scholarly journals Marfan Syndrome with CRHD

2020 ◽  
Vol 5 (04) ◽  
pp. 322-326
Author(s):  
Shahood Ajaz Kakroo
Keyword(s):  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Similar Case ◽  
Extensive Search ◽  
Organ Systems ◽  
The Family ◽  
Fibrillin 1 ◽  
History Of ◽  
Mode Of Inheritance ◽  
Rheumatic Heart

AbstractMarfan syndrome (MFS) is an inheritable disorder caused by mutation of fibrillin-1 gene. It is the most common disorder among disorders of connective tissue. Its mode of inheritance is autosomal dominant. The reported prevalence of this disorder is one in three thousand (3000) to five (5000) thousand individuals. It presents with varied manifestation and different range of severity. The organ systems most commonly affected by this disorder include eyes, cardiovascular system, and musculoskeletal system.The other systems which may be affected include respiratory system, skin, and central nervous system. It is diagnosed with the help of revised Ghent score which includes a set of various diagnostic criteria which need to be fulfilled. MFS in this patient was diagnosed after the fulfillment of the revised Ghent score criteria, which included a positive history of MFS in the family and a systemic score of 8.In this case report, we are reporting a case of MFS which is unusual and remarkable in the sense that it is associated with chronic rheumatic heart disease (CRHD), and not the cardiovascular features which are usually present in cases of MFS. We tried to find a similar case if ever reported previously and, after extensive search, we could find only few cases13 14 15 of MFS which were associated with CRHD.

scholarly journals REHABILITASI MEDIK PADA SINDROM MARFAN

2014 ◽  
Vol 6 (3) ◽  
Author(s):  
Drahma Kusmarwaty ◽  
Theresia I. Mogi
Keyword(s):  
Marfan Syndrome ◽  
Clinical Manifestations ◽  
Joint Hypermobility ◽  
Functional Training ◽  
Physical Strength ◽  
Organ Systems ◽  
The Family ◽  
Fibrillin 1 ◽  
Musculoskeletal Systems ◽  
Dominant Condition

Abstract: Marfan Syndrome (MS) is an autosomal dominant condition of the connective tissue that involves the ocular, cardiovascular and musculoskeletal systems. MS is caused by mutations in the fibrillin-1 gene, leading to joint ligaments flaccidity, joint hypermobility and overgrowth of the long bones. The diagnosis of MS is confirmed by using the Ghent nosology,through a comprehensive assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the family history. The management of MS done with collaboration of team genetic clinic, cardiovascular, orthopedic, eye, and rehabilitation. The aims of rehabilitation of MS patients are to increase pulmonary function, improve exercise endurance, increases bone density, physical strength, prevent scoliosis, education about functional training on activity daily living.Keywords: Marfan syndrome, management, team rehabilitationAbstrak: Sindrom Marfan (SM) adalah autosom dominan dari jaringan ikat yang melibatkan ocular, kardiovaskular dan sistem musculoskeletal. Penyebab SM adalah mutasi dari gen fibrillin-1, yang menyebabkan flaccid ligamen sendi, hipermobilitas sendi dan overgrowth dari tulang panjang. Diagnosis dari SM dengan Ghent nosology, melalui penilaian secara menyeluruh berdasarkan kombinasi dari manifestasi klinik mayor dan minor pada sistem organ dan riwayat keluarga. Penanganan SM dilakukan dengan kolaborasi tim antara lain klinik genetik, kardiovaskular, orthopedi, mata, dan tim rehabilitasi. Tujuan dari rehabilitasi pada SM adalah meningkatkan fungsi paru, meningkatkan ketahanan latihan, meningkatkan densitas tulang, ketahanan fisik, mencegah skoliosis, edukasi mengenai functional training pada aktivitas kehidupan sehari-hari.Kata kunci: sindrom Marfan, penanganan, tim rehabilitasi

scholarly journals Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance.

