The paper discusses the clinical case of a 26 year-old pacient, diagnosed, as early as the age of 10 years, with a valvular pathology (at that time, objective reasons preventing the development ofadditional investigations on its etiology and recommended treatment).
In January 2012, the patient suffers two tachyarhythmic episodes, during a longer trip, while driving his car and, next February, a routine stomatological exam evidences an ogival palatine arch and malar hypoplasia, so that a cardiological consultation follows. Clinical examination revealed a longiline status, arachnodactylia, pectus excavatum and telesystolic mitral murmur. Echocardiographic examination evidences prolapse of anterior mitral valve and mild secondary anterior mitral regurgitation, dilatation of the ascending aorta and mild aortic regurgitation.
The suspicion of Marfan syndrome, based on the Ghent criteria, revised in 2010, was confirmed.
Treatment with betablocking drugs (Bisoprolol) was recommended. Patient’s evolution was favourable.
- malar hypoplasia
- Marfan syndrome
- mitral valve prolapse
- systemic score
- Z score