Clinical case: Voluminous aortic dissection and syndrome of Marfan in its caricatural form

Abstract

origin linked to a mutation in the fibrillin-1 gene. His
prognosis is linked to cardiovascular attacks particularly
aortic dissection. We report the case of a 29 year old patient who presented a voluminous dissection on SDM. It’s
a patient consulted in our service for isolated, intermittent palpitation-free triggering or periodicity. Examination
revealed a sudden death in 3 members of his family: his
mother at the age of 63 years, 2 half brothers at the age of
35 years surroundings following sudden chest pain. These
pains occurred in context of physical effort and were
associated to a palpitions one. Cardiac auscultation was
a diastolic murmur in latero-sternal left 2-3/6e with a
burst of B2. Pulses were well received, leaping, symmetrical. He had an evocative facies including a dolichocephaly,
malar hypoplasia, and a rethrognathie with an overlap
of the teeth. Ophthalmic examination found a pupillary
slot by hypoplasia, a crystalline ectopia and myopia of-5
of the right eye. Trans-thoracic Doppler echocardiography highlighted a dissection of the aorta extending until
downstream of the origin of the aortic trunks. There was
a large aortic aneurysm initial reaching 82 mm in maximum diameter, severe aortic leakage with a dilated left
ventricle. The thoracic angioscan confirmed the aortic dissection of type A of Stanford with a fusiform aneurysm