Echocardiographic versus Histologic Findings in Marfan Syndrome

Gu, Xiaoyan; He, Yihua; Li, Zhian; Han, Jiancheng; Chen, Jian; Nixon, J.V.

doi:10.14503/thij-13-3848

Cited by 21 publications

(27 citation statements)

References 25 publications

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“…It is a connective tissue disorder first reported in a 5.5-year-old girl in 1896 (7). In this syndrome, ocular involvement is seen as ectopia lentis and the patients predispose to retinal detachment (8) and cardiovascular disorders such as mitral (9, 10) and aortic valve disease (11), coarctation of the aorta, atrial sep-tal defect, pulmonary artery stenosis, patent ductus arteriosus, and persistent left superior vena cava present in infancy (7). The current case report introduced a patient with the concurrency of ocular involvement in the form of keratoglobus and cardiac involvement in the form of hypertrophic obstructive cardiomyopathy, which is a rare associated anomaly.…”

Section: Discussionmentioning

confidence: 99%

Keratoglobus Associated with Hypertrophic Cardiomyopathy: A Case Report of a Concomitant Disorder of Heart and Eye

Alizadehasl¹,

Sadeghpour²,

Akiash³

et al. 2016

Arch Cardiovasc Imaging

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A 30-year-old woman was referred to our department for a cardiology visit. She had a medical history of ophthalmologic disorders. Her chief complaints were dyspnea, lightheadedness, and fainting after the Valsalva maneuver. Physical examination showed systolic murmurs at the left upper sternal border as well as corneal thinning and bulging in the 2 eyes. Transthoracic echocardiography revealed local significant hypertrophy in the base of the interventricular septum with significant left ventricular outflow obstruction and severe mitral regurgitation.

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Section: Discussionmentioning

confidence: 99%

Keratoglobus Associated with Hypertrophic Cardiomyopathy: A Case Report of a Concomitant Disorder of Heart and Eye

Alizadehasl¹,

Sadeghpour²,

Akiash³

et al. 2016

Arch Cardiovasc Imaging

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“…Mitral and tricuspid valves were examined in a four-chamber view, parasternal long axis, and parasternal short axis. Tricuspid valve prolapse (TVP) is defined as valvular thickening and prolapse with chordal elongation involving all three leaflets [18]. Mitral valve prolapse (MVP) in adolescents and adults is defined with leaflet thickening exceeding 5 mm and systolic prolapse of a leaflet into the atrium of more than 2 mm [19].…”

Section: Clinical Examinationmentioning

confidence: 99%

Genotype–Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care

Stark¹,

Hensen²,

Kutsche

et al. 2020

Genes

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Currently, no reliable genotype–phenotype correlation is available for pediatric Marfan patients in everyday clinical practice. We investigated correlations of FBN1 variants with the prevalence and age of onset of Marfan manifestations in childhood and differentiated three groups: missense/in-frame, splice, and nonsense/frameshift variants. In addition, we differentiated missense variants destroying or generating a cysteine (cys-missense) and alterations not affecting cysteine. We categorized 105 FBN1-positive pediatric patients. Patients with cys-missense more frequently developed aortic dilatation (p = 0.03) requiring medication (p = 0.003), tricuspid valve prolapse (p = 0.03), and earlier onset of myopia (p = 0.02) than those with other missense variants. Missense variants correlated with a higher prevalence of ectopia lentis (p = 0.002) and earlier onset of pulmonary artery dilatation (p = 0.03) than nonsense/frameshift, and dural ectasia was more common in the latter (p = 0.005). Pectus excavatum (p = 0.007) appeared more often in patients with splice compared with missense/in-frame variants, while hernia (p = 0.04) appeared earlier in the latter. Findings on genotype–phenotype correlations in Marfan-affected children can improve interdisciplinary therapy. In patients with cys-missense variants, early medical treatment of aortic dilatation seems reasonable and early regular ophthalmologic follow-up essential. Patients with nonsense/frameshift and splice variants require early involvement of orthopedic specialists to support the growing child.

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“…(2) Tricuspid valve prolapse presents with echocardiographic features of valvular thickening and prolapse with chordal elongation which involves all 3 leaflets. Histologic examination revealed findings consistent with valvular thickening and myxomatous degeneration [50]. (3) Concurrent involvement of the mitral and the tricuspid valves appears to be common in Marfan syndrome [50].…”

Section: Tricuspid Valve Diseasementioning

confidence: 99%

“…Histologic examination revealed findings consistent with valvular thickening and myxomatous degeneration [50]. (3) Concurrent involvement of the mitral and the tricuspid valves appears to be common in Marfan syndrome [50]. (4) Progression of the severity from mild to moderate or severe regurgitation occurs only in a small fraction of affected individuals [19].…”

Section: Tricuspid Valve Diseasementioning

confidence: 99%

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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Echocardiographic versus Histologic Findings in Marfan Syndrome

Cited by 21 publications

References 25 publications

Keratoglobus Associated with Hypertrophic Cardiomyopathy: A Case Report of a Concomitant Disorder of Heart and Eye

Keratoglobus Associated with Hypertrophic Cardiomyopathy: A Case Report of a Concomitant Disorder of Heart and Eye

Genotype–Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care

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

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