Prenatal Marfan syndrome: report of one case and review of the literature

Lopes, Karoana Rocha; Delezoide, Anne‐Lise; Baumann, Clarisse; Vuillard, E.; Luton, Dominique; Chitrit, Yvon; Azancot, A.

doi:10.1002/pd.1482

Cited by 28 publications

(16 citation statements)

References 15 publications

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“…5,21,22 In our series, ToF was strongly associated with an AA/MPA ratio of greater than 1 either quantitatively or qualitatively. In ToF, MPA hypoplasia accounted for most of the increased AA/MPA ratios.…”

Section: B Amentioning

confidence: 92%

Aorta Larger Than Pulmonary Artery in the Fetal 3‐Vessel View

Rollins

Acherman

Castillo

et al. 2009

J of Ultrasound Medicine

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Objective. Fetal great artery asymmetry may accompany congenital heart disease. The fetal echocardiographic 3-vessel view (3VV) allows assessment of the superior vena cava, ascending aorta (AA), and main pulmonary artery (MPA). Our aim was to determine the association of congenital heart disease in fetuses with an AA/MPA ratio of greater than 1. Methods. We electronically searched our fetal echocardiographic database for studies performed between March 2002 and January 2008 that showed 3VVs with AA/MPA ratios of greater than 1 and correlated the findings with the presence of congenital heart disease. Results. In 2797 fetal echocardiograms, we identified 31 fetuses with normal 4-chamber views showing AA/MPA ratios of greater than 1 in the 3VV. Of 31 fetuses, 25 (81%) had tetralogy of Fallot (ToF) or a ToF variant, and 6 (19%) had an aortic valve abnormality or isolated dilatation of the AA. Conclusions. Screening obstetric fetal sonography showing a 3VV AA/MPA ratio of greater than 1 suggests congenital heart disease and indicates the need for comprehensive fetal echocardiography.

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Section: B Amentioning

confidence: 92%

Aorta Larger Than Pulmonary Artery in the Fetal 3‐Vessel View

Rollins

Acherman

Castillo

et al. 2009

J of Ultrasound Medicine

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“…Dysfunctional BAVs excised in childhood, and therefore likely to have been dysplastic, have been found to be deficient in fibrillin [67]. Fibrillin deficiency is also a feature of infantile Marfan's syndrome, which is attributed to mutations in the fibrillin-1 gene, and has macroscopic myxomatous valvular changes similar to dysplastic valves [68]. Fibrillin is a major component of the extracellular matrix, essential to normal elastic tissue formation.…”

Section: Csvd Microstructure and Its Implicationsmentioning

confidence: 99%

Insight into pathologic abnormalities in congenital semilunar valve disease based on advances in understanding normal valve microstructure and extracellular matrix

Stephens

Kearney

Grande-Allen

2012

Cardiovascular Pathology

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Congenitally diseased valves are relatively frequent causes of significant morbidity and mortality. Pathology descriptions of such valves have primarily focused on gross structural features including the number of leaflets or commissures (bicuspid/bicommissural valve) and alterations in the contour, thickness and consistency of the leaflets (dysplastic valve). Functional correlates of these pathologic alterations are valvar stenosis, insufficiency or both. Further characterization of the microstructural abnormalities seen in these malformed valves may not only provide insight into the correlation of distinct pathologies with their respective pathogenesis and clinical sequelae, but also may prove pivotal in uncovering new avenues for therapeutic interventions and prevention regimens. This review summarizes microstructural findings in congenital semilunar valve disease (CSVD) and discusses their relevance in light of recent advances in knowledge of normal valve microstructure, biology, and function. Specifically, the biological and mechanical roles of various matrix components and their interactions are discussed in the context of CSVD. Indeed, recent research in normal valves adds significant insight into CSVD, and raises many hypotheses that will need to be addressed by future studies.

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“…Published data on the use of echocardiography to diagnose MFS in utero are scarce. There are a few cases showing cardiomegaly, severe structural and functional abnormalities of the cardiac valves and dilated great vessels 10 11…”

Section: Echocardiography In Childrenmentioning

confidence: 99%

The unravelling of primary myocardial impairment in Marfan syndrome by modern echocardiography

Kiotsekoglou

Sutherland

Moggridge

et al. 2009

Heart

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Use of echocardiography has dramatically changed the way in which patients with Marfan syndrome are diagnosed, monitored and treated. Owing to the lethal nature of aortic complications, priority has been given to the assessment of the aortic root. Echocardiographic studies on patients with Marfan syndrome have also provided data supporting primary myocardial involvement, although this evidence has remained controversial for several years. Use of more sensitive ultrasound techniques has demonstrated mild myocardial impairment in these patients. Biventricular function assessment should be added to the aortic root evaluation, so that appropriate treatment may be offered to support myocardial function.

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Prenatal Marfan syndrome: report of one case and review of the literature

Abstract: We report a case of prenatal Marfan syndrome diagnosed by sequential evaluation of the cardiac signs, which are essential for prenatal diagnosis. The prognosis seems as poor as the neonatal one. The prenatal diagnosis is essential for adequate counselling.

Cited by 28 publications

References 15 publications

Aorta Larger Than Pulmonary Artery in the Fetal 3‐Vessel View

Aorta Larger Than Pulmonary Artery in the Fetal 3‐Vessel View

Insight into pathologic abnormalities in congenital semilunar valve disease based on advances in understanding normal valve microstructure and extracellular matrix

The unravelling of primary myocardial impairment in Marfan syndrome by modern echocardiography

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