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.

Genetic Origins of Pediatric Heart Disease.

Benson DW

Department of Pediatrics, Cincinnati Children's Medical Center, 3333 Burnet Ave, Cincinnati, OH, 45229, USA, woody.benson@cchmc.org.

Pediatric heart disease comprises many forms of cardiovascular disease in the young including cardiovascular malformations (CVM), cardiomyopathies, vasculopathies, e.g., Marfan syndrome, and cardiac arrhythmias. CVM are an important component of pediatric heart disease and constitute a major portion of clinically significant birth defects. In the past decade, the complementary nature of genetic, developmental, and biochemical approaches have contributed to extraordinary advances in understanding the origins of pediatric heart disease. Results of the studies of the cardiac transcription factor, NKX2.5, illustrate these accomplishments and at the same time provide a forecast of the nature of future genetic studies to better understand the origins of pediatric heart disease.

Published 21 January 2010 in Pediatr Cardiol.
Full-text of this article is available online (may require subscription).

Articles on Marfan Syndrome published 21 January 2010:

A teenager with marfan syndrome and left ventricular noncompaction.   Pediatr Cardiol, 31(1): 132-5.

We report a teenager with Marfan syndrome who presented to Cincinnati Children's Hospital Medical Center as part of a preoperative evaluation for an orthopedic procedure after asymptomatic arrhythmia was recognized. Continuous cardiac monitoring showed frequent premature ventricular contractions and nonsustained runs of ventricular tachycardia. Cardiac magnetic resonance imaging showed left ventricular noncompaction (LVNC), prompting insertion of an implantable cardiac defibrillator. Although ... [Abstract] [Full-text]

Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies.   Indian J Pediatr.

We report the first case of an infant with a dual genetic diagnosis of CHARGE and Marfan syndrome. The patient had multiple congenital anamolies, many of them consistent with CHARGE syndrome and genetic testing identified a heterozygous mutation c.3806_11del6insA in the CHD7 gene. In addition, his father had physical features consistent with Marfan syndrome. Fibrillin-1 (FBN1) mutation screening identified a heterozygous c.3990insC mutation in both father and the patient. [Abstract] [Full-text]

Articles on Marfan Syndrome published 19 January 2010:

Uncommon congenital and acquired aortic diseases: role of multidetector CT angiography.   Radiographics, 30(1): 79-98.

State-of-the-art multidetector computed tomographic (CT) technology has replaced invasive angiography for evaluation of patients suspected to have aortic disease. Although most aortic disease is associated with atherosclerosis (ie, aneurysms and dissection), the spectrum of aortic disease is vast and includes various congenital and acquired entities. Radiologists should also be familiar with uncommon aortic diseases, which are divided into those that are congenital in origin and acquired ... [Abstract] [Full-text]

Articles on Marfan Syndrome published 18 January 2010:

FBN1 mutations in patients with descending thoracic aortic dissections.   Am J Med Genet A.

Aortic aneurysm and dissection cause significant morbidity and mortality. There are several known single gene disorders that predispose to isolated aortic disease and eventually aneurysm and dissection. FBN1 mutations are associated with multiple clinical phenotypes, including Marfan syndrome (MFS), MASS phenotype, and familial ectopia lentis, but rarely with isolated aortic aneurysm and dissection. In this report, we describe three patients who presented with primary descending thoracic aortic ... [Abstract] [Full-text]

Distinct defects in collagen microarchitecture underlie vessel-wall failure in advanced abdominal aneurysms and aneurysms in Marfan syndrome.   Proc Natl Acad Sci U S A, 107(2): 862-5.

An aneurysm of the aorta is a common pathology characterized by segmental weakening of the artery. Although it is generally accepted that the vessel-wall weakening is caused by an impaired collagen metabolism, a clear association has been demonstrated only for rare syndromes such as the vascular type Ehlers-Danlos syndrome. Here we show that vessel-wall failure in growing aneurysms of patients who have aortic abdominal aneurysm (AAA) or Marfan syndrome is not related to a collagen defect at the ... [Abstract] [Full-text]

Articles on Marfan Syndrome published 13 January 2010:

Losartan therapy in adults with Marfan syndrome: study protocol of the multi-center randomized controlled COMPARE trial.   Trials, 11(1): 3.

ABSTRACT: BACKGROUND: Marfan syndrome (MFS) is one of the most common systemic disorders of connective tissue with the incidence of approximately 2-3 per 10 000 individuals. Aortic disease, leading to progressive aneurysmal dilatation and dissection is the main cause of morbidity and mortality of Marfan patients. Current treatment (e.g. beta blockers and elective surgery) does postpone but cannot prevent aortic complications in these patients. Recent studies have found Transforming Growth ... [Abstract] [Full-text]

Articles on Marfan Syndrome published 12 January 2010:

Urinary incontinence should be added to the manifestation in women with Marfan syndrome.   Int Urogynecol J Pelvic Floor Dysfunct.

INTRODUCTION AND HYPOTHESIS: We aimed to compare the incidence of urinary incontinence in women with Marfan syndrome and controls, hypothesizing that connective tissue abnormality could contribute to urinary incontinence. METHODS: A cross-sectional historical cohort study was conducted on 14 premenopausal women with Marfan syndrome and 534 controls using Urogenital Distress Inventory Short Form and Incontinence Impact Questionnaire Short Form. RESULTS: Marfan subjects had significantly higher ... [Abstract] [Full-text]

Articles on Marfan Syndrome published 4 January 2010:

Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin.   J Biol Chem, 285(2): 1188-98.

Homocystinuria caused by cystathionine-beta-synthase deficiency represents a severe form of homocysteinemias, which generally result in various degrees of elevated plasma homocysteine levels. Marfan syndrome is caused by mutations in fibrillin-1, which is one of the major constituents of connective tissue microfibrils. Despite the fundamentally different origins, both diseases share common clinical symptoms in the connective tissue such as long bone overgrowth, scoliosis, and ectopia lentis, ... [Abstract] [Full-text]

© 2005-2010 Marfan Syndrome Research Today. All Rights Reserved.