scholarly journals Marfan Syndrome: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Rajendran Ganesh ◽  
Rajendran Vijayakumar ◽  
Haridoss Selvakumar
Keyword(s):  
Stainless Steel ◽  
Case Report ◽  
Connective Tissue ◽  
Blood Vessel ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
The Body ◽  
Tissue Protein ◽  
Fibrillin 1 ◽  
Systemic Disorder

Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Children affected by the Marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin-1. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body. A case report of Marfan syndrome has been reported with oral features. The dental problems of the child were treated under general anesthesia and a one-month review showed intact stainless steel crowns' restorations and no signs of secondary caries.

scholarly journals Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Mihir Kothari ◽  
Florence Manurung ◽  
Bhavesh Mithiya
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Simultaneous Occurrence ◽  
Autosomal Dominant Disorder ◽  
First Case ◽  
Retraction Syndrome ◽  
Congenital Cranial Dysinnervation Disorder ◽  
Duane Retraction Syndrome

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental.

Manifestações Cardiovasculares em Paciente Portador de Síndrome de Marfan: Relato de Caso / Cardiovascular Manifestations in a Patient With Marfan's Syndrome: Case Report

1970 ◽  
Vol 4 (2) ◽  
pp. 85-95
Author(s):  
Eduardo Tadeu Ramos Almeida ◽  
Fábio Sergio Ferreira Resende Fonseca ◽  
Flávia Sala Pasquinelli
Keyword(s):  
Cardiovascular Disease ◽  
Case Report ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Connective Tissue Disease ◽  
Autosomal Dominant ◽  
Patient Survival ◽  
Delayed Diagnosis ◽  
Common Disease ◽  
Dominant Inheritance

Introdução: A síndrome de Marfan (SMF) é uma doença do tecido conjuntivo, com herança autossômica dominante com incidência de 2-3 para cada 10.000 indivíduos.Casuística: Relataremos um caso de um paciente portador de Síndrome de Marfan que foi diagnosticado em nosso serviço, e que evoluiu com as alterações cardiovasculares mais importantes descritos nessa síndrome, foi devidamente tratado e acompanhado. Conhecendo-se a etiologia de caráter hereditário autossômico dominante, investigamos e descrevemos também achados cardiovasculares em outros membros da família do paciente. Discussão: A Síndrome de Marfan pode afetar vários órgãos, incluindo o esqueleto, olhos, coração e vasos sanguíneos, sendo que os dois últimos são os que possuem maior impacto na sobrevida dos pacientes. As manifestações cardiovasculares incluem a doença valvar e o acometimento da aorta. O prolapso da válvula mitral é a anormalidade mais comum, podendo acometer até 100% dos pacientes. A dilatação da raiz da aorta, apesar de menos frequente pode evoluir para dissecção, representando, portanto, a maior causa de morbimortalidade. Conclusão: A Síndrome de Marfan, apesar de ser a doença do tecido conectivo mais comum, possui um diagnóstico difícil devido a manifestações inespecíficas que podem levar a um subdiagnóstico ou um diagnóstico tardio. Palavras-chave Síndrome de Marfan; Doenças do tecido conjuntivo; Doenças cardiovasculares. Introduction: Marfan syndrome (SMF) and a connective tissue disease with autosomal dominant inheritance with an incidence of 2-3 per 10,000 individuals. Case Report: We report a case of a patient with Marfan syndrome who was diagnosed in our service and evolved with the most important cardiovascular changes described in this syndrome, was properly treated and monitored. Knowing the etiology of autosomal dominant hereditary, we also describe and  investigated cardiovascular findings in other members of the patient's family. Discussion: The Marfan Syndrome can affect various organs, including the skeleton, eyes, heart and blood vessels, and the last two are the ones that have the greatest impact on patient survival. Cardiovascular manifestations include valvular disease and involvement of the aorta. The Mitral valve prolapse and the most common abnormality and may affect up to 100% of patients. The dilation of the aortic root, although less frequently can progress to dissection, representing therefore a major cause of morbidity and mortality. Conclusion: The Marfan syndrome, despite being the most common disease of the connective tissue, has a difficult to diagnose due to nonspecific manifestations that can lead to underdiagnosis or delayed diagnosis. Keywords: Marfan syndrome, connective tissue disease, cardiovascular Disease.

