Glorioso John, Reeves Mark
Family Practice Residency Program, Tripler Army Medical Center, MCHK-FMR, 1 Jarrett White Road, Tripler AMC, HI 96859-5000, USA.
Curr Sports Med Rep. 2002 Apr;1(2):67-74. doi: 10.1007/s11932-002-0053-3.
Marfan syndrome is a common, preventable cause of sudden cardiac death in the athlete. It is an autosomal-dominant disorder of connective tissue with variable penetration that affects multiple organ systems. Aortic root aneurysm rupture or dissection is the most common cause of sudden death. A directed family and personal history, in addition to a search for characteristic physical stigmata, can optimize the screening of athletes during the preparticipation evaluation. Athletes who have pertinent findings on the preparticipation evaluation should undergo further diagnostic evaluation. Echocardiography is essential to rule out cardiovascular involvement in those suspected of having Marfan syndrome, and should be mandated when positive pertinent family or personal history is elicited or when cardiac abnormalities are detected. Fortunately, due to characteristic historic and clinical findings, Marfan syndrome can be detected early, allowing appropriate treatment and ultimately prevention of sudden death in affected athletes.
马凡综合征是运动员心源性猝死的常见且可预防的原因。它是一种常染色体显性结缔组织疾病，具有可变的外显率，会影响多个器官系统。主动脉根部动脉瘤破裂或夹层是猝死的最常见原因。除了寻找特征性身体体征外，详细的家族史和个人史有助于在参赛前评估中优化对运动员的筛查。在参赛前评估中有相关发现的运动员应接受进一步的诊断评估。超声心动图对于排除疑似患有马凡综合征者的心血管受累情况至关重要，当引出阳性的相关家族史或个人史或检测到心脏异常时，应强制进行超声心动图检查。幸运的是，由于具有特征性的病史和临床发现，马凡综合征能够早期被检测出来，从而得以进行适当治疗并最终预防受影响运动员的猝死。
