Multiple spontaneous coronary artery ruptures and cardiac tamponade in vascular Ehlers-Danlos syndrome.
Multiple spontaneous coronary artery ruptures and cardiac tamponade in vascular Ehlers-Danlos syndrome.
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DOI：
10.1016/j.jccase.2010.09.002
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发表时间：
2011-02-01
影响因子：
--
通讯作者：
Kurabayashi, Masahiko
中科院分区：
文献类型：
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作者：
Ohyama, Yoshiaki;Iso, Tatsuya;Kurabayashi, Masahiko
我们报告一例45岁的女性ehers - danlos综合征（EDS） IV型，血管型，谁提出了多冠状动脉破裂导致心脏填塞。她在经动脉栓塞治疗右颈海绵状动脉瘘后不久突然出现胸痛。经胸超声心动图证实心包填塞和外壁运动不足。增强CT和经食管超声心动图排除主动脉夹层。冠状动脉造影显示右冠状动脉和左旋冠状动脉多处造影剂外渗。我们怀疑为EDS IV型，并在获得书面知情同意书后进行皮肤活检进行DNA和RNA分析。聚合酶链反应（PCR）和PCR产物测序显示COL3A1基因密码子85杂合错义突变，将甘氨酸转化为天冬氨酸，从而诊断为EDS IV型。据我们所知，这是第一例EDS IV型导致多处冠状动脉破裂的病例。
We report a case of a 45-year-old woman with Ehlers-Danlos syndrome (EDS) type IV, the vascular type, who presented with multiple coronary artery ruptures causing cardiac tamponade. She had sudden onset of chest pain soon after transarterial embolization for right carotid-cavernous fistula. Transthoracic echocardiography confirmed cardiac tamponade and hypokinetic inferolateral wall. Enhanced CT and transesophageal echocardiography ruled out aortic dissection. Coronary angiography showed contrast extravasation from multiple sites of the right coronary artery and left circumflex coronary artery. We suspected EDS type IV, and a skin biopsy for DNA and RNA analysis was done after taking written informed consent. Polymerase chain reaction (PCR) and sequencing of the PCR product showed a heterozygous missense mutation of codon 85 in the COL3A1 gene, which converted glycine to aspartic acid, and thus a diagnosis of EDS type IV was established. To our best knowledge, this is the first case of EDS type IV causing multiple coronary artery ruptures.