scholarly journals A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team

2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
Elliott J. Carande ◽  
Samuel J. Bilton ◽  
Satish Adwani
Keyword(s):  
Marfan Syndrome ◽  
Surgical Intervention ◽  
Rare Condition ◽  
Mitral Valve Regurgitation ◽  
Left Ventricular ◽  
Cardiac Complications ◽  
Chromosome 15 ◽  
Fibrillin 1 ◽  
Neonatal Marfan Syndrome

Neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14-month-old girl diagnosed with nMFS at 5 months of age. Her diagnosis followed the identification of a fibrillin-1 mutation (FBN1gene, exon 26, chromosome 15), which is a common locus of nMFS. This patient developed severe cardiac complications resulting in congestive cardiac failure in early life and required major cardiac surgery. Since surgical intervention, our patient is still reliant on a degree of ventilator support, but the patient has gained weight and echocardiography has demonstrated improved left ventricular function and improved tricuspid and mitral valve regurgitation. Therefore, we argue the importance of a cautious multidisciplinary approach to early surgical intervention in cases of nMFS.

Neonatal Marfan syndrome with missense variant of c.3706T>C undergoing bilateral atrioventricular valve replacement

2021 ◽  
pp. 1-4
Author(s):  
Junpei Kawamura ◽  
Kentaro Ueno ◽  
Yoshifumi Kawano
Keyword(s):  
Marfan Syndrome ◽  
Valve Replacement ◽  
Tricuspid Valve ◽  
Rare Condition ◽  
Missense Variant ◽  
Tricuspid Valve Replacement ◽  
Genetic Syndrome ◽  
Fibrillin 1 ◽  
Valve Insufficiency ◽  
Neonatal Marfan Syndrome

Abstract Neonatal Marfan syndrome is a rare condition with poor prognosis because of severe mitral and/or tricuspid valve insufficiency. Mitral valve replacement is sometimes required in early infancy, while tricuspid valve replacement is rarely done. We report the first infant neonatal Marfan syndrome case with a missense variant of c.3706T>C in the fibrillin-1 gene that was successfully managed by mitral and tricuspid valve replacement. Early multiple-valve replacement may sometimes be required during infant age in this genetic syndrome.

scholarly journals Neonatal Marfan Syndrome

2019 ◽  
Vol 36 (S 02) ◽  
pp. S74-S76 ◽  
Author(s):  
Eleonora Tognato ◽  
Anna Perona ◽  
Angela Aronica ◽  
Antonella Bertola ◽  
Lina Cimminelli ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Rare Condition ◽  
Ocular Involvement ◽  
Autosomal Dominant Disorder ◽  
Adequate Treatment ◽  
Pathogenic Variants ◽  
Fibrillin 1 ◽  
Birth Characteristics ◽  
Neonatal Marfan Syndrome ◽  
Male Neonate

Abstract Objective The Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue resulting from pathogenic variants of the fibrillin-1 gene (FBN1) with skeletal, cardiac, and ocular involvement. Study Design We report on a full-term male neonate, who showed at birth characteristics and dysmorphisms suggestive of nMFS, combined with the detection of severe cardiovascular disease. A multidisciplinary team made up of neonatologists and pediatricians, cardiologists, geneticists, ophtalmologists, physiatrists and physioterapists was formed to manage this patient. Results and Conclusion Early diagnosis of this rare condition is critical for adequate treatment and specific follow-up, and impacts significantly on prognosis.

The role of cardiac surgery in transvenous lead extraction (TLE) – experience from high volume center and 3207 procedures

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
L Tulecki ◽  
M Czajkowski ◽  
S Targonska ◽  
K Tomkow ◽  
D Nowosielecka ◽  
...  
Keyword(s):  
Cardiac Surgery ◽  
Tricuspid Valve ◽  
Surgical Intervention ◽  
Clinical Success ◽  
Left Ventricular ◽  
Lead Extraction ◽  
Icd Leads ◽  
Ventricular Lead ◽  
Cardiac Surgeon

Abstract Background The guidelines suggest close co-operation between TLE operating team and cardiac surgery and its key role in the management of life-threatening complications remains unquestionable. But the role of cardiac surgeon seems to be much more extended. Purpose We have analysed the role of cardiac surgery in treatment of patients undergoing TLE procedures. Methods Using standard non-powered mechanical systems we have extracted ingrown PM/ICD leads from 3207 pts (38,7% female, average age 65,7-y) during the last 14 years. Non-infectious TLE indications were in 66,4% of patients. 46% had PM DDD system, 19% PM SSI, 22% ICD, 9% CRT, 4% other systems. In 12% of patients abandoned leads were found. 8% of patients had one lead, 54% - two, 15% - three and 4% - 4–6 leads in the heart. An average dwell time of all leads was 91,5 mth. The lead entry side was left in 96% of patients, right in 3% and both – 4%. Results Procedural success 96,1%, clinical success - 97,8%, procedure-related death 0,2%. Major complications appeared in 1,9% (cardiac tamponade 1,2%, haemothorax 0,2%, tricuspid valve damage 0,3%, stroke, pulmonary embolism <1%). Conclusions Rescue cardiac surgery (for severe haemorrhagic complications) is still the most frequent reason of surgical intervention (1,1%). The second area of co-operation includes supplementary cardiac surgery after (incomplete) TLE (0,8%). The third one is connected with reconstruction or replacement of tricuspid valve, which can be affected by ingrown lead or damaged during TLE procedure (0,5%). Implantation of the complete epicardial system during any surgical intervention (rescue or delayed) should be considered as a supplementation of the operation (0,65%). Some of patients after TLE need implantation of epicardial leads for permanent epicardial pacing (0,6%) and some only left ventricular lead to rebuild permanent cardiac resynchronisation (0,5%). The single experience of large TLE centre indicates the necessity of close co-operation with cardiac surgeon, whose role seems to be more comprehensive than a surgical stand-by itself. Table 1 Funding Acknowledgement Type of funding source: None

