The impact of Marfan syndrome on an Aboriginal Australian family: ‘I don’t like it as much as I don’t like cancer’

2021 ◽  
Author(s):  
Aideen M. McInerney‐Leo ◽  
Jennifer West ◽  
Bettina Meiser ◽  
Malcolm West ◽  
Maree R. Toombs ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Australian Family ◽  
The Impact

Abstract 9979: Health-Related Quality of Life in Children With Marfan Syndrome

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Jill C Handisides ◽  
Danielle Hollenbeck-Pringle ◽  
Karen Uzark ◽  
Felicia L Trachtenberg ◽  
Victoria L Pemberton ◽  
...  
Keyword(s):  
Quality Of Life ◽  
At Risk ◽  
Marfan Syndrome ◽  
Aortic Root ◽  
Sample Mean ◽  
Population Norms ◽  
Patient Reported ◽  
Health Related ◽  
The Impact

Background: Marfan syndrome (MFS) is an autosomal dominant disorder that affects the heart, aorta, eyes, skeleton, lungs, and other organs. Objective: To assess quality of life (QL) in a large multicenter cohort of children with MFS. Methods: The Pediatric Quality of Life Inventory (PedsQL) was administered to 256 subjects with MFS ages 5-18 years as an ancillary study to the Pediatric Heart Network’s Marfan Trial, which compared the effects of atenolol vs. losartan on aortic root growth. PedsQL scores were compared to population norms by one-sample t-tests. Scores > 1 SD below the population sample mean represent at-risk status for impaired health-related QL. The impact of treatment arm (atenolol vs. losartan), severity of clinical features, and patient-reported symptoms on QL was assessed by general linear models. Results: The subjects had a mean age of 11.8±3.9 years and were 62% male, 84% white, and 88% non-Hispanic. Mean PedsQL scores for MFS subjects were significantly lower than population norms. Overall, scores were in the impaired range for physical QL and psychosocial QL in 34% and 27% of subjects, respectively. QL across multiple domains correlated negatively with frequency of patient-reported symptoms (r=0.32-0.40, p<.0001). Subjects with a reported neurodevelopmental disorder (mainly learning disability, attention deficit disorder, and/or hyperactivity) had lower mean QL scores (5.5-7.4 lower, p<.04). There were no significant differences in QL scores between treatment arms. We found no significant association between QL and aortic root z-score, extent of skeletal involvement, or presence of ectopia lentis. Conclusions: Children with MFS are at risk for impaired QL. Higher number of patient-reported symptoms had the greatest negative impact on QL, rather than treatment arm or severity of cardiac, skeletal, or ocular findings. Future interventions to address patient symptoms and neurodevelopmental disorders could improve QL for children with MFS.

Abstract 4688: The Impact of Marfan Syndrome on Arterial Stiffness and Endothelial Function: The Role of Matrix Metalloproteinases

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Stella Brilli ◽  
Dimitris Tousoulis ◽  
Charalambos Antoniades ◽  
George Hatzis ◽  
Nikos Ioakeimidis ◽  
...  
Keyword(s):  
Matrix Metalloproteinases ◽  
Arterial Stiffness ◽  
Endothelial Function ◽  
Marfan Syndrome ◽  
Augmentation Index ◽  
Flow Mediated Dilation ◽  
Arterial Tree ◽  
Augmentation Pressure ◽  
The Impact

