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Acta Ophthalmologica May 2022The aim of the present study was to investigate photophobia and disability glare in adult patients with Marfan syndrome (MFS).
PURPOSE
The aim of the present study was to investigate photophobia and disability glare in adult patients with Marfan syndrome (MFS).
METHODS
In this case-control study, 44 patients with MFS (87 eyes) were compared to 44 controls (88 eyes), who were matched for age and sex. The subjects were asked to grade their photophobia and glare using 10-cm visual analogue scales (VAS), which were marked with 'never' at zero and 'always' at 10 -cm. In addition, disability glare was measured with C-Quant straylight meter.
RESULTS
The patients with MFS had significantly higher VAS scores than the controls in four out of seven statements related to photophobia and glare. When including cataract, spherical equivalent, iris colour, axial length and corneal curvature, three of the seven statements were still significantly different between the two groups. The mean straylight values were 1.29 ± 0.03 log(s) in the MFS group and 1.01 ± 0.03 log(s) in the control group (p < 0.001, mixed model). These differences remained significant after adjusting for cataract, spherical equivalent, iris colour, axial length and corneal curvature.
CONCLUSION
Patients with MFS reported more photophobia and had a higher straylight value than the control group. Awareness of these findings of more photophobia and glare in the MFS patients is important when counselling and treating these patients.
Topics: Adult; Case-Control Studies; Cataract; Glare; Humans; Light; Marfan Syndrome; Photophobia; Scattering, Radiation; Visual Acuity
PubMed: 34173343
DOI: 10.1111/aos.14935 -
American Journal of Medical Genetics.... Jan 2021Marfan syndrome (MFS) is a multisystemic, autosomal dominant connective tissue disorder that occurs de novo in 25%. In many families, parent and child(ren) are affected,...
Marfan syndrome (MFS) is a multisystemic, autosomal dominant connective tissue disorder that occurs de novo in 25%. In many families, parent and child(ren) are affected, which may increase distress in parents. To assess distress, 42 mothers (29% MFS) and 25 fathers (60% MFS) of 43 affected children, completed the validated screening-questionnaire Distress thermometer for parents of a chronically ill child, including questions on overall distress (score 0-10; ≥4 denoting "clinical distress") and everyday problems (score 0-36). Data were compared to 1,134 control-group-parents of healthy children. Mothers reported significantly less overall distress (2, 1-4 vs. 3, 1-6; p = .049; r = -.07) and total everyday problems (3, 0-6 vs. 4, 1-8; p = .03; r = -.08) compared to control-group-mothers. Mothers without MFS reported significantly less overall distress compared to mothers with MFS, both of a child with MFS (1, 0-4 vs. 3.5, 2-5; p = .039; r = -.17). No significant differences were found between the father-groups, nor between the group of healthy parents of an affected child living together with an affected partner compared to control-group-parents. No differences in percentages of clinical distress were reported between mothers and control-group-mothers (33 vs. 42%); fathers and control-group-fathers (28 vs. 32%); nor between the other groups. Distress was not associated with the children's MFS characteristics. Concluding, parents of a child with MFS did not show more clinical distress compared to parents of healthy children. However, clinical distress was reported in approximately one-third and may increase in case of acute medical complications. We advise monitoring distress in parents of a child with MFS to provide targeted support.
