Hereditary connective tissue disease is known to cause aortic lesions at an early age. Familial aortic aneurysm/dissection is caused due to an ACTA2 mutation that affects smooth muscle structure. We present a case of a 15-year-old boy with a mild developmental disorder in whom no abnormalities were identified on previous physical examinations. The patient presented with severe left heart failure, extensive dissection from the ascending aorta to the common iliac artery, and myocardial and cerebral infarctions. He underwent an urgent Bentall surgery. Six months later, the patient underwent surgical reconstruction of the abdominal aorta from the aortic arch and returned to normal daily activities. Pathological examination demonstrated the absence of elastic fibers but presence of abundant reticular fibers and mucopolysaccharides from the tunica intima to the media. Genetic testing revealed a heterozygous missense variant of the ACTA2 gene. To the best of our knowledge, this is the first sporadic case of structurally abnormal smooth muscle organization resulting in clinical symptoms with no previously reported pathogenicity.

中文翻译：

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年轻患者的主动脉夹层和先前未报告的 ACTA2 错义变异突变：病例报告。

已知遗传性结缔组织病会在幼年时引起主动脉病变。家族性主动脉瘤/夹层是由影响平滑肌结构的 ACTA2 突变引起的。我们介绍了一名 15 岁男孩的病例，该男孩患有轻度发育障碍，之前的体检未发现任何异常。患者出现严重的左心衰竭、升主动脉至髂总动脉的广泛夹层以及心肌梗死和脑梗死。他接受了紧急本托手术。六个月后，患者接受了从主动脉弓开始的腹主动脉重建手术，并恢复了正常的日常活动。病理检查显示，从内膜到中膜不存在弹性纤维，但存在丰富的网状纤维和粘多糖。基因检测揭示了 ACTA2 基因的杂合错义变体。据我们所知，这是首例因平滑肌组织结构异常而导致临床症状且先前未报道致病性的散发病例。