Dear Colleague,
I met with Mr. Bernard PETRIE, born on 17/09/1971, accompanied by his son Eliot born on 01/03/2006, for a genetic opinion after the discovery of dilation of the ascending aorta.
It should be noted that I had already seen his son Eliot in 2023 following the somewhat fortuitous detection of a slight aortic dilation at the level of the sinus of Valsalva measured according to his last echocardiogram in January 2024 at 36 mm, which corresponds to a Z-score (according to CAMPENS) of +2.7, thus relatively stable and not currently requiring treatment with beta-blockers.
At that time, I did not identify any clinical elements, particularly skeletal ones, in favor of a Marfan syndrome. I mainly suggested reviewing him a bit later and requesting a cardiac follow-up in his family.
Eliot is evolving quite satisfactorily with a sports practice (road cycling; about 70 km per week). He is currently in his final year of high school.
His examination is largely unchanged with a current height of 1.84 m, weight of 57 kg, and an A/H ratio of 1.01.

Regarding Mr. Bernard PETRIE, he has no particular medical-surgical history, notably no pneumothorax or ophthalmological anomalies aside from simple myopia.
On examination today, there are also no very evocative skeletal signs of Marfan syndrome, notably an absence of sternum anomalies, no arachnodactyly, no wrist or thumb signs, and no anomalies in the feet, skin, or mouth (normal uvula). His weight is 79 kg for a height of 1.84 m and a wingspan of 1.90 m, thus an A/H ratio of 1.03.
His recent echocardiogram shows a normal measurement at the level of the Valsalva at 39 mm but a slight dilation of the ascending aorta at 44 mm, corresponding to a Z-score (according to CAMPENS) of +3.4. Treatment with beta-blockers has been initiated and is currently well tolerated.
In total, there is a possible familial form of aortic dilation without very specific associated clinical signs. This reinforces the hypothesis of an underlying genetic factor, and I have therefore proposed a blood sample for Mr. PETRIE and his son for screening of the main genes responsible for aortic dilation (Bichat Hospital in Paris).
After signing the appropriate consents, a blood sample was taken during the consultation.
I will keep you informed, but the result times may take several months. In any case, cardiological follow-up is well established in this family.