Zwężenie cieśni aorty i dwupłatkowa zastawka aortalna u dziewczynki z zespołem Turnera – opis przypadku

Tomasz Książczyk, *Agnieszka Tomik, Małgorzata Gołąbek-Dylewska

Summary
The authors present a case of a 4-year-old girl with Turner syndrome (kariotype 45XO). The diagnosis was established prenatally in amniopuncture. Characteristic dysmorphic features coexisting hands and feet lymphatic oedema have been already seen in a newborn period. Echocardiography revealed coarctation of the aorta and bicuspid aortic valve. The patient's condition remains stable without arterial hypertension during follow-up. She is also under endocrinological care due to short stature. Diseases of the cardiovascular system are a crucial factor affecting life expectancy of patients with Turner syndrome. The most common, affecting about 45% of patients are bicuspid aortic valve and coarctation of the aorta as in the described case. There is a risk of dilation and dissecting of the aorta because of the congenital heart defects and high prevalence of arterial hypertension. For that reason girls with Turner syndrome should undergo detailed cardiovascular system evaluation including echocardiography and MRI, and be assessed by pediatric cardiologist on a regular basis.

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