Literature DB >> 31040148

Acute myocardial infarction and haemodynamic stroke in a young patient with Bardet-Biedl syndrome.

Vijay Alexander1, Tina George1, Gifty Devarajan1, Anand Zachariah1.   

Abstract

A 28-year-old man diagnosed with diabetes mellitus and systemic hypertension presented with a medical history of sudden onset retrosternal discomfort followed by loss of consciousness and generalised tonic clonic seizures. Examination revealed obesity, polysyndactyly and retinal pigment dystrophy. He was diagnosed to have acute myocardial infarction and left posterior watershed infarct. He was also diagnosed to have Bardet-Biedl syndrome based on clinical features. He was managed symptomatically and is currently doing well on regular follow-up in the outpatient clinic. © BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.

Entities:  

Keywords:  cardiovascular medicine; genetics; metabolic disorders; obesity (nutrition); stroke

Mesh:

Substances:

Year:  2019        PMID: 31040148      PMCID: PMC6505971          DOI: 10.1136/bcr-2019-229788

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  17 in total

1.  Bardet-Biedl syndrome.

Authors:  Elizabeth Forsythe; Philip L Beales
Journal:  Eur J Hum Genet       Date:  2012-06-20       Impact factor: 4.246

2.  Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

Authors:  Olivier Imhoff; Vincent Marion; Corinne Stoetzel; Myriam Durand; Muriel Holder; Sabine Sigaudy; Pierre Sarda; Christian P Hamel; Christian Brandt; Hélène Dollfus; Bruno Moulin
Journal:  Clin J Am Soc Nephrol       Date:  2010-09-28       Impact factor: 8.237

3.  A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

Authors:  Maxence V Nachury; Alexander V Loktev; Qihong Zhang; Christopher J Westlake; Johan Peränen; Andreas Merdes; Diane C Slusarski; Richard H Scheller; J Fernando Bazan; Val C Sheffield; Peter K Jackson
Journal:  Cell       Date:  2007-06-15       Impact factor: 41.582

4.  The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population.

Authors:  Safa Mujahid; Katharine F Hunt; Yee S Cheah; Elizabeth Forsythe; Jonathan M Hazlehurst; Kathryn Sparks; Shehla Mohammed; Jeremy W Tomlinson; Stephanie A Amiel; Paul V Carroll; Phillip L Beales; Mohammed S B Huda; Barbara M McGowan
Journal:  J Clin Endocrinol Metab       Date:  2018-05-01       Impact factor: 5.958

5.  New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

Authors:  P L Beales; N Elcioglu; A S Woolf; D Parker; F A Flinter
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

Review 6.  Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney.

Authors:  Audrey Putoux; Tania Attie-Bitach; Jéléna Martinovic; Marie-Claire Gubler
Journal:  Pediatr Nephrol       Date:  2011-01-19       Impact factor: 3.714

Review 7.  [Bardet-Biedl syndrome].

Authors:  C Rooryck; D Lacombe
Journal:  Ann Endocrinol (Paris)       Date:  2008-11-18       Impact factor: 2.478

8.  BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response.

Authors:  Vincent Marion; Anaïs Mockel; Charlie De Melo; Cathy Obringer; Aurélie Claussmann; Alban Simon; Nadia Messaddeq; Myriam Durand; Luc Dupuis; Jean-Philippe Loeffler; Peter King; Catherine Mutter-Schmidt; Nikolai Petrovsky; Corinne Stoetzel; Hélène Dollfus
Journal:  Cell Metab       Date:  2012-09-05       Impact factor: 27.287

9.  Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.

Authors:  E Forsythe; K Sparks; B E Hoskins; E Bagkeris; B M McGowan; P V Carroll; M S B Huda; S Mujahid; C Peters; T Barrett; S Mohammed; P L Beales
Journal:  Clin Genet       Date:  2014-04-08       Impact factor: 4.438

10.  Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.

Authors:  Seongjin Seo; Deng-Fu Guo; Kevin Bugge; Donald A Morgan; Kamal Rahmouni; Val C Sheffield
Journal:  Hum Mol Genet       Date:  2009-01-15       Impact factor: 6.150

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