Topics: Adult; Anxiety; Child; Child, Preschool; Chronic Disease; Depression; Fathers; Female; Humans; Male; Marfan Syndrome; Mothers; Parenting; Parents; Quality of Life; Stress, Psychological; Surveys and Questionnaires
PubMed: 33034422
DOI: 10.1002/ajmg.a.61906 -
Vascular Pharmacology Dec 2023Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in fibrillin 1 (FBN1) gene. These mutations result in defects in the... (Review)
Review
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in fibrillin 1 (FBN1) gene. These mutations result in defects in the skeletal, ocular, and cardiovascular systems. Aortic aneurysm is the leading cause of premature mortality in untreated MFS patients. Elastic fiber fragmentation in the aortic vessel wall is a hallmark of MFS-associated aortic aneurysms. FBN1 mutations result in FBN1 fragments that also contribute to elastic fiber fragmentation. Although recent research has advanced our understanding of MFS, the contribution of elastic fiber fragmentation to the pathogenesis of aneurysm formation remains poorly understood. This review provides a comprehensive overview of the molecular mechanisms of elastic fiber fragmentation and its role in the pathogenesis of aortic aneurysm progression. Increased comprehension of elastic fragmentation has significant clinical implications for developing targeted interventions to block aneurysm progression, which would benefit not only individuals with Marfan syndrome but also other patients with aneurysms. Moreover, this review highlights an overlooked connection between inhibiting aneurysm and the restoration of elastic fibers in the vessel wall with various aneurysm inhibitors, including drugs and chemicals. Investigating the underlying molecular mechanisms could uncover innovative therapeutic strategies to inhibit elastin fragmentation and prevent the progression of aneurysms.
Topics: Humans; Marfan Syndrome; Elastic Tissue; Aortic Aneurysm; Aorta; Fibrillin-1
PubMed: 37640090
DOI: 10.1016/j.vph.2023.107215 -
The Journal of Thoracic and... Jul 2023Acute aortic Stanford type A dissection remains a frequent and life-limiting event for patients with Marfan syndrome. Outcome results in this high-risk group are limited.
BACKGROUND
Acute aortic Stanford type A dissection remains a frequent and life-limiting event for patients with Marfan syndrome. Outcome results in this high-risk group are limited.
METHODS
The German Registry for Acute Aortic Dissection Type A collected the data of 56 centers between July 2006 and June 2015. Of 3385 patients undergoing operations for acute aortic Stanford type A dissection, 117 (3.5%) were diagnosed with Marfan syndrome. We performed a propensity score match comparing patients with Marfan syndrome with patients without Marfan syndrome in a 1:2 fashion.
RESULTS
Patients with Marfan syndrome were significantly younger (42.9 vs 62.2 years; P < .001), predominantly male (76.9% vs 62.9%; P = .002), and less catecholamine dependent (9.4% vs 20.3%; P = .002) compared with the unmatched cohort. They presented with aortic regurgitation (41.6% vs 23.0%; P < .001) and involvement of the supra-aortic vessels (50.4% vs 39.5%; P = .017) more often. Propensity matching revealed 82 patients with Marfan syndrome (21 female) with no significant differences in baseline characteristics compared with patients without Marfan syndrome (n = 159, 36 female; P = .607). Although root preservation was more frequent in patients with Marfan syndrome, procedure types did not differ significantly (18.3% vs 10.7%; P = .256). Aortic arch surgery was performed more frequently in matched patients (87.5% vs 97.8%; P = .014). Thirty-day mortality did not differ between patients with and without Marfan syndrome (19.5% vs 20.1%; P = .910). Multivariate regression showed no influence of Marfan syndrome on 30-day mortality (odds ratio, 0.928; 95% confidence interval, 0.346-2.332; P = .876).
CONCLUSIONS
Marfan syndrome does not adversely affect 30-day outcomes after surgical repair for acute aortic Stanford type A dissection compared with a matched cohort. Long-term outcome analysis is needed to account for the influence of further downstream interventions.
Topics: Humans; Male; Female; Marfan Syndrome; Treatment Outcome; Retrospective Studies; Aorta; Aortic Dissection
PubMed: 34446289
DOI: 10.1016/j.jtcvs.2021.07.024 -
Nederlands Tijdschrift Voor... Jan 2022Marfan syndrome is characterized by several (severe) medical disorders, the most important of which is aortic dilatation. Treatment of these disorders has consequences...
Marfan syndrome is characterized by several (severe) medical disorders, the most important of which is aortic dilatation. Treatment of these disorders has consequences for oral care, in particular with regard to endocarditis prophylaxis and the use of anticoagulation. Furthermore, several orofacial anomalies of Marfan syndrome relevant to dental care are described in the literature. These anomalies may affect different areas within the spectrum of dental care, ranging from orthodontics to periodontology. Within these areas, Marfan syndrome is associated with a characteristic countenance and the prevalence of temporomandibular dysfunction, caries, endodontic anomalies and periodontitis. Medical-dental interaction with patients with Marfan syndrome should also be taken into consideration.