Background: Marfan syndrome is characterised by high risk of aortic dissections and increased cardiovascular risk. However, the impact of Marfan syndrome on endothelial function and arterial stiffness is unclear, while the role of matrix metalloproteinases is unknown. We examined the impact of Marfan syndrome on the elastic properties of the arterial tree, and vascular endothelial function, and we evaluated the potential role of matrix metalloproteinases in these effects. Methods: The study population consisted of 17 subjects with Marfan syndrome, aged 26.6±2.3 years old, with BMI 20.5±1.03Kg/m2 and 22 healthy individuals matched for gender, age (26.4±0.78 years old, p=NS) and BMI (22.4±0.86 Kg/m2). Arterial stiffness was evaluated by measuring carotid-femoral pulse wave velocity (PWV), while augmentation pressure and augmentation index (AIx) were also determined, as measures of arterial wave reflections. Endothelial function was evaluated by determining flow mediated dilation (FMD) in the brachial artery while matrix metalloproteinase 9 (MMP-9) levels were determined by ELISA. Results: Patients with Marfan syndrome had significantly lower pulse pressure in the radial artery (41.0±1.07mmHg) compared to controls (51.3±4.4mmHg). In addition, patients had higher AIx (17.6±2.4%) and augmentation pressure (5.44±0.65mmHg) compared to controls (7.72±3.43% and 2.41±1.14mmHg respectively, p<0.05 for both). However, the difference in PWV between patients and controls did not reach statistical significance (6.33±0.33 vs 5.96±0.23m/s respectively, p=NS). Patients with Marfan syndrome had lower FMD (2.05±1.13%) and higher plasma MMP-9 (827±70ng/ml) compared to controls (6.8±2.3% p<0.05 and 326±50ng/ml, p<0.01). Conclusions: Marfan syndrome is associated with increased MMP-9 levels, as well as with elevated augmentation index and augmentation pressure compared to healthy individuals, matched for age, gender and body mass index. Moreover, flow-mediated dilation is also impaired in these subjects. These findings suggest that Marfan syndrome directly affects the elastic properties and endothelial function of the arterial tree, with matrix metalloproteinases being important mediators in the pathophysiology of this syndrome.

scholarly journals Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome

2019 ◽  
Vol 7 (8) ◽  
Author(s):  
Laura Muiño‐Mosquera ◽  
Fré Bauters ◽  
Karlien Dhondt ◽  
Hans De Wilde ◽  
Luc Jordaens ◽  
...  
Keyword(s):  
Cardiovascular Risk ◽  
Sleep Apnea ◽  
Marfan Syndrome ◽  
The Impact

scholarly journals Marfan syndrome in childhood: parents’ perspectives of the impact on daily functioning of children, parents and family; a qualitative study

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Jessica Warnink-Kavelaars ◽  
Anita Beelen ◽  
Sarah Dekker ◽  
Frans Nollet ◽  
Leonie A. Menke ◽  
...  
Keyword(s):  
Qualitative Study ◽  
Marfan Syndrome ◽  
Daily Functioning ◽  
The Impact

scholarly journals Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression

Genes ◽  
2018 ◽  
Vol 9 (9) ◽  
pp. 421 ◽  
Author(s):  
Louise Benarroch ◽  
Mélodie Aubart ◽  
Marie-Sylvie Gross ◽  
Marie-Paule Jacob ◽  
Pauline Arnaud ◽  
...  
Keyword(s):  
Gene Expression ◽  
Marfan Syndrome ◽  
Messenger Rna ◽  
Calcium Influx ◽  
Surrogate Endpoint ◽  
Connective Tissue Disorder ◽  
Eqtl Analysis ◽  
Chromosome 11 ◽  
Fbn1 Gene ◽  
The Impact

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that displays a great clinical variability. Previous work in our laboratory showed that fibrillin-1 (FBN1) messenger RNA (mRNA) expression is a surrogate endpoint for MFS severity. Therefore, an expression quantitative trait loci (eQTL) analysis was performed to identify trans-acting regulators of FBN1 expression, and a significant signal reached genome-wide significant threshold on chromosome 11. This signal delineated a region comprising one expressed gene, SLN (encoding sarcolipin), and a single pseudogene, SNX7-ps1 (CTD-2651C21.3). We first investigated the region and then looked for association between the genes in the region and FBN1 expression. For the first time, we showed that the SLN gene is weakly expressed in skin fibroblasts. There is no direct correlation between SLN and FBN1 gene expression. We showed that calcium influx modulates FBN1 gene expression. Finally, SLN gene expression is highly correlated to that of the neighboring SNX7-ps1. We were able to confirm the impact of calcium influx on FBN1 gene expression but we could not conclude regarding the role of sarcolipin and/or the eQTL locus in this regulation.

