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

Donmez Y. N., Giray D., Epcacan S., Goktas E., AYPAR E.

Cardiology in the Young, vol.32, no.3, pp.487-490, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 3
  • Publication Date: 2022
  • Doi Number: 10.1017/s1047951121003097
  • Journal Name: Cardiology in the Young
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.487-490
  • Keywords: Seckel syndrome, dilated cardiomyopathy, ventricular septal defect, bird-headed dwarfism, microcephaly
  • Hacettepe University Affiliated: Yes


© 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.