Marfan’s syndrome (MFS) is an autosomal dominant disorder characterized by aortic root dilation, mitral valve prolapse and aortic regurgitation. The typical aneurysm location involves the thoracic aorta (60%). Thoracoabdominal aortic dissections are quite infrequent (10%). A type A aortic dissection can have fatal complications, such as aortic rupture and cardiac tamponade, and a prompt diagnosis is crucial. The present case involves a 46-year-old patient with Marfan’s syndrome who was admitted to the emergency department for dyspnea. The patient presented congestive signs and manifestations suggesting acute heart failure. An initial transthoracic echocardiogram (TTE)？showed ventricular hypertrophy and diastolic dysfunction. Additionally, TTE showed plurivalvular regurgitation, pulmonary hypertension (42 mmHg), aortic dilatation, and a dissection flap. Coronary computed tomography angiography (CCTA) was performed, confirming the suspicion of ascending aortic dissection. The patient underwent a three-stage intervention for the repair of all the defects, with adequate recovery. This was a rare presentation of aortic dissection in MFS, which was a diagnostic challenge for the heart team.
References
[1]
Bitterman, A.D. and Sponseller, P.D. (2017) Marfan Syndrome: A Clinical Update. Journal of the American Academy of Orthopaedic Surgeons, 2, 603-609.
https://doi.org/10.5435/JAAOS-D-16-00143
[2]
Ramirez, F. and Dietz, H.C. (2004) Therapy Insight: Aortic Aneurysm and Dissection in Marfan’s Syndrome. Nature Clinical Practice Cardiovascular Medicine, 1, 31-36.
https://doi.org/10.1038/ncpcardio0020
[3]
Farag, M., Büsch, C., Rylski, B., Poling, J., Dohle, D.S., Sarvanakis, K., et al. (2021) Early Outcomes of Patients with Marfan Syndrome and Acute Aortic Type A Dissection. The Journal of Thoracic and Cardiovascular Surgery, S0022-5223(21)01123-5.
https://doi.org/10.1016/j.jtcvs.2021.07.024
[4]
Bossone, E. and Eagle, K.A. (2021) Epidemiology and Management of Aortic Disease: Aortic Aneurysms and Acute Aortic Syndromes. Nature Reviews Cardiology, 18, 331-348. https://doi.org/10.1038/s41569-020-00472-6
[5]
Nedunchelian, M., Patil, S.B., Kumar, E.S. and Varadharajan, S. (2021) Aortic Dissection Masquerading as Stroke. Neurology India, 69, 1129-1130.
https://doi.org/10.4103/0028-3886.325300
[6]
Riambau, V., Bockler, D., Brunkwall, J., Cao, P., Chiesa, R., Coppi, G., et al. (2017) Editor’s Choice—Management of Descending Thoracic Aorta Diseases: Clinical Practice Guidelines of the European Society for Vascular Surgery (ESVS). European Journal of Vascular and Endovascular Surgery: The Official Journal of the European Society for Vascular Surgery, 53, 4-52. https://doi.org/10.1016/j.ejvs.2016.06.005
[7]
Tchana-Sato, V., Sakalihasan, N. and Defraigne, J.O. (2018) [Aortic Dissection]. Revue Medicale de Liege, 73, 290-295.
[8]
Njoku, P.O., Mbadiwe, N.C., Onwubere, B.J., Ejim, E.C., Anisiuba, B.C., Iyidobi, T.C., et al. (2022) Marfan Syndrome with Aortic Root Disease, Severe Heart Failure and Aortic Dissection—Two Case Reports. Nigerian Journal of Clinical Practice, 25, 205-210. https://doi.org/10.4103/njcp.njcp_675_20
[9]
Hiratzka, L.F., Bakris, G.L., et al. (2010) 2010 ACCF/AHA/AATS/ACR/ASA/SCA/ SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients with Thoracic Aortic Disease: A Report of the American College of Cardiology Foundation. Circulation, 121, e266-e369.
[10]
Cabanelas, N., Nobre, A., Guerra, N., Gallego, J., Ferreira, R., Carvalheiro, C., et al. (2011) Imagens em Cardiologia… mas depois da clínica em Cardiologia…—Disseccao da aorta num doente com Síndrome de Marfan. Revista Portuguesa de Cardiologia, 30, 735-741. https://doi.org/10.1016/S0870-2551(11)70018-X
[11]
Nardi, P., Pellegrino, A., Versaci, F., Mantione, L., Polisca, P., Iorio, F.S., et al. (2010) Aortic Root Surgery in Marfan Syndrome: Bentall Procedure with the Composite Mechanical Valved Conduit versus Aortic Valve Reimplantation with Valsalva Graft. Journal of Cardiovascular Medicine, 11, 648-654.
https://doi.org/10.2459/JCM.0b013e3283379998
