Ultrasound Diagnosis of Marfan Syndrome Complicated by Barlow Disease With Mitral Annular Disjunction: A Case Report.
Xiao-Zheng Zhang, Xaio-Zhuo Wang, Dong-Ping Zheng et al.
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Case in brief
A 17-year-old male presented with six months of intermittent palpitations that had worsened acutely. Examination showed Marfanoid features, an irregular rhythm, and a systolic murmur with a mid-late click. Echocardiography identified aortic sinus dilation, bileaflet mitral valve prolapse with myxomatous degeneration, and a 13 mm mitral annular disjunction; transesophageal imaging showed sluggish left atrial appendage flow without thrombus. CTA confirmed an aortic root aneurysm and right hydronephrosis, while ECG showed paroxysmal atrial flutter. Marfan syndrome was diagnosed using Ghent criteria. After catheter ablation for flutter, he declined further proposed procedures and remained clinically stable at follow-up.
What made this case unusual
The case combined Marfan syndrome with Barlow disease and a 13 mm mitral annular disjunction, alongside paroxysmal atrial flutter and aortic root aneurysm.
Diagnostic / clinical pearl
In a patient with Marfanoid features and palpitations, echocardiography can identify associated aortic and mitral abnormalities, including mitral annular disjunction; ECG findings may also reveal an arrhythmia requiring assessment.