Literature DB >> 33953479

Seckel syndrome presenting with complete heart block.

Mostafa Abohelwa1, Mohamed Elmassry1, Marina Iskandir2, Brandon Rogers1, Deephak Swaminath2.   

Abstract

Seckel syndrome is a rare autosomal recessive disorder characterized by facial dysmorphic features known as bird-headed dwarfism. Only about 100 cases have been reported. Cardiac anomalies have been described as a potential association with Seckel syndrome. We report a 21-year-old woman with Seckel syndrome and epilepsy who presented with status epilepticus. She was hypotensive and bradycardic. Her electrocardiogram showed complete heart block. She was placed on transcutaneous pacer with no response. A transvenous pacemaker was placed before inserting a suitable permanent pacemaker for her size. This is the third case of complete heart block associated with Seckel syndrome and raises concern about the potential association.
Copyright © 2021 Baylor University Medical Center.

Entities:  

Keywords:  Case report; Seckel syndrome; complete heart block

Year:  2021        PMID: 33953479      PMCID: PMC8059906          DOI: 10.1080/08998280.2020.1871265

Source DB:  PubMed          Journal:  Proc (Bayl Univ Med Cent)        ISSN: 0899-8280


  14 in total

1.  Seckel syndrome associated with atrioventricular canal defect: a case report.

Authors:  Birsen Ucar; Zübeyir Kilic; Ener Cagri Dinleyici; Ayten Yakut; Nesrin Dogruel
Journal:  Clin Dysmorphol       Date:  2004-01       Impact factor: 0.816

2.  A case of Seckel syndrome with Tetralogy of Fallot.

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3.  Anesthetic management of a patient with Seckel syndrome and implanted pacemaker.

Authors:  Yusuf Unal; Alper Tunga Dogan; Zerrin Ozkose; Ferda Koksal
Journal:  Paediatr Anaesth       Date:  2008-07       Impact factor: 2.556

Review 4.  [Seckel's syndrome associated with atrial septal defect: a case report and review of the literature in Japan].

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Journal:  Kyobu Geka       Date:  1991-05

5.  Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence?

Authors:  Ralph Rahme; Louis Crevier; Josée Dubois; Claude Mercier
Journal:  Childs Nerv Syst       Date:  2010-07       Impact factor: 1.475

6.  Seckel syndrome with severe sinus bradycardia.

Authors:  Chandramohan Ramasamy; Santhosh Satheesh; Raja Selvaraj
Journal:  Indian J Pediatr       Date:  2014-09-04       Impact factor: 1.967

7.  A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.

Authors:  Mark O'Driscoll; Victor L Ruiz-Perez; C Geoffrey Woods; Penny A Jeggo; Judith A Goodship
Journal:  Nat Genet       Date:  2003-03-17       Impact factor: 38.330

8.  [Cardiac symptoms in 2 patients with Seckel syndrome].

Authors:  U Rappen; A I von Brenndorff
Journal:  Monatsschr Kinderheilkd       Date:  1993-07       Impact factor: 0.323

9.  cDNA cloning and gene mapping of a candidate human cell cycle checkpoint protein.

Authors:  K A Cimprich; T B Shin; C T Keith; S L Schreiber
Journal:  Proc Natl Acad Sci U S A       Date:  1996-04-02       Impact factor: 11.205

10.  Ataxia-Telangiectasia Mutated Kinase: Role in Myocardial Remodeling.

Authors:  Patsy Thrasher; Mahipal Singh; Krishna Singh
Journal:  J Rare Dis Res Treat       Date:  2016-12-16
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  1 in total

1.  Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review.

Authors:  Osama Khojah; Saeed Alamoudi; Nouf Aldawsari; Mohammed Babgi; Ahmed Lary
Journal:  Childs Nerv Syst       Date:  2021-08-03       Impact factor: 1.475

  1 in total

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