Thorax ◽  
1998 ◽  
Vol 53 (2) ◽  
pp. 151-152 ◽  
Author(s):  
P J Morrison ◽  
R C Lowry ◽  
N C Nevin
Keyword(s):  
Spontaneous Pneumothorax ◽  
Autosomal Dominant ◽  
Age Of Onset ◽  
Autosomal Dominant Inheritance ◽  
Clinical Entity ◽  
Primary Spontaneous Pneumothorax ◽  
Dominant Inheritance ◽  
Distinct Clinical Entity ◽  
The Family ◽  
Mode Of Inheritance

A family exhibiting spontaneous pneumothorax in a father and three offspring (two sons, and one daughter) is described. The mode of inheritance is apparently autosomal dominant with two episodes of male to male transmission in one family. The age of onset varied by up to 13 years within the family. Isolated autosomal dominant pneumothorax appears to be a distinct clinical entity.

Familial Bell's Palsy: Analysis of 25 Families

1988 ◽  
Vol 97 (6_suppl3) ◽  
pp. 8-10 ◽  
Author(s):  
Naoaki Yanagihara ◽  
Eiji Yumoto ◽  
Toyohiro Shibahara
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Bell’S Palsy ◽  
Autosomal Dominant Inheritance ◽  
Dominant Inheritance ◽  
Bell's Palsy ◽  
History Of ◽  
Mode Of Inheritance

Of 625 patients with Bell's palsy, 26 from 25 families (4.0%) had a positive family history of Bell's palsy. Genealogic analysis of the families indicated the mode of inheritance of familial Bell's palsy possibly to be autosomal dominant inheritance with low penetration. The prognosis of familial Bell's palsy was generally favorable. Age, sex, recurrence, and inherited factors are discussed.

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 Down syndrome with co-occurring Marfan syndrome

2020 ◽  
Vol 13 (9) ◽  
pp. e235988
Author(s):  
Miao Wei ◽  
Natasha Lepore ◽  
Kelli Paulsen ◽  
Jonathan D Santoro
Keyword(s):  
Down Syndrome ◽  
Medical Care ◽  
Marfan Syndrome ◽  
Trisomy 21 ◽  
Genetic Disorders ◽  
Close Monitoring ◽  
Genetic Syndromes ◽  
Organ Systems ◽  
Fibrillin 1 ◽  
Musculoskeletal Systems

Down syndrome (DS) and Marfan syndrome (MFS) are two unique genetic disorders that share limited phenotypic overlap. There are very few reported cases in the existing literature on overlapping DS and MFS. Although these two disorders are phenotypically unique, features present in these cases are variable, resulting in mixed and dominant expressions of particular features. We present the first adolescent case of trisomy 21 associated DS and fibrillin-1 gene associated MFS in the literature who had a height at 90th percentile for an 11-year old boy and discuss the implications of this case in terms of future medical care when these two genetic syndromes are present in the same individual. Understanding of certain features of the ‘non-dominating’ syndrome is crucial for clinicians to recognise when DS co-occurs with MFS. Close monitoring of the cardiovascular, ophthalmologic and musculoskeletal systems is recommended if both syndromes are diagnosed given that both can be independently associated with disorders in these organ systems.

scholarly journals De novo arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia

2016 ◽  
Vol 17 (3) ◽  
pp. 330-335 ◽  
Author(s):  
Yusuke Shimoda ◽  
Toshiya Osanai ◽  
Naoki Nakayama ◽  
Satoshi Ushikoshi ◽  
Masaaki Hokari ◽  
...  
Keyword(s):  
Family History ◽  
Arteriovenous Malformation ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Autosomal Dominant ◽  
De Novo ◽  
The Family ◽  
Systemic Disorder ◽  
History Of ◽  
Cerebral Avms

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant systemic disorder characterized by the enlargement of capillaries, recurrent nosebleeds, and multiple arteriovenous malformations (AVMs). Although cerebral AVMs are traditionally considered to be congenital lesions, some reports have described de novo AVMs, which suggests that the authors believed them to be dynamic conditions. In this article, the authors describe the case of a 5-year-old boy with HHT in whom a de novo cerebral AVM was detected after a negative MRI result at 5 months. To the authors’ knowledge, this is the first report of a de novo AVM in a patient with HHT. In patients with a family history of HHT, de novo AVMs are possible, even when no lesions are detected at the first screening. Therefore, regular screenings need to be performed, and the family should be informed that AVMs could still develop despite normal MRI results.

