Early-onset Marfan syndrome with aortic dilatation and giant pulmonary artery aneurysm: A case report
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SUBMITTER: Zhang Q
PROVIDER: S-EPMC10964307 | biostudies-literature | 2023 Aug
REPOSITORIES: biostudies-literature
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Project description:PurposeTo examine possible hemodynamic alterations in adolescent to adult Marfan syndrome (MFS) patients with aortic root dilatation.Materials and methodsFour-dimensional flow MRI was performed in 20 MFS patients and 12 age-matched normal subjects with a 3T system. The cross-sectional areas of 10 planes along the aorta were segmented for calculating the axial and circumferential wall shear stress (WSSaxial , WSScirc ), oscillatory shear index (OSIaxial , OSIcirc ), and the nonroundness (NR), presenting the asymmetry of segmental WSS. Pearson's correlation analysis was performed to present the correlations between the quantified indices and the body surface area (BSA), aortic root diameter (ARD), and Z score of the ARD. P < 0.05 indicated statistical significance.ResultsPatients exhibited lower WSSaxial in the aortic root and the WSScirc in the arch (P < 0.05-0.001). MFS patients exhibited higher OSIaxial and OSIcirc in the sinotubular junction and arch, but lower OSIcirc in the descending aorta (all P < 0.05). The NR values were lower in patients (P < 0.05). The WSSaxial or WSScirc exhibited moderate to strong correlations with BSA, ARD, or Z score (R(2) = 0.50-0.72) in MFS patients.ConclusionThe significant differences in the quantified indices, which were associated with BSA, ARD, or Z score, in MFS were opposite to previous reports for younger MFS patients, indicating that altered flows in MFS patients may depend on the disease progress. The possible time dependency of hemodynamic alterations in MFS patients strongly suggests that longitudinal follow-up of 4D Flow is needed to comprehend disease progress. J. Magn. Reson. Imaging 2016;44:500-508.
| S-EPMC5132207 | biostudies-literature
Project description:BackgroundMarfan syndrome is a genetic connective tissue disorder that commonly affects the cardiovascular, skeletal, and ocular system. The increased risk of developing thoracic aortic aneurysms that can lead to aortic dissection and rupture is the main source of mortality in these patients. Pregnancy-induced changes can further increase the risk for aortic complications, especially in patients with an aortic root diameter > 45 mm.Case summaryThe case of a 26-year-old female with Marfan syndrome who was lost to follow-up for five years and presented to our department being pregnant at 21 weeks is presented. Echocardiography and cardiovascular magnetic resonance (CMR) showed an aortic root diameter of 55 mm and a large aneurysm of an aberrant right subclavian artery. Following multidisciplinary team discussion, valve-sparing aortic root and ascending aortic replacement was performed at 22 weeks of gestation without any complications. During the remaining pregnancy, the patient had frequent clinical and CMR follow-up investigations showing a mild increased size of the subclavian aneurysm. Uncomplicated caesarean delivery was performed at 35 weeks of gestation, and the subclavian artery aneurysm was successfully treated by interventional embolization.DiscussionAlthough cardiovascular surgery in our patient during pregnancy was uncomplicated, the case illustrates that pre-pregnancy counselling in Marfan patients is recommended to reduce the risk for mother and child.
| S-EPMC11337004 | biostudies-literature
Project description:RationaleAneurysm and dissection of the ascending thoracic aorta are the main cardiovascular complications of Marfan syndrome (MFS) resulting in premature death. Studies using mouse models of MFS have shown that activation of transforming growth factor-beta (TGF-β) and the concomitant upregulation of matrix metalloproteinases (MMPs) contribute to aneurysm development. Our previous study showed that doxycycline delayed aneurysm rupture in a mouse model of MFS, Fbn1(mgR/mgR). Losartan has been shown to prevent aneurysms in another mouse model of MFS, Fbn1(C1039G/+), through inhibition of the Erk1/2 pathway. However, the role of MMP-2 in MFS and effect of losartan on the lifespan of MFS mice remain unknown.ObjectiveWe investigated the role of MMP-2 in MFS and compared the effects of losartan and doxycycline on aortic dilatation and survival in Fbn1(mgR/mgR) mice.Methods and resultsBy life table analysis, we found that losartan and doxycycline improved the survival of Fbn1(mgR/mgR) mice. Gelatin zymography and Western blot data showed that only doxycycline inhibited MMP-2 expression, whereas both drugs decreased Erk1/2 phosphorylation. When combined, only one of nine mice died within the 30-week study; aortic histology and diameter were normalized and the effects on Smad2 phosphorylation was additive. To further explore the role of MMP-2 in MFS, we created MMP-2-deficient Fbn1(mgR/mgR) mice. MMP-2 deletion inhibited activation of TGF-β and phosphorylation of Erk1/2 and Smad2 and prolonged the lifespan of the mice.ConclusionsThese studies demonstrated that inhibition of MMP-2 by doxycycline delayed the manifestations of MFS, in part, through its ability to decrease active TGF-β and the noncanonical signaling cascade downstream of TGF-β. This study further suggested that targeting TGF-β signaling at different points might be a more effective strategy for inhibiting disease progression.
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Project description:Coronary artery aneurysm in adults is associated with connective tissue disorders, including Marfan syndrome. Coronary artery aneurysms are at risk for thrombosis, which obstructs coronary flow and thus results in myocardial infarction. We present a case of coronary artery aneurysm thrombosis in a patient with Marfan syndrome who presented with acute coronary syndrome.
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Project description:A 24-year-old Ugandan woman was referred for a neurology opinion after complaining of a year long history of right-sided retro-orbital stabbing pain. Brain imaging revealed a coincidental 3 mm left ophthalmic artery aneurysm. Marfanoid habitus was noted; after further investigations she was diagnosed with mild aortic root dilatation, subtle lens dislocation and Marfan syndrome. Her symptoms were secondary to temporomandibular joint dysfunction, an under-recognised complication of Marfan syndrome. Her ophthalmic artery aneurysm is likely to be a coincidental finding.
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Project description:We report dynamic temporal and spatial smooth muscle cell phenotype modulation using aortic single cell RNA sequencing in a murine model of Marfan syndrome (Fbn1C1041G/+) and littermate controls. Aortic root/ascending aortic tissue samples from both genotypes were studied at 4 and 24 weeks of age. The non-aneurysmal descending thoracic aorta was also studied at 24 weeks. Finally human aortic tissue from a Marfan syndrome patient undergoing aneurysm repair surgery was studied.
2020-06-30 | GSE153534 | GEO
Project description:We describe a rare case of simultaneous idiopathic right ventricular outflow tract dilatation and idiopathic main pulmonary artery aneurysm. A 59-year-old male presented with complaints of exertional shortness of breath and a cardiac murmur since childhood. CT pulmonary angiogram showed main pulmonary artery dilatation with a diameter of 5.8 cm. Cardiac MRI revealed right ventricular outflow tract dilatation with a diameter of 5.4 cm and a main pulmonary artery aneurysm with a 5.6 cm diameter. Cardiothoracic surgery was consulted for surgical repair. Definitive management of right ventricular outflow tract dilatation and pulmonary artery aneurysms is challenging due to their infrequent diagnosis and lack of established guidelines. The treatment for central aneurysms is surgery which includes aneurysmectomy and right ventricular outflow tract repair or replacement.
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