scholarly journals Early-Onset Marfan Syndrome: A Case Series

2018 ◽  
Vol 08 (02) ◽  
pp. 086-090
Author(s):  
Mohanageetha Ardhanari ◽  
Deborah Barbouth ◽  
Sethuraman Swaminathan
Keyword(s):  
Heart Failure ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Case Series ◽  
Autosomal Dominant Disorder ◽  
Fibrillin 1 ◽  
Valvular Insufficiency ◽  
Multisystem Manifestations

AbstractMutations in fibrillin 1 cause Marfan syndrome (MFS), an autosomal dominant disorder of the connective tissue, with multisystem manifestations. In early-onset MFS, the physical characteristics are expressed much earlier than the classical MFS. Those affected by this form generally have their mutations restricted to the gene “hotspot” region of exons 24 to 32. Historically, affected individuals usually die within the first few years of life due to heart failure secondary to severe valvular insufficiency. We report three patients with early-onset MFS, whose clinical evolution has been remarkably positive, when compared with other reported cases in the literature.

Cysteine-to-arginine point mutation in a ‘hybrid’ eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly

1995 ◽  
Vol 108 (3) ◽  
pp. 1317-1323 ◽  
Author(s):  
C.M. Kielty ◽  
T. Rantamaki ◽  
A.H. Child ◽  
C.A. Shuttleworth ◽  
L. Peltonen
Keyword(s):  
Connective Tissue ◽  
Point Mutation ◽  
Marfan Syndrome ◽  
Connective Tissue Disease ◽  
Cell Cultures ◽  
Autosomal Dominant ◽  
Gene Encoding ◽  
Fbn1 Gene ◽  
Microfibril Assembly ◽  
Fibrillin 1

Mutations in the FBN1 gene encoding the microfibrillar glycoprotein fibrillin cause Marfan syndrome, a relatively common autosomal dominant connective tissue disease. Causative FBN1 mutations appear to be dispersed throughout the coding frame, and to date no predictable genotype: phenotype correlations have emerged. We have identified a point mutation within an eight-cysteine ‘hybrid’ motif of the fibrillin polypeptide which results in the substitution of an arginine for a cysteine, in a patient severely affected in the cardiovascular, skeletal and ocular systems. We have utilised cell cultures from various tissues of this patient to investigate the effects of this mutation on fibrillin expression and deposition, and the consequences in terms of microfibril assembly and organisation. We have established that there is no difference in the expression of normal and mutant alleles, and fibrillin synthesis, secretion and deposition are also normal. However, the rate of fibrillin aggregation is reduced and microfibrillar assemblies are both remarkably scarce and morphologically abnormal. These data clearly demonstrate that the mutated allele interferes with normal assembly, and strongly implicate this particular region of the fibrillin-1 molecule in stabilising microfibrillar assemblies.

scholarly journals A Case Report of Marfan Syndrome with Literature Review

2015 ◽  
Vol 4 (4) ◽  
pp. 269
Author(s):  
Hemanth Kumar Kalla ◽  
Swarna Kumari ◽  
CH Rama rao ◽  
MKR Parthasarathy ◽  
S Surya prakash Reddy ◽  
...  
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Clinical Signs ◽  
Connective Tissue Disorder ◽  
Multiple Organ ◽  
Review Of The Literature ◽  
Organ Systems ◽  
Loin Pain ◽  
Routine Physical Examination

Marfan syndrome(MFS) is a connective tissue disorder that affects multiple organ systems. Cardiovascular, ocular, and skeletal abnormalities are cardinal features of the syndrome. Its incidence is among the highest of any heritable disorder.Most patients who have Marfan syndrome are usually diagnosed incidentally when they present for a routine physical examination for various reasons. The purpose of this paper is to provide a review of the literature, as well as describe a 22-year-old male with MFS and right hydroureteronephrosis diagnosed incidentally when he attended our hospital for complaints of fever and right loin pain. This case report emphasizes importance of “Revised Ghent criteria” for the diagnosis of MFS and highlights various clinical signs of MFS<strong>.</strong>

scholarly journals Marfan Syndrome with Atypical Presentation: A Case Report

2014 ◽  
Vol 4 (2) ◽  
pp. 111-114
Author(s):  
Sharmin Mahbuba ◽  
Fauzia Mohsin ◽  
Rubaiya Islam ◽  
Tahmina Begum
Keyword(s):  
Case Report ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Connective Tissue Disorder ◽  
Atypical Presentation ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Excessive Sweating ◽  
Molecular Cytogenetic ◽  
Molecular Cytogenetic Techniques

