Ohyama Yoshiaki, Iso Tatsuya, Niño Adriana Carolina Vargas, Obokata Masaru, Takahashi Rieko, Okumura Wataru, Nakano Akihiko, Amano Masao, Naito Isao, Takatama Masamitsu, Kurabayashi Masahiko
Department of Medicine and Biological Science, Gunma University Graduate School of Medicine, 3-39-15 Showa-machi, Maebashi, Gunma 371-8511, Japan.
Education and Research Center, Gunma University Graduate School of Medicine, 3-39-15 Showa-machi, Maebashi, Gunma 371-8511, Japan.
J Cardiol Cases. 2010 Nov 12;3(1):e29-e32. doi: 10.1016/j.jccase.2010.09.002. eCollection 2011 Feb.
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 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.
我们报告一例45岁患有IV型埃勒斯-当洛综合征（EDS）（血管型）的女性病例，该患者出现多处冠状动脉破裂导致心脏压塞。她在经动脉栓塞治疗右颈动脉海绵窦瘘后不久突然出现胸痛。经胸超声心动图证实存在心脏压塞及下外侧壁运动减弱。增强CT和经食管超声心动图排除了主动脉夹层。冠状动脉造影显示右冠状动脉和左旋支冠状动脉多处有造影剂外渗。我们怀疑是IV型EDS，并在获得书面知情同意后进行了皮肤活检以进行DNA和RNA分析。聚合酶链反应（PCR）及PCR产物测序显示该基因第85密码子存在杂合错义突变，导致甘氨酸转变为天冬氨酸，从而确诊为IV型EDS。据我们所知，这是首例IV型EDS导致多处冠状动脉破裂的病例。
