How many lives does one have in Marfan syndrome?

Introduction: Marfan disease is an autosomal dominant genetic disorder caused by mutations of the fibrillin-1 gene (FBN-1) – 15q21.1, with multisystemic implications, associated with cardiovascular, musculoskeletal, ocular, cutaneous, pulmonary, neurological abnormalities. The estimated prevalence of Marfan syndrome varies from 1 to 5,000-10,000 individuals, with no predilection for race or gender. Marfan syndrome is one of the most common, potentially fatal diseases inherited in a mendelian manner, given the risk of aortic dissection and valvular complications in this patients.
Objective: The purpose of this case report is to show how several of the possible facets of this disease can occur in the same patient and need serial interventions due to their stepwise progression in a single individual.
Case presentation: We present the case of a 67 year old patient, diagnosed with Marfan syndrome at the time of an aortic dissection in 1997, with Bentall surgery (Carboseal 25 conduct) for dissected ascending aortic aneurysm, with mechanic prosthesis in aortic position (now normofunctional), needing at that time a percutaneous catheter drainage with Vaskutek 12 graft (actually thrombosed – CT scan march 2015), who also needed VVIR pacing for complete AV block after surgery (implantable pulse generators replaced in 2006 and 2015). After an eventless evolution until 2015, she developed symptoms due to mitral prolapse with severe mitral regurgitation and underwent MitraClip implantation. Of note, our patient had mild skeletal features of Marfan syndrome (mild scoliosis and reduced up-per segment/lower segment amplitude – 0.75), but no thumb and/or wrist sign, as well as no ocular changes. The systemic score was 2. The diagnosis of the patient as Marfan proband allowed also timely diagnosis in 2 nephews, of whom 1 already underwent preventive aortic root surgery for aneurysmal dilation beyond 45 mm.
Conclusions: T he present case reflects the complex evolution of Marfan disease patients, for whom life can be a continuous challenge due to the evolution of cardiovascular but also ocular or skeletal symptoms. Therefore close and continuous follow- up is essenti-al, taking into consideration the fact that both vascular and valvular manifestations are possible, both of which can manifest in a severe form at different life moments. Although the systemic score usually reflects the phe-notype, the outside doesn’t always embody the inside.

ISSN – online: 2734 – 6382
ISSN-L 1220-658X
ISSN – print: 1220-658X
The Romanian Journal of Cardiology is indexed by:
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CODE: 379
CME Credits: 10 (Romanian College of Physicians)
This work is licensed under a Creative Commons Attribution 4.0 International License.