Petitalot J P, Chaix A F, Rousseau G, Barraine R
Rev Med Interne. 1987 Jan-Feb;8(1):27-36. doi: 10.1016/s0248-8663(87)80104-2.
The purpose of this study of 6 cases of Marfan's or Marfan-like syndrome detected in 7077 echocardiographic examinations was to investigate the clinical value of echocardiography. The mean age of the patients was 40 years, and 4 of them (66 p. 100) were female. The diagnosis was based on the 4 criteria of Marfan's syndrome in 1 case, on 3 criteria in 2 cases and on 2 criteria in 3 cases. Four patients were known to have a previous cardiac murmur. Auscultation revealed a systolic murmur of mitral regurgitation in 3 cases (associated with a diastolic murmur of aortic regurgitation in 2 of them), a diastolic murmur of aortic regurgitation in 3 cases and a systolic murmur due to calcified bicuspid aortic valve in 1 case. ECG recorded a normal rhythm in 4 cases, atrial fibrillation in 2 cases of mitral regurgitation, and left ventricular hypertrophy in 3 cases. Chest X-ray showed cardiomegaly in 3 patients and severe kyphoscoliosis in one. Echocardiography visualized dilatation of the ascending aorta, severe (60 mm) in 1 case, in 3 patients; dilatation of the pulmonary artery in 1 patient; pansystolic mitral valve prolapse in 3 patients (associated with aortic and tricuspid valve prolapse in 2 of them after the disease had progressed); isolated aortic valve prolapse due to bicuspid valve in 2 patients; intracardiac calcifications in 3 patients; subaortic septal hypertrophy in 1 patient and calcified incompetent foramen ovale in 1 patient. Aortography performed in 3 patients disclosed an aneurysm of Valsalva's sinuses in 1 case and a mild aortic insufficiency in 2 cases. Two patients underwent cardiac catheterization for severe mitral regurgitation due to mitral valve prolapse requiring valve replacement, which was successfully done. Thus, echocardiography may provide an early diagnosis of Marfan's syndrome, since cardiovascular abnormalities are frequent in infancy. It also ensures a close follow-up of the disorders and it is useful in deciding whether treatment should be medical or surgical. It may detect formes frustes in a family with Marfan's syndrome, and it may define a borderline group of patients: those with Marfan-like syndrome. In these patients the cardiovascular lesions are more preponderant and appear later than in the classical Marfan's syndrome; they are often difficult to differentiate from the lesions of Barlow's syndrome.
本研究在7077例超声心动图检查中发现6例马方综合征或类马方综合征患者，目的是探讨超声心动图的临床价值。患者的平均年龄为40岁，其中4例（66%）为女性。诊断依据为1例符合马方综合征的4条标准，2例符合3条标准，3例符合2条标准。4例患者既往有心脏杂音。听诊发现3例有二尖瓣反流的收缩期杂音（其中2例伴有主动脉瓣反流的舒张期杂音），3例有主动脉瓣反流的舒张期杂音，1例有钙化性二叶主动脉瓣导致的收缩期杂音。心电图显示4例心律正常，2例二尖瓣反流患者有房颤，3例有左心室肥厚。胸部X线显示3例患者心脏扩大，1例有严重脊柱后凸侧弯。超声心动图显示升主动脉扩张，1例严重（60mm），3例患者有扩张；1例患者肺动脉扩张；3例患者全收缩期二尖瓣脱垂（其中2例在病情进展后伴有主动脉瓣和三尖瓣脱垂）；2例患者因二叶瓣导致孤立性主动脉瓣脱垂；3例患者有心内钙化；1例患者有主动脉下间隔肥厚，1例患者有钙化的卵圆孔未闭。3例患者进行了主动脉造影，1例发现瓦氏窦瘤，2例有轻度主动脉瓣关闭不全。2例因二尖瓣脱垂导致严重二尖瓣反流需要瓣膜置换的患者接受了心导管检查，并成功完成了手术。因此，超声心动图可对马方综合征进行早期诊断，因为心血管异常在婴儿期很常见。它还能确保对疾病进行密切随访，有助于决定是采用内科治疗还是外科治疗。它可以在马方综合征家族中检测出顿挫型病例，还可以界定一组临界患者：类马方综合征患者。在这些患者中，心血管病变比经典马方综合征更为突出，且出现较晚；它们常常难以与巴洛综合征的病变相鉴别。