scholarly journals The correlation between spinal and chest wall deformities and pulmonary function in Marfan syndrome

2020 ◽  
Vol 14 (4) ◽  
pp. 343-348
Author(s):  
Hila Otremski ◽  
Roger F. Widmann ◽  
Mary F. Di Maio ◽  
Dror Ovadia
Keyword(s):  
Pulmonary Function ◽  
Chest Wall ◽  
Marfan Syndrome ◽  
Negative Correlation ◽  
Spinal Deformity ◽  
Strong Positive Correlation ◽  
Chest Wall Deformity ◽  
Moderate Negative Correlation ◽  
The Impact ◽  
The Relationship

Purpose Scoliosis, chest wall deformities and pulmonary involvement are common features of Marfan syndrome (MFS). We aimed to assess the impact of spinal and chest wall deformities on pulmonary function in paediatric MFS patients with a surgically managed spinal deformity. Methods In this multicentre retrospective study, spirometry, lung volumes and radiographic imaging were performed on 26 MFS patients between the ages of seven and 18 years who were undergoing planned spinal fusion surgery for spinal deformity. A correlation analysis assessed the relationship between radiographic measurements of spinal and chest wall deformities and predicted total lung capacity (TLC), forced vital capacity (FVC) and the ratio between forced expiratory volume in one second and FVC (FEV1/FVC). Results In total, 18 patients (70%) had impaired pulmonary function. Thoracic kyphosis (mean 19.3°; -32° to 54°) had a strong positive correlation with FEV1/FVC (r = 0.65; p < 0.001). Significant decrease in FEV1/FVC below 80% occurred at kyphosis under 15° (p = 0.004). Kyphosis had a moderate negative correlation with FVC (r = -0.43; p = 0.03). Chest wall deformity had a strong negative correlation with FEV1/FVC (r = -0.61; p = 0.001). The magnitude of the thoracic curve (mean 55.2°; 28° to 92°) had a significant moderate negative correlation with TLC (r = -0.45; p = 0.04). Conclusion In MFS, three factors correlate with decreased pulmonary function measures: hypokyphosis, increasing chest wall deformity and increasing coronal curve magnitude. Hypokyphosis and increased chest wall deformity correlated with diminished FEV1/FVC; increasing thoracic spinal curvature with diminished TLC. Further analysis with a larger cohort will help better define the relationship between these deformities and pulmonary function in this unique population. Level of Evidence IV

scholarly journals American and Australian family experiences while receiving a diagnosis or having treatment for idiopathic toe walking: a qualitative study

BMJ Open ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. e035965
Author(s):  
Cylie Williams ◽  
Kristy Robson ◽  
Verity Pacey ◽  
Kelly Gray
Keyword(s):  
Qualitative Study ◽  
Health Professionals ◽  
Interpretative Phenomenological Analysis ◽  
Treatment Options ◽  
Australian Family ◽  
Semistructured Interviews ◽  
Idiopathic Toe Walking ◽  
The Usa ◽  
The Impact ◽  
Toe Walking

ObjectiveTo understand parent journeys while navigating diagnosis, assessment or treatment of their children with idiopathic toe walking (ITW).DesignMixed methods qualitative study: analyses of survey data from the measure of processes of care-20 (MPOC-20) and semistructured interviews were analysed with an interpretative phenomenological analysis approach. Trustworthiness of data was achieved through member checking, researcher triangulation, reflexivity and transferability and comparison with the MPOC-20 results.SettingUSA and Australia.ParticipantsParents of children diagnosed with ITW who had seen more than one health professional during their care and lived in Australia or the USA.ResultsTen parents of children aged between 3 and 13 years and diagnosed with ITW participated. Parents described complex themes relating to their journeys. The themes relating to their journeys were: (1) riding the rollercoaster of diagnosis; (2) navigating the treatment options and (3) supporting parents in the journey. Each theme was supported by parent quotes about their experiences. Challenges were not localised to one country, in spite of vastly different healthcare systems.ConclusionsThese findings create opportunities for an international approach to education, treatment recommendations and outcome measures to improve patient and parent experiences. Health professionals should consider the impact on parents in navigating between health professionals when provided with a diagnosis which can have variable outcomes and varied treatment options.

