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

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, h...

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Bibliographic Details
Published in:Cardiology in the young 2022-03, Vol.32 (3), p.487-490
Main Authors: Donmez, Yasemin Nuran, Giray, Dilek, Epcacan, Serdar, Goktas, Emine, Aypar, Ebru
Format: Article
Language:English
Subjects:
Abnormalities, Multiple
Anomalies
Birth weight
Cardiac arrhythmia
Cardiomyopathy
Cardiomyopathy, Dilated
Cardiovascular Abnormalities - complications
Cardiovascular Abnormalities - diagnosis
Cardiovascular diseases
Chromosomes
Defects
Dilated cardiomyopathy
Dwarfism
Dwarfism - complications
Dyspnea
Ejection fraction
Facies
General Cardiology
Heart diseases
Heart failure
Heart rate
Hereditary diseases
Humans
Intellectual disabilities
Literature reviews
Low birth weight
Metabolism
Microcephaly
Morbidity
Mutation
Nervous system
Patients
Pulmonary arteries
Pulmonary hypertension
Veins & arteries
Ventricle
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Summary: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.
ISSN:1047-9511
1467-1107
DOI:10.1017/S1047951121003097