New Vascular Anomaly in a Girl With Turner Syndrome: Mid-Aortic Narrowing

Abstract

Turner syndrome is most frequently caused by X monosmy in girls due to nondisjunction during the first meiotic division in one of the parents. Other numeric and structural anomalies of X chromosome have also been described. Broad spectrum of hearth and grand vessels anomalies including coarctation of the aorta, bicuspid aortal valve, and aortal arch anomalies can occur in Turner syndrome. We present a girl with Turner syndrome accompanied by an uncommon anomaly of the aorta. The girl presented with a severe hypertension at the age of 6 years. Treatment with calcium channel blockers and ACE II inhibitor had a modest response. Chromosomal analysis was delayed due to the modest dysmorphic features and revealed X monosomy (45, X0). Exploring the etiology of the hypertension, assessment of the kidney function, aortography and renal angiography were performed. Mid-aortic narrowing syndrome (MAS) consisting of continuous narrowing of the aorta beginning from the elongated aortal arch towards the thoracic and abdominal part, with several hypoplastic and irregular renal arteries at the ports of the horseshoe kidney was confirmed. During the follow up, the girl presented other cardinal features of the Turner syndrome such as delayed growth and puberty as well as the Hashimoto thyroiditis and was treated accordingly. MAS is extremely rare in children, and, to our knowledge, has not been described previously in a patient with Turner syndrome. In conclusion, in addition to the aortic arch, evaluation of the whole length of the aorta should be recommended in girls with Turner syndrome.




J Med Cases. 2012;3(4):229-233
doi: https://doi.org/10.4021/jmc588w