MARFAN SYNDROME AND PREGNANCY: CLINICAL IMPLICATIONS AND MANAGEMENT

2010 ◽  
Vol 21 (3) ◽  
pp. 225-241
Author(s):  
ARIADNA C GRIGORIU ◽  
JACK COLMAN ◽  
CANDICE K SILVERSIDES ◽  
RACHEL WALD ◽  
SAMUEL C SIU ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
De Novo ◽  
Connective Tissue Disorder ◽  
Multiple Organ ◽  
Clinical Implications ◽  
Organ Systems

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that affects multiple organ systems, primarily the cardiovascular, ocular and skeletal. It is the most common inherited condition affecting the heart and the aorta, occurring in 1:5000–1:9800 people. There is no ethnic or gender predisposition; 20 to 35% of cases arise fromde novomutations.

scholarly journals Genetic analysis of the contribution of LTBP-3 to thoracic aneurysm in Marfan syndrome

2015 ◽  
Vol 112 (45) ◽  
pp. 14012-14017 ◽  
Author(s):  
Lior Zilberberg ◽  
Colin K. L. Phoon ◽  
Ian Robertson ◽  
Branka Dabovic ◽  
Francesco Ramirez ◽  
...  
Keyword(s):  
Aortic Aneurysm ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Aortic Disease ◽  
Elastic Fibers ◽  
Thoracic Aneurysm ◽  
Tgfβ Signaling ◽  
Autosomal Dominant Disorder ◽  
Present Evidence ◽  
Fibrillin 1

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, caused by mutations of the microfibrillar protein fibrillin-1, that predisposes affected individuals to aortic aneurysm and rupture and is associated with increased TGFβ signaling. TGFβ is secreted from cells as a latent complex consisting of TGFβ, the TGFβ propeptide, and a molecule of latent TGFβ binding protein (LTBP). Improper extracellular localization of the latent complex can alter active TGFβ levels, and has been hypothesized as an explanation for enhanced TGFβ signaling observed in MFS. We previously reported the absence of LTBP-3 in matrices lacking fibrillin-1, suggesting that perturbed TGFβ signaling in MFS might be due to defective interaction of latent TGFβ complexes containing LTBP-3 with mutant fibrillin-1 microfibrils. To test this hypothesis, we genetically suppressed Ltbp3 expression in a mouse model of progressively severe MFS. Here, we present evidence that MFS mice lacking LTBP-3 have improved survival, essentially no aneurysms, reduced disruption and fragmentation of medial elastic fibers, and decreased Smad2/3 and Erk1/2 activation in their aortas. These data suggest that, in MFS, improper localization of latent TGFβ complexes composed of LTBP-3 and TGFβ contributes to aortic disease progression.

Antithrombin III “Northwick Park”: A Variant Antithrombin with Normal Affinity for Heparin but Reduced Heparin Cofactor Activity

1985 ◽  
Vol 53 (03) ◽  
pp. 314-319 ◽  
Author(s):  
D J Howarth ◽  
Diana Samson ◽  
Yvonne Stirling ◽  
M J Seghatchian
Keyword(s):  
Venous Thrombosis ◽  
Fast Moving ◽  
Autosomal Dominant ◽  
Antithrombin Iii ◽  
Two Dimensional ◽  
Antithrombin Activity ◽  
The Family ◽  
At Iii ◽  
History Of ◽  
Cofactor Activity

SummaryFurther studies have been carried out in a previously reported family with congenital antithrombin III (AT III) deficiency due to an abnormal variant of AT III (AT III Northwick Park). The variant has been identified in five members of the family, three of whom had a history of venous thrombosis. Inheritance followed an autosomal dominant pattern. The affected family members have reduced levels of antithrombin heparin cofactor (41–67%) and progressive antithrombin activity (44–62%) but normal levels of immunoreactive AT III (91–162%). Two dimensional immunoelectrophoresis (2 DIE) of AT III in the absence of heparin revealed an abnormal fast-moving peak in addition to the normal peak but 2 DIE in the presence of heparin appeared normal. Further studies confirmed that the abnormal AT III binds completely to heparin but has no heparin cofactor or progressive antithrombin activity. These results would be consistent with a mutation affecting the binding site for thrombin.

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.

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