SOS1 gene variant c.1654A>G.

Authors:  Narasimman Gurusamy; Sheeja Rajasingh; Vinoth Sigamani; Reshma Rajasingh; Dona Greta Isai; Andras Czirok; Douglas Bittel; Johnson Rajasingh
Journal:  Exp Cell Res       Date:  2021-02-04       Impact factor: 3.905

2.  Importance of genetic testing in unexplained cardiac arrest.

Authors:  Steffany Grondin; Brianna Davies; Julia Cadrin-Tourigny; Christian Steinberg; Christopher C Cheung; Paloma Jorda; Jeffrey S Healey; Martin S Green; Shubhayan Sanatani; Wael Alqarawi; Paul Angaran; Laura Arbour; Pavel Antiperovitch; Habib Khan; Richard Leather; Peter G Guerra; Lena Rivard; Christopher S Simpson; Martin Gardner; Ciorsti MacIntyre; Colette Seifer; Anne Fournier; Jacqueline Joza; Michael H Gollob; Guillaume Lettre; Mario Talajic; Zachary W Laksman; Jason D Roberts; Andrew D Krahn; Rafik Tadros
Journal:  Eur Heart J       Date:  2022-08-21       Impact factor: 35.855

  2 in total

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