FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression

Kühne, K.; Keyser, Britta; Groene, Eike F.; Sheikhzadeh, Sara; Detter, Christian; Lorenzen, Victoria; Hillebrand, Mathias; Bernhardt, A.; Hoffmann, Boris; Mir, Thomas S.; Robinson, Peter N.; Berger, Jürgen; Reichenspurner, Hermann; Kodolitsch, Yskert Von; Rybczynski, Meike

doi:10.1016/j.ijcard.2012.10.044

Cited by 16 publications

(18 citation statements)

References 32 publications

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“…Finally, a cohort study of 116 patients with a causative FBN1 gene mutation and ≤moderate mitral valve regurgitation at baseline examined the impact of FBN1 gene mutation characteristics. This study found only a marginal relationship between FBN1 gene mutations (i.e., located both in a transforming-growth-factor beta-binding protein-like (TGFb-BP) domain and in the calcium-binding epidermal growth factorlike (cbEGF) domain) and the risk of mitral valve surgery [41].…”

Section: Mitral Valve Diseasementioning

confidence: 68%

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

Kodolitsch

Demolder

Girdauskas

et al. 2019

Expert Review of Cardiovascular Therapy

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Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features. Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive-and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction. Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome. ARTICLE HISTORY

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Section: Mitral Valve Diseasementioning

confidence: 68%

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

Kodolitsch

Demolder

Girdauskas

et al. 2019

Expert Review of Cardiovascular Therapy

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“…4 Second, the broad spectrum of type 1 fibrillinopathies, as well as the wide clinical heterogeneity among individuals and families affected with the same mutation, result in a challenging phenotypic-genotypic correlation. 8,9 Furthermore, extensive phenotypic overlapping is observed in the general population, with high prevalence of MVP or skeletal marfanoid disorders 10,11 and so-called MM conditions. 12,13,14 Finally, whereas this latter group shares $1 clinical features with Marfan syndrome, patients may differ in their clinical evolution and prognosis, showing a low risk of aortic/coronary dilation or dissection.…”

Section: Discussionmentioning

confidence: 99%

“…11,12 It can be defined as a $2-mm superior displacement of the mitral valve leaflets into the left atrium during systole. 15 MVP is considered the most common primary valvular abnormality in young populations (prevalence 2% to 5%), 16,17 and it is often associated with heritable connective tissue disorders.…”

Section: Discussionmentioning

confidence: 99%

Chest Pain in Children With Suspected Type I Fibrillinopathy: A Case Report

et al. 2015

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Chest pain is the second most common reason for referral to a pediatric cardiologist, because cardiovascular-related disorders are a major concern for children and their families when seeking medical attention. On the rare occasions when pediatric chest pain is a result of severe heart disease, it is usually associated with well-known cardiovascular risk factors such as fibrillinopathies. Type 1 fibrillinopathies are heritable disorders caused by mutations in the fibrillin genes that lead to a broad spectrum of connective tissue phenotypes ranging from Marfan syndrome, at the most severe end, to patients displaying mild marfanoid features, or milder Marfan (MM). We report the case of an adolescent patient with MM and suspected acute coronary syndrome, with chest pain and electrocardiographic changes suggestive of myocardial ischemia. Despite the low risk of coronary or aortic dissection/aneurysm in MM, these possibilities should be tested. Once they are ruled out, mitral valve prolapse should be considered as the main cause of chest pain with ischemic-like changes in the inferior electrocardiogram leads. We emphasize that clinical and echocardiographic follow-up over years is warranted in the pediatric population to ensure that the aortic root does not show progressive dilatation or a tendency to dissect. Finally, genotyping is clinically indicated for early and complete diagnosis in patients with MM as well as de novo Marfan syndrome to take advantage of educational and clinical programs for young carriers of the mutation.

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“…We documented intake of beta-blockers (BAB), angiotensin-converting enzyme inhibitors (ACEi), or angiotensin-receptor blockers (ARB) with medication over ≥ 1 year prior to baseline, previous ischemic neurologic events with cerebral infarction identified as persistence of a focal neurologic deficit for ≥ 24 h caused by altered cerebral circulation shown on tomographic images or with transient ischemic attack with resolution of a focal neurologic deficit ≤ 24 h [23], [31]. Ectopia lentis was present with any displacement of the lenses, or after surgery for this condition, and we assessed wrist sign, thumb sign, pectus carinatum, pectus excavatum, chest asymmetry, hindfoot deformity, plain pes planus, protrusio acetabuli, reduced upper segment/lower segment ratio, increased arm/height ratio, scoliosis or thoracolumbar kyphosis, reduced elbow, extension, facial features, pneumothorax, dural ectasia, skin striae, myopia >− 3 diopters, and MVP in all individuals to calculate the Ghent systemic score [8], [32].…”

Section: Methodsmentioning

confidence: 99%

“…Furthermore we studied the long-term outcomes of cardiovascular manifestations of MVPS and MASS in comparison with MFS. We wanted to test whether MVPS and MASS remained unaffected by aortic root complications, and we aimed to examine whether MVP evolved with similar severity as known in MFS, where MVP tends to be progressive [22], [23], [24].…”

Section: Introductionmentioning

confidence: 99%

Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse

Rippe

Backer

Kutsche

et al. 2016

IJC Heart & Vasculature

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BackgroundMitral valve prolapse syndrome (MVPS) and MASS phenotype (MASS) are Marfan-like syndromes that exhibit aortic dilatation and mitral valve prolapse. Unlike in Marfan syndrome (MFS), the presence of ectopia lentis and aortic aneurysm preclude diagnosis of MVPS and MASS. However, it is unclear whether aortic dilatation and mitral valve prolapse remain stable in MVPS or MASS or whether they progress like in MFS.MethodsThis retrospective longitudinal observational study examines clinical characteristics and long-term prognosis of 44 adults with MVPS or MASS (18 men, 26 women aged 38 ± 17 years) as compared with 81 adults with Marfan syndrome (MFS) with similar age and sex distribution. The age at final contact was 42 ± 15 years with mean follow-up of 66 ± 49 months.ResultsAt baseline, ectopia lentis and aortic sinus aneurysm were absent in MVPS and MASS, and systemic scores defined by the revised Ghent nosology were lower than in MFS (all P < .001). Unlike in MFS, no individual with MVPS and MASS developed aortic complications (P < .001). In contrast, the incidence of endocarditis (P = .292), heart failure (P = .644), and mitral valve surgery (P = .140) was similar in all syndromes. Cox regression analysis identified increased LV end-diastolic (P = .013), moderate MVR (P = .019) and flail MV leaflet (P = .017) as independent predictors of mitral valve surgery.ConclusionsThe study provides evidence that MVPS and MASS are Marfan-like syndromes with stability of aortic dilatation but with progression of mitral valve prolapse. Echocardiographic characteristics of mitral valve disease rather than the type of syndrome, predict clinical progression of mitral valve prolapse.

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FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression

Cited by 16 publications

References 32 publications

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

Chest Pain in Children With Suspected Type I Fibrillinopathy: A Case Report

Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse

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