Marfan syndrome is an inherited connective tissue disorder that is transmitted as an autosomal dominant trait. These cases can be diagnosed by molecular cytogenetic techniques. A modified Ghent criteria using systemic scoring system can also identify these cases in absence of molecular cytogenetic techniques.We report a case of a 6 year 5 month old boy who presented with the complaints of excessive sweating sinceinfancy and protrusion of both eye balls which was non progressive since early childhood. On examination, some skeletal features of Marfan syndrome was found and echocardiogram showed huge dilatation of root of aorta which helped in diagnosis by scoring system.Birdem Med J 2014; 4(2): 111-114

scholarly journals Gorlin's Syndrome: Case Report and Management Protocol

2009 ◽  
Vol 12 (1) ◽  
pp. 61-64
Author(s):  
R Rosti ◽  
A Irem ◽  
H Kayserili ◽  
S Yalcin
Keyword(s):  
Case Report ◽  
Basal Cell ◽  
Autosomal Dominant ◽  
The Body ◽  
Facial Appearance ◽  
Management Protocol ◽  
Gorlin’S Syndrome ◽  
Basal Cell Carcinomas ◽  
Gorlin's Syndrome ◽  
Multiple Basal Cell Carcinomas

Gorlin's Syndrome: Case Report and Management ProtocolGorlin's syndrome (GS) is a rare autosomal, dominant syndrome, characterized by multiple basal cell carcinomas, odontogenic keratocysts, a characteristic facial appearance, skeletal anomalies and malignancies of various organs throughout the body. We describe a 14-year-old girl with GS and propose a management protocol.

A Case Report of Marfan Syndrome with Literature Review

2015 ◽  
Vol 4 (4) ◽  
pp. 269
Author(s):  
Hemanth Kumar Kalla ◽  
Swarna Kumari ◽  
CH Rama rao ◽  
MKR Parthasarathy ◽  
S Surya prakash Reddy ◽  
...  
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Clinical Signs ◽  
Connective Tissue Disorder ◽  
Multiple Organ ◽  
Review Of The Literature ◽  
Organ Systems ◽  
Loin Pain ◽  
Routine Physical Examination

Marfan syndrome(MFS) is a connective tissue disorder that affects multiple organ systems. Cardiovascular, ocular, and skeletal abnormalities are cardinal features of the syndrome. Its incidence is among the highest of any heritable disorder.Most patients who have Marfan syndrome are usually diagnosed incidentally when they present for a routine physical examination for various reasons. The purpose of this paper is to provide a review of the literature, as well as describe a 22-year-old male with MFS and right hydroureteronephrosis diagnosed incidentally when he attended our hospital for complaints of fever and right loin pain. This case report emphasizes importance of “Revised Ghent criteria” for the diagnosis of MFS and highlights various clinical signs of MFS<strong>.</strong>

scholarly journals Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Ahmed Mohammad ◽  
Haytham Helmi ◽  
Paldeep S. Atwal
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome ◽  
Popliteal Artery ◽  
Artery Aneurysm ◽  
Connective Tissue Disorder ◽  
Acute Onset ◽  
The Body ◽  
Leg Pain ◽  
Popliteal Artery Aneurysm ◽  
Ct Angiogram

We present a 43-year-old man with aortic root dilation, mitral valve prolapse, and marfanoid appearance, who presented with acute onset left leg pain. He underwent a Doppler ultrasound that revealed left popliteal artery aneurysm with thrombus. CT angiogram showed bilateral popliteal artery aneurysms. After repairing of his left popliteal artery aneurysm, he was sent for genetic evaluation. He was diagnosed with Marfan syndrome (MFS) based on the revised Ghent criteria and then underwent FBN1 sequencing and deletion/duplication analysis, which detected a novel pathogenic variant in gene FBN1, denoted by c.5872 T>A (p.Cys1958Ser). MFS is a connective tissue disorder with an autosomal dominant inheritance due to pathogenic variants in FBN1 that encodes Fibrillin-1, a major element of the extracellular matrix, and connective tissue throughout the body. MFS involves multiple systems, most commonly the cardiovascular, musculoskeletal, and visual systems. In our case we present a rare finding of bilateral popliteal artery aneurysms in a male patient with MFS.

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