Hostname: page-component-8448b6f56d-c4f8m Total loading time: 0 Render date: 2024-04-19T05:12:35.181Z Has data issue: false hasContentIssue false
  • English
  • Français

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: yaseminnurandonmez@gmail.com.
Get access Rights & Permissions [Opens in a new window]

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
Check for updates
Copyright
© The Author(s), 2021. Published by Cambridge University Press

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Seckel, HPG. Bird-Headed Dwarfs. C. C. Thomas, Springfield, IL, 1960, 241 p.Google Scholar
Yigit, G, Brown, KE, Kayserili, H, et al. Mutations in CDK5RAP2 cause Seckel syndrome. Mol Genet Genomic Med 2015; 3: 467–480.10.1002/mgg3.158CrossRefGoogle ScholarPubMed
Khetarpal, P, Das, S, Panigrahi, I, et al. Primordial dwarfism: overview of clinical and genetic aspects. Mol Genet Genomics 2016; 291: 1–15.10.1007/s00438-015-1110-yCrossRefGoogle ScholarPubMed
Faivre, L, Le Merrer, M, Lyonnet, S, et al. Clinical and genetic heterogeneity of Seckel syndrome. Am J Med Genet 2002; 112: 379–383.10.1002/ajmg.10677CrossRefGoogle ScholarPubMed
Arslan, D, Cimen, D, Guvenc, O, et al. A case of Seckel syndrome with tricuspid atresia. Genet Couns 2014; 25: 171–175.Google ScholarPubMed
Can, E, Bulbul, A, Uslu, S, et al. A case of Seckel syndrome with tetralogy of fallot. Genet Couns 2010; 21: 49–51.Google ScholarPubMed
Ucar, B, Kilic, Z, Dinleyici, EC, et al. Seckel syndrome associated with atrioventricular canal defect: a case report. Clin Dysmorphol 2004; 13: 53–55.10.1097/00019605-200401000-00017CrossRefGoogle ScholarPubMed
Ramasamy, C, Satheesh, S, Selvaraj, R. Seckel syndrome with severe sinus bradycardia. Indian J Pediatr 2015; 82: 292–293.10.1007/s12098-014-1568-3CrossRefGoogle ScholarPubMed
Unal, Y, Dogan, AT, Ozkose, Z, et al. Anesthetic management of a patient with Seckel syndrome and implanted pacemaker. Paediatr Anaesth 2008; 18: 676–677.10.1111/j.1460-9592.2008.02517.xCrossRefGoogle ScholarPubMed
Payne, F, Colnaghi, R, Rocha, N, et al. Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. J Clin Invest 2014; 124: 4028–4038.10.1172/JCI73264CrossRefGoogle ScholarPubMed
Silengo, M, Del Monaco, A, Linari, A, et al. Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies. Am J Med Genet 2001; 101: 275–278.10.1002/ajmg.1384CrossRefGoogle ScholarPubMed