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Heart disease
Published in Catherine Nelson-Piercy, Handbook of Obstetric Medicine, 2020
Marfan syndrome is inherited as an autosomal dominant disorder. Those with cardiac lesions tend to have offspring with cardiac abnormalities. The other features of Marfan syndrome are: Increased heightArm span greater than heightArachnodactylyJoint laxityDepressed sternumHigh arched palateDislocation of the lens
Vascular Disease and Dissection in Pregnancy
Published in Afshan B. Hameed, Diana S. Wolfe, Cardio-Obstetrics, 2020
Marfan syndrome is an autosomal dominant disorder caused by various mutations in the gene (FBN-1 on chromosome 15) that encode for extracellular matrix protein fibrillin I [14,15]. Marfan syndrome has an estimated incidence of 1 in 5000 and involves skeletal, ocular, and cardiovascular systems. Most patients have cardiovascular involvement, and the presence of aortic dilatation confers high risk for morbidity and mortality. Valvular disease, including aortic regurgitation and prolapse of the mitral and tricuspid valves, can lead to arrhythmias and heart failure, and premature rupture of membranes can occur during pregnancy [16,17]. Clinical heterogeneity, even among individuals with the same genetic mutation, can add to the complexity of diagnosis. The original diagnostic criteria, known as the Ghent Nosology, was published in 1996, which was later revised to include many patients who do not have the fibrillin 1 mutation. The diagnosis can be challenging, and a multidisciplinary team should be involved, including clinical genetics. The diagnosis is sometimes only considered after a life-threatening complication occurs during pregnancy [17,18].
Muscle, Bone, and Skin Disorders
Published in Victor A. Bernstam, Pocket Guide to GENE LEVEL DIAGNOSTICS in Clinical Practice, 2019
Specific markers for the fibrillin gene — (TAAAA)n for the gene on chromosome 15 and (GT)n for the gene on chromosome 5 — have been used in PCR amplification to establish that Marfan syndrome is produced by mutations in a single fibrillin gene on chromosome 15. Consequently, the diagnosis of Marfan syndrome can now be established by direct molecular evaluation of the responsible gene.
Pre-implantation genetic testing for Marfan syndrome using mini-sequencing
Published in Journal of Obstetrics and Gynaecology, 2022
Sirivipa Piyamongkol, Krit Makonkawkeyoon, Vorasuk Shotelersuk, Opas Sreshthaputra, Tawiwan Pantasri, Rekwan Sittiwangkul, Theera Tongsong, Wirawit Piyamongkol
This study describes comprehensive treatment for a family with a history of Marfan syndrome for two generations. Clinical diagnosis of the index case for Marfan syndrome, the husband who had undergone aorta replacement surgery, was confirmed by Ghent diagnostic nosology. Definitive clinical diagnosis is essential in cases such as these and accurate identification of contributory mutations within the FBN1 gene is challenging. Marfan syndrome is an uncommon disease and there are a wide variety of mutations within the FBN1 gene. The causative mutation within the FBN1 gene in this case was tracked by WES. Singleton WES analysis revealed FBN1 c.3373C > T mutation. A novel mini-sequencing protocol specifically for FBN1 c.3373C > T exhibited a similar mutation in the proband’s father, but none in other members of the family. STR-based linkage analysis was incorporated using intragenic microsatellite markers to confirm mutation analysis and detect contamination. Triplex fluorescent PCR and mini-sequencing were effective in identifying mutations in the members of the family and four normal and six affected embryos in the two clinical PGT-M treatment cycles. A healthy baby girl was resulted in the third embryo transfer. PND confirmed PGT-M results.
Double decentred lenses in an eye: a therapeutic dilemma in Marfan syndrome
Published in Clinical and Experimental Optometry, 2020
Wei‐shan Tsai, Yuan‐chieh Lee, Fang‐ling Chang, Ming‐shan He
Marfan syndrome occurs in one in 5,000 children. It is an autosomal dominant disorder that mainly affects the connective tissue. It is caused by the mutation of the fibrillin‐1 gene (FBN1) and subsequently results in elastic fibre malformation.1991 Ectopia lentis was found to be the most common ocular complication, which significantly affects vision.2017 The abnormal fibrillin‐related loose zonules in Marfan syndrome allow the crystalline lens to become more spherical and to decentre relative to the visual axis. Typically, the most common refractive error in Marfan syndrome is high myopia resulting from microspherophakia and longer axial length. The patient in this case received bilateral anterior chamber intraocular lens implantation at another clinic to correct her high myopia. Nevertheless, an anterior chamber intraocular lens implantation in a patient with Marfan syndrome may have a higher risk of intraocular lens decentring due to the unusually deep and large anterior chamber anatomy. Diplopia occurred when the light was bisected simultaneously by the subluxated natural lens and the decentred anterior chamber intraocular lens. Thus, a phenomenon of ‘double decentred lenses in an eye’ was observed in our patient. Therefore anterior chamber intraocular lens implantation alone without removal of the subluxated natural lens may not be sufficient to treat patients with Marfan syndrome.
The Serious Factor in Expanded Prenatal Genetic Testing
Published in The American Journal of Bioethics, 2022
Erika Kleiderman, Vasiliki Rahimzadeh, Bartha Knoppers, Marie-Christine Roy, Anne-Marie Laberge, Vardit Ravitsky
Prenatal testing and reproductive decision-making related to Marfan syndrome is one exemplar case in point. Marfan syndrome is an autosomal-dominant disorder of connective tissue with a high degree of variability, affecting the cardiovascular, ocular, and skeletal systems (Dietz 2001). In some cases, aortic dissection leads to early death, and thus likely to categorize Marfan syndrome as a “serious” condition using Bayefsky and Berkman’s proposed framework. Yet, requests for prenatal diagnosis of Marfan syndrome are rare (Coron et al. 2012). Most children affected by this condition go on to lead otherwise healthy lives (De Bie et al. 2004).