(I-2A.1) 54-year-old female with Marfan’s Syndrome Prof. Podolec P. MD, PhD, Kopeć G.MD, PhD, Rubiś P. MD, PhD, Dziedzic-Oleksy H. MD, Hlawaty M. MD, PhD

Keywords: Marfan’s Syndrome, aortic dissection

Background
Marfan’s Syndrome is an inherited autosomal dominant disorder of connective tissue, that affects many organs including the cardiovascular, ocular, skeletal and pulmonary system, the skin and the dura. The classical cardiovascular manifestations of Marfan’s Syndrome are mitral valve prolapse and aortic root dilation, leading to aneurysm and dissection. Regular control studies such as echocardiography, magnetic resonance and computed tomography are required in patients with this disease.

Case description
A 54-year-old Caucasian female with Marfan’s Syndrome (hight-176cm, shortsightedness, arachnodactylia, striae, aortic valve insufficiency) was admitted with severe chest pain to the Emergency Department in Nowa Sól Hospital on December 15, 2006. The CT-scan showed a dissecting aneurysm of the ascending aorta, extending from the supravalvular area, through the aortic arch in the direction of the left subclavian artery (LSA), to the left iliac artery (LIA). She was immediately transferred to the Medient Centre of Cardiac Diseases in Wrocław, where the operation was performed: the ruptured part of the ascending aorta, over the Sino-Tubular Junction (STJ) was removed and a vascular prosthesis (28mm) and a mechanical aortic valve prosthesis (ATS Medical, 25mm) were implanted.
On January 4, 2007 repeat CT scan showed dissection that involved the proximal brachiocephalic trunk and the right communis carotid artery (RCCA). The right subclavian artery (RSA) and other branches of the aortic arch were intact. The visceral trunk, mesenteric artery, and right renal artery derived from the true channel, the left renal artery derived from the false channel. The dissection passed downwards to the left common iliac artery (CIA) and ended at the point where CIA divided into external and internal arteries. At that time the patient was asymptomatic.
On April 16, 2007 she was admitted to the Department of General and Vascular Surgery in Poznan due to severe headaches and neck pain. The doctors assumed that the headaches resulted from increased central pressure being a consequence of significant narrowing of the true channel at several sites (too much blood from the heart pushes against the newly dissected carotid artery causing its damage). A decision was made to deploy a stentgraft (15cm) at the level of the LSA to the area above the visceral trunk.
On September 10, 2007 the CT scan of the carotid arteries showed the dissection that included the brachiocephalic trunk, proximal right subclavian artery (RSA), right common carotid artery (RCCA) and proximal RICA (to about 1.1cm from the origin). The false channel of the brachiocephalic trunk and proximal RSA, and proximal RCCA were clotted. There was no dissection of the RECA, LCCA, LSA.
At that point Professor Piotr Pieniążek, an invasive cardiologist from Krakow and Professor Robert Juszkat, a radiologist from Poznan, were asked for their opinion. They both agreed that any surgical treatment might cause additional damage.
Between 2007 and 2010 she had been hospitalized several times due to high blood pressure. The control CT scans of the aorta and carotid arteries showed no progression of the dissection compared to the study from 2007.
The current symptoms of the patient are recurrent headaches and chest pain that occur once a month as well as the episodes of high blood pressure (up to 150/80 mmHg). More frequently (twice a month) she suffers from vertigo and lightheadedness. She is unable to perform any kind of work, which is why she is on a pension, performing only the basic daily activity. Her optimal blood pressure is 110/65 mmHg, if higher, the headaches recur and if systolic blood pressure is over 125 mmHg she requires additional drugs.

Guidelines
According to the 2011 Guidelines on the management of patients with extracranial carotid and vertebral artery disease the therapeutic options for patients with carotid artery dissection are medical therapy with antiplatelet agents or anticoagulants if the dissection is associated with ischemic stroke or TIA (Class IIa B). The endovascular revascularization or surgical techniques that involve carotid repair or resection with vein graft replacement are reserved for patients who suffer from recurrent symptoms of the ischemic stroke or TIA that fail to respond to anticoagulants.
The rigorous antihypertensive medical therapy is required. The goal is the systolic blood pressure 120 mmHg and 110 mmHg if the aortic dissection is present. β-blockers are the standard medical treatment, but there are several clinical trials that evaluate the angiotensin II receptor-1 blocker losartan in the management of hypertension.

References
1. Brot et al: 2011ASA/ACCF/AHA/AANN/ACR/ASNR/CNS/SAIP/SIR/SNIS/SVM/SVS Guidelines on the management of patients with extracranial carotid and vertebral artery disease. Stroke 2011, 42: 464-540
2. ESC Guidelines for the management of grown-up congenital heart disease (new version 2010), European Heart Journal (2010) 31, 2915-2957

Experts’ conclusions:
This 54-year-old female with Marfan’s Syndrome requires in the present situation rigorous therapy that involves antihypertensive medications, anticoagulants (due to artificial aortic valve) and regular follow-up in order to maintain the best therapeutic approach. Any endovascular revascularization or surgical techniques may cause damage instead of helping the patient. Conservative approach is advised.

54-year-old female with Marfan’s Syndrome – flash presentation

Authors:
Prof. Podolec P. MD, PhD1, Kopeć G.MD, PhD1, Rubiś P. MD, PhD1, Dziedzic-Oleksy H. MD1, Hlawaty M. MD, PhD1

Experts:
Prof. Hetzer R.2, Assoc.Prof. Pieniążek P.MD, PhD1, Prof. Popelova J.3

1 Department of Cardiac and Vascular Diseases, Jagiellonian University College of Medicine, John Paul II Hospital, Krakow, Poland
2 Medical Director and Chair of the Executive Management Board, Deutsches Herzzentrum, Berlin, Germany
3Department of Cardiac Surgery, Hospital Na Homolce, Prague, Czech Republic

 

case presentations and videos are provided for private use only
This entry was posted in 1. Marfan syndrome, 2. Connective tissue disorders causing aneurysmal disease, A. Aneurysmal disease of the aorta, Case presentations, I. Rare diseases of systemic circulation. Bookmark the permalink.

Comments are closed.