Marfan Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Marfan Syndrome, including details on genetics, causes, symptoms, treatment.

Pericardial Tamponade due to Perforation of a Posterolateral Branch of the Circumflex Artery Caused by a Perforating Edge of a Resected Rib following Orthopedic Surgery in a 14-Year-Old Patient.

Schachner T, Laufer G, Wiedemann D, Chevtchik O

Innsbruck Medical University, Innsbruck, Austria.

A 14-year-old female patient with Marfan syndrome was resuscitated because of pericardial tamponade following orthopedic surgery to correct scoliosis. The emergency sternotomy revealed injury to a posterolateral branch of the circumflex artery caused by pericardial perforation by the stump of a previously resected rib. Cardiopulmonary bypass immediately restored the circulation, and the primarily dilated, noncontractile heart regained its contractile function. The small posterolateral branch was sewn over, and the sharp edge of the rib stump was smoothed by abrasion and covered with a Gore-Tex membrane. The patient recovered completely during the remainder of her postoperative stay.

Published 27 April 2011 in Heart Surg Forum, 14(2): E135-6.
Full-text of this article is available online (may require subscription).

Articles on Marfan Syndrome published 25 April 2011:

Expanding Arch Aneurysm Causing a "Kink" in a Bentall Graft and Heart Failure.   J Thorac Imaging.

Marfan syndrome is associated with a high incidence of aortic root aneurysm and life-threatening aortic dissection. With the successful use of surgical aortic root replacement, dissection-related mortality has been significantly reduced. We present the case of a patient with Marfan syndrome who presented with heart failure secondary to an unusual graft-related complication 14 years after a Bentall procedure. Investigations revealed a supra-aortic stenosis resulting from a kink in the Bentall ... [Abstract] [Full-text]

Comparison of aortic dissection in Chinese patients with and without Marfan syndrome.   Postgrad Med J, 87(1027): 325-30.

Background Aortic dissection is a life-threatening cardiovascular disease with high mortality. Little is known about comparisons of the clinical characteristics or the factors that influence the long-term prognosis of Chinese patients with aortic dissection with and without Marfan syndrome (MFS). Methods The authors studied the data of 246 patients with aortic dissection. The patients were hospitalised for aortic abnormalities from 2004 to 2008 in Fuwai Hospital. Medical charts were reviewed to ... [Abstract] [Full-text]

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.   Eur J Hum Genet, 19(5): 520-4.

Mutations in the gene encoding smooth muscle cell alpha actin (ACTA2) have recently been shown to cause familial thoracic aortic aneurysms leading to type A dissections (TAAD) and predispose to premature stroke and coronary artery disease. In order to further explore the role of ACTA2 variations in the pathogenesis of TAAD, we sequenced the coding regions of this gene in 40 unrelated German patients with TAAD (with (n=21) or without (n=19) clinical features suggestive of Marfan syndrome). All ... [Abstract] [Full-text]

Articles on Marfan Syndrome published 20 April 2011:

Impaired biventricular deformation in marfan syndrome: a strain and strain rate study in adult unoperated patients.   Echocardiography, 28(4): 416-30.

Objective: To investigate the presence of any regional myocardial deformation abnormalities in Marfan syndrome (MFS) and determine the benefits of using advanced echocardiography compared to conventional techniques. Background: Myocardial dysfunction in MFS may be caused by extracellular matrix remodeling thus, resulting in uniform reduced functionality. However, increased aortic stiffness may cause segmental ventricular abnormalities. Strain rate imaging (SRI) constitutes a validated technique ... [Abstract] [Full-text]

SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction.   Am J Med Genet A, 155(5): 1165-9.

Juvenile polyposis syndrome (JPS) is caused by heterozygous mutations in either SMAD4 or BMPR1A. Individuals with JPS due to mutations in SMAD4 are at greater risk to manifest signs of hereditary hemorrhagic telangiectasia (HHT). HHT is caused by either mutations in SMAD4 or other genes that modulate transforming growth factor-beta (TGFβ) signaling. Additional genes in the TGFβ network include FBN1, TGFBR1, and TGFBR2, mutations of which cause either Marfan syndrome (MFS) or Loeys-Dietz ... [Abstract] [Full-text]

Articles on Marfan Syndrome published 19 April 2011:

The usefulness of multidetector computed tomographic angiography for the diagnosis of Marfan syndrome by Ghent criteria.   Int J Cardiovasc Imaging.

The Ghent nosology is the gold standard in the diagnosis of Marfan syndrome. In Ghent nosology, clinical features are assessed within seven body systems. The diagnosis of Marfan syndrome requires both a major criterion in two systems and the involvement of a third system. The purpose of this study was to evaluate the usefulness of multidetector computed tomographic (MDCT) angiography in the diagnosis of Marfan syndrome by Ghent nosology. Forty-nine patients (mean age: 33.2 ± 11.7 year, ... [Abstract] [Full-text]

Articles on Marfan Syndrome published 15 April 2011:

Angiotensin II Type 2 Receptor Signaling Attenuates Aortic Aneurysm in Mice Through ERK Antagonism.   Science, 332(6027): 361-365.

Angiotensin II (AngII) mediates progression of aortic aneurysm, but the relative contribution of its type 1 (AT1) and type 2 (AT2) receptors remains unknown. We show that loss of AT2 expression accelerates the aberrant growth and rupture of the aorta in a mouse model of Marfan syndrome (MFS). The selective AT1 receptor blocker (ARB) losartan abrogated aneurysm progression in the mice; full protection required intact AT2 signaling. The angiotensin-converting enzyme inhibitor (ACEi) enalapril, ... [Abstract] [Full-text]

Noncanonical TGF{beta} Signaling Contributes to Aortic Aneurysm Progression in Marfan Syndrome Mice.   Science, 332(6027): 358-361.

Transforming growth factor-β (TGFβ) signaling drives aneurysm progression in multiple disorders, including Marfan syndrome (MFS), and therapies that inhibit this signaling cascade are in clinical trials. TGFβ can stimulate multiple intracellular signaling pathways, but it is unclear which of these pathways drives aortic disease and, when inhibited, which result in disease amelioration. Here we show that extracellular signal-regulated kinase (ERK) 1 and 2 and Smad2 are activated in a mouse ... [Abstract] [Full-text]

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