Clinical and molecular exploration of the impact of radiation therapy on Marfan syndrome patients

2013 ◽  
Vol 3 (3) ◽  
pp. e127-e130
Author(s):  
Dukagjin M. Blakaj ◽  
Hua-Gang Zhang ◽  
Adriana Blakaj ◽  
Waleed F. Mourad ◽  
Belinda Clarke ◽  
...  
Keyword(s):  
Radiation Therapy ◽  
Marfan Syndrome ◽  
The Impact

scholarly journals Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome

2021 ◽  
pp. jmedgenet-2021-108186
Author(s):  
Yuki Taniguchi ◽  
Norifumi Takeda ◽  
Ryo Inuzuka ◽  
Yoshitaka Matsubayashi ◽  
So Kato ◽  
...  
Keyword(s):  
Risk Factors ◽  
Marfan Syndrome ◽  
Genetic Risk ◽  
Exon Skipping ◽  
Genetic Risk Factors ◽  
Respiratory Impairment ◽  
Severe Scoliosis ◽  
Premature Termination Codons ◽  
Musculoskeletal Manifestations ◽  
The Impact

BackgroundAmong the several musculoskeletal manifestations in patients with Marfan syndrome, spinal deformity causes pain and respiratory impairment and is a great hindrance to patients’ daily activities. The present study elucidates the genetic risk factors for the development of severe scoliosis in patients with Marfan syndrome.MethodsWe retrospectively evaluated 278 patients with pathogenic or likely pathogenic FBN1 variants. The patients were divided into those with (n=57) or without (n=221) severe scoliosis. Severe scoliosis was defined as (1) patients undergoing surgery before 50 years of age or (2) patients with a Cobb angle exceeding 50° before 50 years of age. The variants were classified as protein-truncating variants (PTVs), which included variants creating premature termination codons and inframe exon-skipping, or non-PTVs, based on their location and predicted amino acid alterations, and the effect of the FBN1 genotype on the development of severe scoliosis was examined. The impact of location of FBN1 variants on the development of severe scoliosis was also investigated.ResultsUnivariate and multivariate analyses revealed that female sex, PTVs of FBN1 and variants in the neonatal region (exons 25–33) were all independent significant predictive factors for the development of severe scoliosis. Furthermore, these factors were identified as predictors of progression of existing scoliosis into severe state.ConclusionsWe elucidated the genetic risk factors for the development of severe scoliosis in patients with Marfan syndrome. Patients harbouring pathogenic FBN1 variants with these genetic risk factors should be monitored carefully for scoliosis progression.

scholarly journals Chronic heart disease in pregnancy: exploring Marfan syndrome

2019 ◽  
Vol 27 (10) ◽  
pp. 620-624
Author(s):  
Cheryl Dunn
Keyword(s):  
Heart Disease ◽  
Marfan Syndrome ◽  
Communication Theory ◽  
Mode Of Delivery ◽  
Congenital Defects ◽  
Pregnancy And Childbirth ◽  
Second Stage Of Labour ◽  
Heart Disease In Pregnancy ◽  
The Impact ◽  
In Pregnancy

Coronary heart disease is the biggest killer in the UK, causing more than a quarter of deaths in 2018 ( British Heart Foundation, 2018 ). Congenital defects are the most common cause of heart disease in pregnancy ( Wylie and Bryce, 2016 ). This article will discuss Marfan syndrome and the impact this has on pregnancy and childbirth. Current literature and research will be appraised and discussed to explore mode of delivery during the second stage of labour and calculate the most appropriate method of delivery. Additionally, this article will address how the midwife can support women with Marfan syndrome during the pregnancy booking, antenatal period and intrapartum period without labelling them, and discuss how this may be achieved in relation to the uncertainty reduction communication theory.

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