Topics: Dental Caries; Humans; Marfan Syndrome
PubMed: 35015388
DOI: 10.5177/ntvt.2022.01.21098 -
British Journal of Pharmacology Apr 2022Recent studies have shown that NO is a central mediator in diseases associated with thoracic aortic aneurysm, such as Marfan syndrome. The progressive dilation of the... (Review)
Review
Recent studies have shown that NO is a central mediator in diseases associated with thoracic aortic aneurysm, such as Marfan syndrome. The progressive dilation of the aorta in thoracic aortic aneurysm ultimately leads to aortic dissection. Unfortunately, current medical treatments have neither halt aortic enlargement nor prevented rupture, leaving surgical repair as the only effective treatment. There is therefore a pressing need for effective therapies to delay or even avoid the need for surgical repair in thoracic aortic aneurysm patients. Here, we summarize the mechanisms through which NO signalling dysregulation causes thoracic aortic aneurysm, particularly in Marfan syndrome. We discuss recent advances based on the identification of new Marfan syndrome mediators related to pathway overactivation that represent potential disease biomarkers. Likewise, we propose iNOS, sGC and PRKG1, whose pharmacological inhibition reverses aortopathy in Marfan syndrome mice, as targets for therapeutic intervention in thoracic aortic aneurysm and are candidates for clinical trials.
Topics: Aortic Dissection; Animals; Aorta; Aortic Aneurysm; Aortic Aneurysm, Thoracic; Cyclic GMP-Dependent Protein Kinase Type I; Humans; Marfan Syndrome; Mice
PubMed: 34599830
DOI: 10.1111/bph.15694 -
Pediatric Emergency Medicine Practice Apr 2021Children with syndromes often access emergency services and they may present unique challenges for emergency clinicians. This issue reviews 3 pediatric syndromes-spina... (Review)
Review
Children with syndromes often access emergency services and they may present unique challenges for emergency clinicians. This issue reviews 3 pediatric syndromes-spina bifida, Down syndrome, and Marfan syndrome-each of which are associated with unique emergent conditions. Patients with spina bifida have chronic colonization of bacteria in the urine, and antibiotics are not always needed. Children with Down syndrome are at risk for neurologic injury with minor trauma; advanced imaging such as magnetic resonance imaging may be needed in select cases. For children in whom a connective tissue disorder is suspected, aortic dissection and spontaneous pneumothorax must be considered. This issue reviews the pitfalls in interpreting routine testing and discusses the diagnostic and therapeutic approaches helpful in evaluating children with syndromes.
Topics: Child; Down Syndrome; Emergency Service, Hospital; Humans; Marfan Syndrome; Spinal Dysraphism; Syndrome
PubMed: 33779129
DOI: No ID Found -
Genetics in Medicine : Official Journal... Aug 2019Life expectancy for a person with Marfan syndrome has essentially doubled over the past four decades. During this period, the clinical histories of the organs managed... (Review)
Review
Life expectancy for a person with Marfan syndrome has essentially doubled over the past four decades. During this period, the clinical histories of the organs managed routinely have improved, and will continue to be. Prominent examples are the eyes, the heart and aorta, and some features of the skeletal system. Meanwhile, the natural histories of organ systems that have not been subjected to treatment need to be described. This is particularly important as due to the improved life span many symptoms and organ systems are only recently being recognized as being intrinsic to Marfan syndrome. Examples are the distal aorta and peripheral arteries, ventricular function, the central nervous system, sleep apnea, and adiposity. As a result, each person with Marfan syndrome will need to be evaluated and followed by more specialists than previously. Moreover, the coordinator of diagnostic testing and clinical referral must be aware of the expanded phenotype as people with Marfan syndrome age and the importance of life-long management of classical and novel features. The benefits of increased longevity and its consequences need to be addressed by investigators, health-care providers, and patients alike.
