Abstract：
BACKGROUND: >40% of infants with Alström Syndrome (AS) present with a transient, severe cardiomyopathy in the first months of life, with apparent recovery in survivors. One in five individuals then develop a later-onset cardiomyopathy but wide clinical variability is observed, even within the same family. The rationale for this study is to provide a comprehensive evaluation of the cardiovascular phenotype in adults with AS.
METHODS: Adults attending the National Centre for AS in England were studied. All patients underwent biochemical, 12- lead electrocardiography, echocardiography, and cardiovascular magnetic resonance imaging.
RESULTS: 47 adults with AS (64% male; mean age 33 years; 66% white British) were studied. Seven (15%) survived infantile cardiomyopathy and 23 (49%) developed adult-onset cardiomyopathy. Conventional risk factors for cardiovascular disease were present in 39 (83%). Abnormalities were present on biomarkers in 16 (34%), ECG 30 (64%), echocardiography 19 (40%) and CMR 31 (66%). Coronary artery imaging was performed in six (13%), with abnormalities in two. Cardiac, renal, and liver markers were more often impaired in older patients, with impaired left ventricular ejection fraction, reduced global longitudinal strain and late enhancement. 6 (13%) had severe pulmonary hypertension (mean pulmonary artery pressure 46 mmHg) due to left heart disease on invasive testing.
CONCLUSIONS: Cardiomyopathy is common in adults with AS, complicated in a significant proportion by atherosclerotic coronary artery disease and restrictive cardiomyopathy, confirmed on CMR and invasive testing. With advancing age, cardiovascular complications are compounded by contemporaneous renal and liver disease.
METHODS: Adults attending the National Centre for AS in England were studied. All patients underwent biochemical, 12- lead electrocardiography, echocardiography, and cardiovascular magnetic resonance imaging.
RESULTS: 47 adults with AS (64% male; mean age 33 years; 66% white British) were studied. Seven (15%) survived infantile cardiomyopathy and 23 (49%) developed adult-onset cardiomyopathy. Conventional risk factors for cardiovascular disease were present in 39 (83%). Abnormalities were present on biomarkers in 16 (34%), ECG 30 (64%), echocardiography 19 (40%) and CMR 31 (66%). Coronary artery imaging was performed in six (13%), with abnormalities in two. Cardiac, renal, and liver markers were more often impaired in older patients, with impaired left ventricular ejection fraction, reduced global longitudinal strain and late enhancement. 6 (13%) had severe pulmonary hypertension (mean pulmonary artery pressure 46 mmHg) due to left heart disease on invasive testing.
CONCLUSIONS: Cardiomyopathy is common in adults with AS, complicated in a significant proportion by atherosclerotic coronary artery disease and restrictive cardiomyopathy, confirmed on CMR and invasive testing. With advancing age, cardiovascular complications are compounded by contemporaneous renal and liver disease.
摘要：
背景：>40％的Alström综合征（AS）婴儿存在短暂性，严重的心肌病在生命的头几个月，幸存者明显康复。五分之一的人随后发展为迟发性心肌病，但观察到广泛的临床变异性，即使在同一个家庭里。这项研究的基本原理是对成人AS患者的心血管表型进行全面评估。
方法：研究了在英格兰国家AS中心就诊的成年人。所有患者均接受生化检查，12导联心电图，超声心动图,和心血管磁共振成像。
结果：研究了47名患有AS的成年人（64％为男性；平均年龄33岁；66％为英国白人）。7例（15％）在婴儿心肌病中幸存下来，23例（49％）发展为成人发作性心肌病。39例（83%）存在心血管疾病的常规危险因素。16位（34%）的生物标志物存在异常，心电图30（64%），超声心动图19(40%)和CMR31(66%)。6例（13%）进行了冠状动脉成像，有两个异常。心脏,肾,在老年患者中，肝脏标志物更容易受损，左心室射血分数受损，降低整体纵向应变和后期增强。6（13％）在侵入性测试中由于左心疾病而出现严重的肺动脉高压（平均肺动脉压46mmHg）。
结论：心肌病常见于成人AS，动脉粥样硬化性冠状动脉疾病和限制性心肌病占很大比例，在CMR和侵入性测试中确认。随着年龄的增长，同时发生的肾脏和肝脏疾病会加重心血管并发症。
方法：研究了在英格兰国家AS中心就诊的成年人。所有患者均接受生化检查，12导联心电图，超声心动图,和心血管磁共振成像。
结果：研究了47名患有AS的成年人（64％为男性；平均年龄33岁；66％为英国白人）。7例（15％）在婴儿心肌病中幸存下来，23例（49％）发展为成人发作性心肌病。39例（83%）存在心血管疾病的常规危险因素。16位（34%）的生物标志物存在异常，心电图30（64%），超声心动图19(40%)和CMR31(66%)。6例（13%）进行了冠状动脉成像，有两个异常。心脏,肾,在老年患者中，肝脏标志物更容易受损，左心室射血分数受损，降低整体纵向应变和后期增强。6（13％）在侵入性测试中由于左心疾病而出现严重的肺动脉高压（平均肺动脉压46mmHg）。
结论：心肌病常见于成人AS，动脉粥样硬化性冠状动脉疾病和限制性心肌病占很大比例，在CMR和侵入性测试中确认。随着年龄的增长，同时发生的肾脏和肝脏疾病会加重心血管并发症。
