A case of Marfans syndrome with ascending and arch of aorta aneurysm presenting with type A-dissection of aorta

摘要

Introduction: Marfans syndrome is a hereditary disease which isautosomal dominant inheritance because of mutation in the fibrillin-1 gene, which effects connective tissue of the body, mainlyinvolves cardiovascular system, ocular and skeletal system. It isusually diagnosed with 2010 Revised Ghent Nosology with a scoreof more 7. The cardiovascular manifestation includes aortic rootand arch aneurysm with high risk of dissection (root diameter of>4.5 cm), mitral valve prolapse, aortic regurgitation secondary toroot dilatation, skeletal abnormalities scoliosis, pectus excavatum,positive thumb & wrist sign, ectopia lens.Case report: A female 40 years old patient presentedwith chest painretrosternal since 1 month, tearing type radiating neck and back ofchest associated with breathlessness of class 3 on examinationconscious and coherent pulse rate = 78/min felt in all limbs, bloodpressure 150/60mmofHg,CVS S1 S2+,ESM3/6andEDMheardon3rdleft intercostal area, MDM at the apex. ECG was showing LV volumeoverload, on 2D echo evaluation was showing aorta root showing4.78 cmwith severeAR good LV function. Patientwas evaluated withtrans-esophageal echo, chest X ray and CECT was diagnosed asascending and arch aneurysm with dissection of aorta type-A.Patient was referred to CT surgery dept for Benthal procedure.Discussion: The incidence of aortic dissection is estimated to be 2–3.5/10,000 persons per year and peak incidence at sixth andseventh decade with overall mortality 1%/h, patients with Marfanssyndrome at higher risk can occur at younger age. It is classifiedinto Debakey type 1,2,3 and Stanfords type A and B dependingupon location of dissection. High clinical suspicion required fordiagnosing dissection has variable clinical manifestation mostcommon is chest pain (80%), severe aortic insufficiency (45%),hypotension (14%), shock (13%), syncope (12%), MI (7–19%), CVA(8%) and paraplegia (2%), pulse deficit is seen (26%). The managementof the dissection is beta blocker drug of choice, followed byACE inhibitors. Medical management is considered in uncomplicatedand chronic type B dissection, surgery is the treatment ofchoice acute type A, complicated type B, associated with Marfanssyndrome, end organ dysfunction. Endovascular therapy can bedone in alternative in complicated type B dissections.Conclusion: Reporting a case Marfans syndrome with type A dissectiondiagnosed TEE.