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Cardiovascular malformations in Smith-Lemli-Opitz syndrome
A E Lin1, H H Ardinger, R H Ardinger
1Department of Pediatrics University of Kansas, Kansas City, USA.
American Journal of Medical Genetics
|January 31, 1997
Summary
Smith-Lemli-Opitz syndrome (SLOS) is linked to cardiovascular malformations (CVMs) in 44% of patients. The study classifies CVMs by embryonic mechanisms, revealing specific patterns in SLOS that impact cardiac development.
Area of Science:
- Genetics
- Developmental Biology
- Cardiology
Background:
- Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder with a complex phenotype.
- Cardiovascular malformations (CVMs) are a significant concern in SLOS patients.
- Understanding the mechanisms of CVMs in SLOS is crucial for clinical management and research.
Purpose of the Study:
- To investigate the types and frequencies of CVMs in patients with Smith-Lemli-Opitz syndrome.
- To classify CVMs based on underlying embryonic developmental mechanisms.
- To compare CVM frequencies in SLOS with a control population to identify specific developmental alterations.
Main Methods:
- Retrospective review of 215 patients with SLOS (59 new, 156 literature-based).
- Classification of CVMs according to five established embryonic mechanism categories.
- Statistical comparison of CVM frequencies in SLOS patients against the Baltimore-Washington Infant Study control group.
Main Results:
- 44% of SLOS patients exhibited CVMs.
- Class II (abnormal intracardiac blood flow) CVMs were most common (58.9%).
- Classes IV (abnormal extracellular matrix) and V (abnormal targeted growth) CVMs were significantly more frequent in SLOS compared to controls, while Class I (ectomesenchymal tissue migration) was less frequent.
Conclusions:
- CVMs in SLOS exhibit mechanistic heterogeneity, with a predominance of Class II defects.
- Developmental errors in SLOS appear to particularly affect mechanisms underlying atrioventricular canal defects and anomalous pulmonary venous return.
- Findings aid clinical geneticists in evaluating SLOS patients and guide future research into SLOS-related developmental mechanisms.