Background
Marfan’s Syndrome is an autosomal dominant disorder of a connective tissue [1]. It affects many organs causing abnormalities of the cardiovascular, musculoskeletal and central nervous systems, eyes, lung, skin and the dura [2]. The classical cardiovascular manifestations of Marfan’s Syndrome are mitral valve prolapse and aortic root dilation, leading to aneurysm and dissection.
A PFO (patent foramen ovale) is a flap-like opening between the left and right atria of the heart. It usually fuses shut after birth, but in about one in four people it stays patent. In some patients a blood clot may pass through the PFO and travel to the brain causing an ischemic stroke.
Case presentation
A 29 y.o. Caucasian female (hight-180cm, arachnodactyly with wrist sign, no thumb sign, increased arm span to height ratio, severe myopia, skin striae, mild thoracic scoliosis) was admitted to the department of neurology with the symptoms of dysatria, minor motoric aphasia, disorientation and memory impairment. For 3 previous days she has complained from headache and nausea. In CT and MR of the head on admission the stroke area in left parietal area was revealed. Because of her Marfan-like features (although Marfan Syndrome has never been diagnosed) the CT of aorta was performed and revealed the dissection of the descending aorta, starting from the beginning of the left subclavian artery to the aortic bifurcation. At that time she was consulted in the cardiosurgery department where the chronic dissection of the aorta was confirmed, requiring no surgical intervention at that time.
She was hospitalized in September 2012 in the Department of Heart and Vessels Diseases in John Paul II Hospital in Kraków. On echocardiography mild enlargement of the left ventricle was showed. The sizes of the aortic annulus, bulb of the aorta, Sino Tubular Junction and ascending aorta were within normal. There was no mitral nor aortic regurgitation. There was an aneurysmatic intratrial septum (length 25 mm, inclination 8 mm towards right atrium) with transseptal flow possible. On transoesophageal echocardiography an aneurysmatic interatrial septum with patent foramen ovale was confirmed an the flow of blood from the right to left atrium during the Valsalva maneuver was shown. The control CT-scan showed the dissecting aneurysm of the aorta (de Bakey III). Dissection started from the level of left subclavian artery and continued to the level of the aortic bifurcation. The visceral trunk, mesenteric artery, renal arteries and iliac arteries derive from the true channel. She was reconsulted with the cardio surgeons – the angio CT follow up after 6 months was recommended.
Current guidelines
According to the RESPECT clinical trial [3] there is an evidence of benefit in stroke risk reduction from closure of PFO over medical management alone shown for carefully selected patients with history of cryptogenic stroke and PFO.
References
1.ESC Guidelines for the management of grown-up congenital heart disease (new version 2010), European Heart Journal (2010) 31, 2915-2957
2.Yuan SM, Jing H. Marfan’s syndrome: an overview. Sao Paulo Med J. 2010 Dec;128(6):360-6.
3.Randomized Evaluation of Recurrent Stroke Comparing PFO Closure to Established Current Standard of Care Treatment, www.sjmprofessional.com/respect-study.aspx
Expert’s comments:(Written authorization required from each expert)
1. Robert Hammerschmidt, MD, PhD
The clsure of PFO should be performed because the intraatrial septum is aneurysmatic and in such a septa the clot formation is very possible. Operation of the dissection of the aorta may be required in the future, but not now.
2. Henryk Siniawski, MD, PhD
Pregnancy is contraindicated in this patient. Therefore you have to make sure that the patient continues efficient contraception.
3.Bogusław Kapelak, MD, PhD
The dissection of the aorta should be observed every 3-6 months. PFO should be closed.
4.Prof. Piotr Podoelc, MD, PhD
Percutaneous PFO closure should be advised in this patient.
Expert’s conclusions:
The patient should undergo the interventional procedure of closure of the PFO. The dissection of the aorta should be observed.
Authors:
Hanna Dziedzic-Oleksy MD1, Jakub Stępniewski MD1 , Monika Komar MD, PhD1, Grzegorz Kopeć MD, PhD1, Jakub Podolec MD1.
Experts:
Robert Hammerschmidt, MD, PhD2, Henryk Siniawski, MD, PhD2, Bogusław Kapelak, MD, PhD1, Prof. Piotr Podolec, MD, PhD3
1 Department of Heart and Vascular Disease, John Paul II Hospital, Krakow, Poland
2Deutsches Herzzentrum Berlin, Germany
3Department of Cardiac and Vascular Disease in John Paul II Hospital, Institute of Cardiology, Faculty of Medicine, Jagiellonian University, Krakow, Poland.
