■Alagille综合征(ALGS)是一种多系统疾病,涉及肝脏中至少三个系统,心,骷髅,脸,和眼睛。常见的心脏关联包括肺动脉狭窄/闭锁,房间隔缺损(ASD),室间隔缺损(VSD)和法洛四联症(ToF)。主动脉缩窄(CoA),肾和颅内动脉是Alagille综合征的常见受累血管。我们介绍了2例罕见的Alagille综合征心血管表现。案例描述。
一名25岁女性,有Alagille综合征病史,因进行性劳力性呼吸困难就诊于心脏病专家办公室,骨科,还有心悸.她在检查时心动过速,心尖舒张隆隆声。经胸超声心动图(TTE)显示左心室射血分数(LVEF)为60%,降落伞二尖瓣(PMV)伴有严重的二尖瓣狭窄。经食管超声心动图(TOE)显示腱索插入前外侧乳头状肌,重度二尖瓣狭窄,瓣膜面积为0.7cm。她被转诊为先天性心脏病专家,并接受了机器人二尖瓣置换术,症状有所改善。
■一名27岁女性患者,因进行性劳力性呼吸困难出现一年,患有Alagille综合征和顽固性高血压。她患有高血压,并在左胸骨上边界出现了新的2/6收缩期射血杂音。TTE显示LVEF为60%,肺动脉压为19mmHg。由于峰值梯度为38mmHg,怀疑左锁骨下动脉远端有CoA。心脏磁共振(CMR)成像排除了CoA,并注意到直径为13-14mm的降主动脉的弥漫性狭窄。患者被转诊至先天性心脏病专家进行进一步治疗。
■表现为二尖瓣狭窄和主动脉中综合征的PMV并不常见与Alagille综合征相关的异常。TTE,TOE和CMR在这些患者的诊断和治疗中起着关键作用。
结论:Alagille综合征(ALGS)是一种涉及肝脏的复杂多系统疾病,心,骷髅,脸,和眼睛。心血管受累发生在高达95%的患者中。常见的心脏关联包括肺动脉狭窄/闭锁,房间隔缺损(ASD),室间隔缺损(VSD)和法洛四联症(ToF)。表现为二尖瓣狭窄和主动脉中综合征的降落伞二尖瓣(PMV)通常不与ALGS相关。这里,我们提出了这种罕见的情况。
UNASSIGNED: Alagille syndrome (ALGS) is a multisystem disorder involving at least three systems among the liver, heart, skeleton, face, and eyes. Common cardiac associations include pulmonary artery stenosis/atresia, atrial septal defect (ASD), ventricular septal defect (VSD) and tetralogy of fallot (ToF). Coarctation of aorta (CoA), renal and intracranial arteries are commonly involved vessels in Alagille syndrome. We present two cases with rare cardiovascular manifestations of Alagille syndrome. Case description.
UNASSIGNED: A 25-year-old female with a history of Alagille syndrome presented to the cardiologist office for progressive exertional dyspnoea, orthopnoea, and palpitations. She was tachycardiac on examination and had an apical diastolic rumble. A transthoracic echocardiogram (TTE) showed a left ventricular ejection fraction (LVEF) of 60% and parachute mitral valve (PMV) with severe mitral stenosis. A transoesophageal echocardiogram (TOE) showed insertion of chordae into the anterolateral papillary muscle, severe mitral stenosis with a valve area of 0.7 cm. She was referred to a congenital heart disease specialist and underwent robotic mitral valve replacement with improvement in her symptoms.
UNASSIGNED: A 27-year-old female with known Alagille syndrome and resistant hypertension presented to the cardiologist office due to progressive exertional dyspnoea for a year. She was hypertensive and had a new 2/6 systolic ejection murmur along the left upper sternal border. TTE revealed an LVEF of 60% and pulmonary artery pressure of 19 mmHg. A CoA was suspected distal to the left subclavian artery due to a peak gradient of 38 mmHg. Cardiac magnetic resonance (CMR) imaging ruled out CoA, and diffuse narrowing of the descending thoracic aorta measuring 13-14 mm in diameter was noted. The patient was referred to a congenital heart disease specialist for further management.
UNASSIGNED: PMV presenting as mitral stenosis and mid-aortic syndrome are not commonly described anomalies in association with Alagille syndrome. TTE, TOE and CMR played a key role in diagnosis and management of these patients.
CONCLUSIONS: Alagille syndrome (ALGS) is a complex multisystem disorder involving the liver, heart, skeleton, face, and eyes. Cardiovascular involvement occurs in up to 95% of the patients.Common cardiac associations include pulmonary artery stenosis/atresia, atrial septal defect (ASD), ventricular septal defect (VSD) and tetralogy of fallot (ToF).A parachute mitral valve (PMV) presenting as mitral stenosis and mid-aortic syndrome is not commonly described anomalies in association with ALGS. Here, we present such rare cases.