Allen J M, Thompson G R, Myant N B, Steiner R, Oakley C M
Br Heart J. 1980 Oct;44(4):361-8. doi: 10.1136/hrt.44.4.361.
Seven patients with homozygous familial hypercholesterolaemia, two female and five male, aged 12 to 25 years, underwent clinical and angiographic assessment to define the associated cardiovascular abnormalities. Four patients had angina, two of whom also had syncope on exertion. All had an ejection systolic murmur but no ejection click and a loud aortic second sound. All but one had a systolic gradient between the left ventricle and aorta, ranging from 20 to 80 mmHg at the time of presentation. Angiography showed a characteristic narrowing of the aortic root in all and five of the seven patients had coronary ostial stenosis. One patient died after an aortocoronary bypass and aortic valvotomy and two others underwent aortocoronary bypass and aortic valve replacement, one of whom also died after operation. The survivor and three other patients are now undergoing regular plasma exchange and remain well. The seventh patient died suddenly before the latter form of treatment could be started. These findings confirm that premature, severe atheroma of the aortic valve and root is a characteristic feature of homozygous familial hypercholesterolaemia and carries a high mortality.
7例纯合子家族性高胆固醇血症患者，2例女性，5例男性，年龄12至25岁，接受了临床和血管造影评估，以确定相关的心血管异常情况。4例患者有胸痛症状，其中2例在运动时还出现晕厥。所有患者均有收缩期喷射性杂音，但无喷射音，且主动脉第二心音亢进。除1例患者外，所有患者左心室与主动脉之间均存在收缩期压差，就诊时压差范围为20至80 mmHg。血管造影显示，所有患者的主动脉根部均有特征性狭窄，7例患者中有5例存在冠状动脉开口狭窄。1例患者在接受主动脉冠状动脉搭桥术和主动脉瓣切开术后死亡，另外2例接受了主动脉冠状动脉搭桥术和主动脉瓣置换术，其中1例术后也死亡。幸存者和其他3例患者目前正在定期进行血浆置换，情况良好。第7例患者在开始后一种治疗方法之前突然死亡。这些发现证实，主动脉瓣和根部过早出现严重动脉粥样硬化是纯合子家族性高胆固醇血症的特征性表现，且死亡率很高。