Novel exon skipping mutation in the fibrillin-1 gene: Two ‘hot spots’ for the neonatal Marfan syndrome

1999 ◽  
Vol 55 (2) ◽  
pp. 110-117 ◽  
Author(s):  
Patrick Booms ◽  
Jason Cisler ◽  
Kurt R. Mathews ◽  
Maurice Godfrey ◽  
Frank Tiecke ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Hot Spots ◽  
Exon Skipping ◽  
Fibrillin 1 ◽  
Neonatal Marfan Syndrome ◽  
Novel Exon

scholarly journals Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.

1996 ◽  
Vol 33 (9) ◽  
pp. 760-763 ◽  
Author(s):  
M Wang ◽  
P Kishnani ◽  
M Decker-Phillips ◽  
S G Kahler ◽  
Y T Chen ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Double Mutant ◽  
Fibrillin 1 ◽  
Neonatal Marfan Syndrome

Abstract 11621: Fibrillin-1 Gene Mutations in Left Ventricular Non-Compaction Cardiomyopathy

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
John J Parent ◽  
Jeffrey A Towbin ◽  
John L Jefferies
Keyword(s):  
Extracellular Matrix ◽  
Gene Mutation ◽  
Marfan Syndrome ◽  
Gene Mutations ◽  
Left Ventricular ◽  
Current Evidence ◽  
Causative Gene ◽  
Fbn1 Gene ◽  
Gene Testing ◽  
Fibrillin 1

Introduction: Left ventricular non-compaction cardiomyopathy (LVNC) is a rare and unique cardiomyopathy. Its presentation can range from a benign phenotype to overt heart failure and sudden cardiac death. The genetics of LVNC are not completely understood and current genetic testing has a yield of about 30% in identifying a causative gene mutation. We present a series of patients with LVNC and fibrillin-1 (FBN1) gene mutations. Hypothesis: We hypothesize that FBN1 gene mutations can lead to LVNC by way of its role in the myocardial extracellular matrix during cardiac development. Methods: A retrospective review of all patients with LVNC at our institution was performed for purposes of another investigation. The process unexpectedly identified patients with LVNC and FBN1 gene mutations, as well as LVNC and Marfan syndrome. Results: Approximately 150 patients are followed in our clinic with LVNC. We screened this population and found 51 patients on medical therapy for reduced function. We retrospectively reviewed gene testing in these 51 patients, when available, and identified 5 patients (10%) with an FBN1 gene mutation. All 5 patients had a dilated LVNC phenotype and previous or current evidence of left ventricular dysfunction. Syndrome breakdown as follows: 3 with Marfan, 1 with Shprintzen-Goldberg, and 1 with no identifiable syndrome. Dilated cardiomyopathy/LVNC gene testing was performed in 3 patients; 2 had disease causing myosin heavy chain 7 gene defects and 1 had no defects. Conclusions: The role of FBN1 in the human myocardium is not completely understood but it is expressed in the developing fetal heart and is a component of the myocardial extracellular matrix. Although causation has not been proven by our report, it certainly raises interest in a mechanistic relationship between LVNC and FBN1 given the increased prevalence of Marfan syndrome and probable increased prevalence of FBN1 gene mutations in this cohort of LVNC patients in light of FBN1.

Novel Fibrillin 1 Mutation in a Case of Neonatal Marfan Syndrome: The Increasing Importance of Early Recognition

2007 ◽  
Vol 2 (5) ◽  
pp. 342-346 ◽  
Author(s):  
Jamie Sutherell ◽  
Yuri Zarate ◽  
Bradley T. Tinkle ◽  
Larry W. Markham ◽  
Linda H. Cripe ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Early Recognition ◽  
Fibrillin 1 ◽  
Neonatal Marfan Syndrome

A Point Mutation Creating an ExtraN-Glycosylation Site in Fibrillin-1 Results in Neonatal Marfan Syndrome

Genomics ◽  
1996 ◽  
Vol 36 (3) ◽  
pp. 468-475 ◽  
Author(s):  
Lasse Lönnqvist ◽  
Leena Karttunen ◽  
Terhi Rantamäki ◽  
Cay Kielty ◽  
Michael Raghunath ◽  
...  
Keyword(s):  
Point Mutation ◽  
Marfan Syndrome ◽  
Glycosylation Site ◽  
Fibrillin 1 ◽  
Neonatal Marfan Syndrome

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

2021 ◽  
Vol 12 ◽  
Author(s):  
Pauline Arnaud ◽  
Zakaria Mougin ◽  
Catherine Boileau ◽  
Carine Le Goff
Keyword(s):  
Marfan Syndrome ◽  
Wide Spectrum ◽  
Genetic Data ◽  
Mirror Image ◽  
Pathogenic Mechanism ◽  
Unique Combination ◽  
Multisystem Disease ◽  
Fibrillin 1 ◽  
Joint Limitation

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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