Sotos syndrome

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

Cardiomyopathy

A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.


Total: 1

                      


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PMID (PMCID)
21484993
MALE Child
Left ventricular noncompaction in Sotos syndrome.
Martinez HR, Belmont JW, Craigen WJ, Taylor MD, Jefferies JL.
Am J Med Genet A. 2011;155A(5):1115-8.
In the light of these two cases, we suggest that patients with Sotos syndrome be evaluated for LVNC cardiomyopathy when being screened for heart defects.