Two patients with Weill?Marchesani syndrome and mitral stenosis

Woestijne, Pieter C. van de; Harkel, A. Derk-Jan Ten; Bogers, Ad J.J.C.

doi:10.1016/j.icvts.2004.04.004

Cited by 10 publications

(6 citation statements)

References 5 publications

(6 reference statements)

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“…The most commonly reported echocardiographic abnormality is mitral valve prolapse and congenital valvular aortic stenosis [Kojuri et al, 2007]. Subvalvular fibromuscular aortic stenosis, mitral stenosis, and pulmonic valve stenosis have been described in WMS patients, findings that overlap the valvular thickening in AD and GD patients [Faivre et al, 2003a; Ferrier et al, 1980; Le et al, 2011; Megarbane et al, 2000; van de Woestijne et al, 2004]. A review of the cardiovascular findings in six patients with WMS found prolonged QTc interval in three patients [Kojuri et al, 2007] and Patient 1 reported here also has prolonged QTc intervals.…”

Section: Discussionmentioning

confidence: 99%

“…WMS is an autosomal dominant or autosomal recessive connective tissue disease characterized by proportionate short stature, brachydactyly, joint stiffness, and abnormalities of the ocular lens, including microspherophakia, ectopia lentis, and glaucoma. Cardiac anomalies such as mitral valve prolapse, aortic and pulmonary valve stenosis, ventricular septal defects, and QTc prolongation have each been described in individuals with WMS [Faivre et al, 2003a; Kojuri et al, 2007; van de Woestijne et al, 2004]. However, thoracic aortic disease has not been reported as a feature of WMS.…”

Section: Introductionmentioning

confidence: 99%

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Missense mutations in FBN1 exons 41 and 42 cause Weill–Marchesani syndrome with thoracic aortic disease and Marfan syndrome

Cecchi

Ogawa

Martinez

et al. 2013

American J of Med Genetics Pt A

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Mutations in FBN1 cause a range of overlapping but distinct conditions including Marfan syndrome (MFS), Weill-Marchesani syndrome (WMS), familial thoracic aortic aneurysms/dissections (FTAAD), acromicric dysplasia (AD), and geleophysic dysplasia (GD). Two forms of acromelic dysplasia, AD and GD, characterized by short stature, brachydactyly, reduced joint mobility, and characteristic facies, result from heterozygous missense mutations occurring in exons 41 and 42 of FBN1; missense mutations in these exons have not been reported to cause MFS or other syndromes. Here we report on probands with MFS and WMS who have heterozygous FBN1 missense mutations in exons 41 and 42, respectively. The proband with WMS has ectopia lentis, short stature, thickened pinnae, tight skin, striae atrophicae, reduced extension of the elbows, contractures of the fingers and toes, and brachydactyly and has a missense mutation in exon 42 of FBN1 (c.5242T>C ;p.C1748R). He also experienced a previously unreported complication of WMS, an acute thoracic aortic dissection. The second proband displays classic characteristics of MFS, including ectopia lentis, skeletal features and aortic root dilatation, and has a missense mutation in exon 41 of FBN1 (c.5084G>A; p.C1695Y). These phenotypes provide evidence that missense mutations in exons 41 and 42 of FBN1 lead to MFS and WMS in addition to AD and GD and also suggest that all individuals with pathogenic FBN1 mutations in these exons should be assessed for thoracic aortic disease and ectopia lentis. Further studies are necessary to elucidate the factors responsible for the different phenotypes associated with missense mutations in these exons of FBN1.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Missense mutations in FBN1 exons 41 and 42 cause Weill–Marchesani syndrome with thoracic aortic disease and Marfan syndrome

Cecchi

Ogawa

Martinez

et al. 2013

American J of Med Genetics Pt A

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“…Most patients have been described with ophthalmic features, among them dislocation of microspherophakic lenses which causes myopia, ectopia lentis ( Mcgavic, 1966 ), acute and/or chronic glaucoma ( Lim et al, 2016 ), and cataract. Cardiac defects in WMS include aortic and pulmonary valve stenosis, mitral stenosis ( Vandewoestijne, 2004 ), valvular thickening, mitral valve prolapse, corrected QT interval (QTc) prolongation on electrocardiogram (ECG) ( Kojuri et al, 2007 ), and more recently cervical artery dissection ( Newell et al, 2017 ) and acute thoracic dissection ( Cecchi et al, 2013 ).…”

Section: Acromelic Dysplasiasmentioning

confidence: 99%

Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias

et al. 2021

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The term “fibrillinopathies” gathers various diseases with a wide spectrum of clinical features and severity but all share mutations in the fibrillin genes. The first described fibrillinopathy, Marfan syndrome (MFS), is a multisystem disease with a unique combination of skeletal, thoracic aortic aneurysm (TAA) and ocular features. The numerous FBN1 mutations identified in MFS are located all along the gene, leading to the same pathogenic mechanism. The geleophysic/acromicric dysplasias (GD/AD), characterized by short stature, short extremities, and joint limitation are described as “the mirror image” of MFS. Previously, in GD/AD patients, we identified heterozygous FBN1 mutations all affecting TGFβ-binding protein-like domain 5 (TB5). ADAMTS10, ADAMTS17 and, ADAMTSL2 are also involved in the pathogenic mechanism of acromelic dysplasia. More recently, in TAA patients, we identified mutations in THSD4, encoding ADAMTSL6, a protein belonging to the ADAMTSL family suggesting that ADAMTSL proteins are also involved in the Marfanoid spectrum. Together with human genetic data and generated knockout mouse models targeting the involved genes, we provide herein an overview of the role of fibrillin-1 in opposite phenotypes. Finally, we will decipher the potential biological cooperation of ADAMTS-fibrillin-1 involved in these opposite phenotypes.

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“…Пороки развития сердечно-сосудистой системы определяют не часто, описаны открытый артериаль-ный проток, стеноз легочной артерии, аортальный стеноз, пролапс митрального клапана, митральная и трикуспидальная регургитация, удлинение интер-вала QT [26].…”

Section: российскийunclassified

Clinical diagnostics of fibrillinopathies (type 1)

Трисветова¹

2013

Russ J Cardiol

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Two patients with Weill?Marchesani syndrome and mitral stenosis

Abstract: Recently we performed a mitral valve reconstruction in two young brothers with Weill-Marchesani syndrome and congenital mitral valve stenosis.

Cited by 10 publications

References 5 publications

Missense mutations in FBN1 exons 41 and 42 cause Weill–Marchesani syndrome with thoracic aortic disease and Marfan syndrome

Missense mutations in FBN1 exons 41 and 42 cause Weill–Marchesani syndrome with thoracic aortic disease and Marfan syndrome

Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias

Clinical diagnostics of fibrillinopathies (type 1)

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