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Cardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature

Part of: Echocardiography

Published online by Cambridge University Press:  13 August 2021

Yasemin Nuran Donmez Open the ORCID record for Yasemin Nuran Donmez [Opens in a new window] ,
Dilek Giray Open the ORCID record for Dilek Giray [Opens in a new window] ,
Serdar Epcacan Open the ORCID record for Serdar Epcacan [Opens in a new window] ,
Emine Goktas  and
Ebru Aypar Open the ORCID record for Ebru Aypar [Opens in a new window]
Yasemin Nuran Donmez*
Affiliation:
Department of Pediatric Cardiology, Van Training and Research Hospital, Van, Turkey
Dilek Giray
Affiliation:
Department of Pediatric Cardiology, Van Training and Research Hospital, Van, Turkey
Serdar Epcacan
Affiliation:
Department of Pediatric Cardiology, Van Training and Research Hospital, Van, Turkey
Emine Goktas
Affiliation:
Department of Medical Genetics, Van Training and Research Hospital, Van, Turkey
Ebru Aypar
Affiliation:
Department of Pediatric Cardiology, Hacettepe University Faculty of Medicine, Ankara, Turkey
*
Author for correspondence: Yasemin N. Donmez, Department of Pediatric Cardiology, Van Training and Research Hospital, Van, Turkey. Tel: +90 533 646 93 90. E-mail: [email protected].
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Abstract

Seckel syndrome is a very rare autosomal recessive disorder also known as bird headed dwarfism”. It is characterised by proportional short stature, low birth weight, dysmorphic facial appearance, and mental retardation. In addition to its dysmorphic features, skeletal, endocrine, gastrointestinal, haematologic, genitourinary, and nervous system has been involved. Cardiovascular features very rarely associate with Seckel syndrome. We report two patients with Seckel syndrome, one with dilated cardiomyopathy and the other with multiple ventricular septal defects. Dilated cardiomyopathy and isolated ventricular septal defect have not been previously reported in Seckel syndrome. Cardiovascular evaluation should be performed in all patients with Seckel syndrome. Early diagnosis of congenital and acquired heart diseases will reduce morbidity and mortality in these patients.

Keywords

Seckel syndromedilated cardiomyopathyventricular septal defectbird-headed dwarfismmicrocephaly
Type
Brief Report
Information
Cardiology in the Young , Volume 32 , Issue 3 , March 2022 , pp. 487 - 490
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Copyright
© The Author(s), 2021. Published by Cambridge University Press

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References

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