Topics: Aorta; Central Nervous System; Eye; Heart; Humans; Life Expectancy; Longevity; Marfan Syndrome; Skeleton
PubMed: 30573797
DOI: 10.1038/s41436-018-0399-4 -
Cardiology in the Young Dec 2021To determine whether racial/ethnic differences exist for the treatment of Marfan syndrome aortopathy. The 2014 Pediatric Heart Network randomised trial of losartan...
OBJECTIVE
To determine whether racial/ethnic differences exist for the treatment of Marfan syndrome aortopathy. The 2014 Pediatric Heart Network randomised trial of losartan versus atenolol in Marfan syndrome paediatric and young adult patients showed no treatment differences in the rate of aortic root growth over 3 years; however, they did not examine racial/ethnic differences, and recent data suggest that angiotensin receptor blockers may have different pharmacologic effects in different racial/ethnic populations.
METHODS
We performed a secondary analysis of public-use data from the Pediatric Heart Network randomised trial comparing the differences by race/ethnicity (non-Hispanic White, non-Hispanic Black, and Hispanic patients) amongst the treatment groups for the primary outcome of rate of aortic root enlargement by z score and secondary outcome of rate of change of absolute diameter of aortic root, z score and absolute diameter of ascending aorta, and blood pressure changes.
RESULTS
For aortic root enlargement by z score amongst non-Hispanic White patients, patients on losartan exhibited an annual z score change of -0.090 ± 0.016, compared to -0.146 ± 0.015 for those on atenolol (p = 0.01), favouring atenolol. For Hispanic and non-Hispanic Black patients, there was no difference in primary or secondary outcomes between treatment groups.
CONCLUSION
Non-Hispanic White patients had a small, but statistically significantly greater decrease in aortic root z score favouring atenolol over losartan. There were no significant differences amongst Hispanic or non-Hispanic Black patients, which may be due to relatively small size numbers. These findings may have important implications for medication selection by race/ethnicity in Marfan syndrome patients, which has not previously been evaluated in studies.
Topics: Angiotensin II Type 1 Receptor Blockers; Aorta; Atenolol; Child; Humans; Losartan; Marfan Syndrome; Young Adult
PubMed: 33845931
DOI: 10.1017/S104795112100130X -
Translational Vision Science &... Aug 2020To assess the retinal and choroidal vasculature in patients with genetically confirmed Marfan syndrome (MfS). (Observational Study)
Observational Study
PURPOSE
To assess the retinal and choroidal vasculature in patients with genetically confirmed Marfan syndrome (MfS).
METHODS
This prospective, case-control, observational study included 48 eyes of 24 patients with a genetic diagnosis of MfS and compared them with 52 eyes of 26 healthy controls. Best-corrected visual acuity, choroidal and retinal thickness measured by spectral domain-optical coherence tomography, retinal and choroidal vasculature characterized by optical coherence tomography angiography, were collected. A genetic counseling was carried out. A transthoracic echocardiogram was performed to evaluate the dimension of the aortic root, the ascending aorta and the left ventricle function and dimensions.
RESULTS
A significant decrease in the superficial and deep retinal capillary plexi vessel density (VD) was evident, such as a decrease in the choriocapillaris plexus VD. In patients with MfS, a negative correlation between left ventricular diameter and the VD of the superficial and deep plexi was observed. Patients with MfS with greater posterior wall and interventricular septum dimensions had lower VD in both plexi ( < 0.05). Moreover, there was a negative correlation between the dimension of the ascending aorta and foveal choriocapillary VD. In patients with MfS, increasing diameter of the ascending aorta was associated with a lower foveal choriocapillary VD ( < 0.05).
CONCLUSIONS
The severity of MfS correlates with the impairment of the retinal and choroidal vasculature.
TRANSLATIONAL RELEVANCE
Optical coherence tomography angiography may be a reproducible and noninvasive tool to study retinal blood flow in patients with MfS, with potential diagnostic and prognostic value.
Topics: Choroid; Fluorescein Angiography; Humans; Marfan Syndrome; Prospective Studies; Retinal Vessels
PubMed: 32879762
DOI: 10.1167/tvst.9.9.5