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Left ventricular noncompaction in Sotos syndrome
Hugo R Martinez1, John W Belmont, William J Craigen
1Section of Pediatric Cardiology, Texas Children's Hospital, Houston, USA.
American Journal of Medical Genetics. Part A
|April 13, 2011
Summary
Sotos syndrome, a genetic overgrowth disorder, may be linked to left ventricular noncompaction (LVNC) cardiomyopathy. Early cardiac screening is recommended for Sotos syndrome patients to detect potential heart defects.
Area of Science:
- Genetics
- Cardiology
- Developmental Biology
Background:
- Sotos syndrome is an autosomal dominant disorder caused by NSD1 gene mutations, characterized by overgrowth and developmental delay.
- Left ventricular noncompaction (LVNC) is a rare genetic cardiomyopathy involving abnormal myocardial development.
- Cardiac manifestations of LVNC range from asymptomatic to severe heart failure.
Observation:
- Two unrelated patients presented with both Sotos syndrome and LVNC.
- This co-occurrence has not been previously reported in the literature.
- Diagnosis was confirmed by physical features, molecular analysis, and echocardiography.
Findings:
- The study identified two cases of concomitant Sotos syndrome and LVNC.
- This suggests a potential association between the NSD1 gene and cardiac development.
- The findings highlight a possible genetic link between these two conditions.
Implications:
- Patients diagnosed with Sotos syndrome should undergo cardiac evaluation for LVNC.
- This recommendation aims to facilitate early detection and management of potential cardiac defects.
- Further research is warranted to elucidate the genetic mechanisms underlying this association.
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