en تخصصي Special گزارش مورد case report <p class="MsoNormal" style="line-height: 14pt direction: ltr unicode-bidi: embed"><span style="font-family:times new roman;"><span style="color:#008080;"><b><i>Introduction</i></b><b><i>:</i></b></span><span style="font-size: 10pt"> 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.</span></span><span style="font-size: 10pt"><!--stripped--><!--stripped--></span></p> <p class="MsoNormal" style="line-height: 14pt direction: ltr unicode-bidi: embed"><span style="font-family:times new roman;"><span style="color:#008080;"><b><i>Case report:</i></b><span style="font-size: 10pt">&nbsp;</span></span><span style="font-size: 10pt">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.</span></span><span style="font-size: 10pt"><!--stripped--><!--stripped--></span></p> <p class="MsoNormal" style="line-height: 14pt direction: ltr unicode-bidi: embed"><span style="font-family:times new roman;"><span style="color:#008080;"><b><i>Conclusions:</i></b><span style="font-size: 10pt">&nbsp;</span></span><span style="font-size: 10pt">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.</span></span><span style="font-size: 10pt"><span dir="RTL" lang="AR-SA"><!--stripped--><!--stripped--></span></span></p> Arterial Tortuosity Syndrome, Diaphragmatic Hernia, Axis Deviation 28 30 http://caspianjp.ir/browse.php?a_code=A-10-28-1&slc_lang=en&sid=1 Hassan Zamani 1003194753284600819 1003194753284600819 No Non-Communicable Pediatric Diseases Research Center Mohammad Goodarzi 1003194753284600820 1003194753284600820 No Gorgan University of Medical sciences Kazem Babazadeh kbabazadeh@hotmail.com 1003194753284600821 1003194753284600821 Yes Non-Communicable Pediatric Diseases Research Center Mohaddese Mirzapour 1003194753284600822 1003194753284600822 No Faculty of Traditional Iranian Medicine