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Zamani H, Goodarzi M, Babazadeh K, Mirzapour M. Arterial tortuosity syndrome–A case report from Iran. CJP 2015; 1 (1) :28-30
URL: http://caspianjp.ir/article-1-23-fa.html
Arterial tortuosity syndrome–A case report from Iran. مجله کاسپین کودکان. 1393; 1 (1) :28-30

URL: http://caspianjp.ir/article-1-23-fa.html


چکیده:   (24117 مشاهده)

Introduction: Arterial tortuosity syndrome (ATS), an autosomal recessive rare connective tissue disorder characterized by tortuosity, elongation and stenosis in the large and medium sized arteries. It manifestations include vascular and nonvascular connective tissue related symptoms. In this literature we describe the first cases of ATS from Iran.

Case report: A six-months-old female was presented with a heart murmur in the right upper sternal edge that was followed up for diaphragmatic hernia repair. Positive sign include right axis deviation in electrocardiography (ECG), abnormal long and tortuous aortic arch with tortuosity of its branches in angiography, increased right ventricular pressure up to 60 mmHg and slight right ventricular hypertrophy with severe stenosis of pulmonary artery bifurcation.

Conclusions: ATS does not present with a unique set of clinical features and its manifestations depend on the mutation type. The most common presentation is tortuous artery and more report of this rare case can help to better diagnosis of ATS.

     
نوع مطالعه: گزارش مورد | موضوع مقاله: تخصصي

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