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Common genetic disorders associated with heart disease
Echocardiographic screening in patients with genetic disease plays an important role in daily practice. Early detection of possible cardiac complications is essential and enables prompt treatment. Some disorders have very typical echocardiographic features. This chapter describes some of the most common genetic disorders associated with heart disease.
Williams syndrome
Williams syndrome is caused by a heterozygous deletion of a specific region of chromosome seven that contains, among others, the elastin gene. Affected patients have distinctive facial features, learning difficulties, and loose skin due to the reduced deposition of elastin. Cardiac abnormalities are present in the vast majority of cases and typically include supravalvar aortic stenosis, diffuse aortic hypoplasia, and stenotic lesions affecting the proximal and distal pulmonary arterial tree. Some patients also experience coronary artery involvement.
Noonan syndrome
Noonan syndrome has been associated with mutations in a number of genes. From a clinical point of view, the syndrome is characterized by facial dysmorphism, short stature, and chest deformities, but the phenotypic expression varies widely among patients. If present, cardiac defects typically include valvar pulmonary stenosis, hypertrophic cardiomyopathy, and atrial septal defects.
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