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Progressive double major scoliotic curve with concurrent lumbosacral spondylolisthesis in a skeletally immature patient with Marfan syndrome treated with anterior scoliosis correction
Study designCase report (review of patient records, imaging, and pulmonary function tests) and literature review.
ObjectivesTo describe the case of...
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Ascending aortic aneurysm and histopathology in Alport syndrome: a case report
BackgroundAlport syndrome (AS) is caused by mutations in type IV collagen genes that typically target and compromise the integrity of basement...
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Iatrogenic aortic dissection during aortic root replacement in an older Loeys–Dietz syndrome type III patient with no family history of aortic disease: a case report
BackgroundIatrogenic aortic dissection during cardiac surgery is a rare but critical complication. At present, no strategies have been developed to...
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Correlation between benign joint hypermobility syndrome and headache in children and adolescents
BackgroundBenign Joint Hypermobility Syndrome (BJHS) is a most common hereditary connective tissue disorders in children and adolescents. This study...
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Characteristics of brittle cornea syndrome by multimodal imaging modalities: a case report
BackgroundA report of a Brittle cornea syndrome (BCS) case with bluish scleral discoloration, keratoglobus, and myopia based on multimodal imaging...
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Dysregulation of extracellular matrix and Lysyl Oxidase in Ehlers-Danlos syndrome type IV skin fibroblasts
BackgroundEhlers-Danlos syndrome Type IV (aka Vascular Ehlers Danlos, or vEDS) is a dominantly inherited mutation in the Collagen 3A1 gene ( COL3A1 )....
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Dysautonomia, Hypermobility Spectrum Disorders and Mast Cell Activation Syndrome as Migraine Comorbidities
Purpose of ReviewDysautonomia refers to the dysfunction of the autonomic nervous system and encompasses a wide variety of autonomic symptoms and...
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Psychological interventions for individuals with Ehlers-Danlos syndrome and hypermobility spectrum disorder: a sco** review
PurposeTo identify the nature and extent of the evidence on psychological interventions among individuals with Ehlers-Danlos Syndrome (EDS) and...
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Prominent corneal nerves in pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B
BackgroundPure mucosal neuroma syndrome (MNS), an autosomal dominant neurocutaneous disorder, is a rare discrete subgroup in multiple endocrine...
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Aortic dissection following “ecstasy” use complicated by compartment syndrome
BackgroundPatients who present to the emergency department (ED) with acute chest pain should receive a thorough history and exam to rule out rare,...
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Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia—Occam’s razor or Hickam’s dictum: a case report
BackgroundTurner syndrome (TS) is a rare condition associated with a completely or partially missing X chromosome that affects 1 in 2500 girls. TS...
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Losartan for Preventing Aortic Root Dilatation in Patients with Marfan Syndrome: A Meta-Analysis of Randomized Trials
IntroductionThe role of losartan in preventing aortic root dilatation in Marfan syndrome has been evaluated in many clinical trials; however, the...
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Median 10 years follow-up of patients with covert Cushing’s syndrome: a case series
BackgroundEctopic adrenocorticotropic hormone secretion syndrome occurs in 10% of all patients with adrenocorticotropic-hormone-dependent...
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Aggressive Aortopathy in neonatal Marfan syndrome
BackgroundNeonatal Marfan syndrome is a rare, severe form of Marfan syndrome with a poor prognosis. Surgical intervention to address massive aortic...
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Reliability of non-contrast magnetic resonance angiography-derived aortic diameters in Marfan patients: comparison of inner vs. outer vessel wall measurements
Aortic diameter measurements play a crucial role for the indication of aortic root surgery in Marfan patients. However, for magnetic resonance...
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David V procedure and hemiarch replacement in a patient with Loeys-Dietz-Syndrome and beta thalassemia minor: a case report
We report the case of a 36-year-old European female patient presenting with a sinus valsalva aneurysm of 47 mm with moderate aortic regurgitation....
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Short- and Long-term survival prediction in patients with acute type A aortic dissection undergoing open surgery
BackgroundAcute Type A aortic dissection (ATAAD) is a life-threatening cardiovascular disease associated with high mortality rates, where surgical...
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Decreased rotational flow and circumferential wall shear stress as early markers of descending aorta dilation in Marfan syndrome: a 4D flow CMR study
BackgroundDiseases of the descending aorta have emerged as a clinical issue in Marfan syndrome following improvements in proximal aorta surgical...
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Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature
BackgroundLoeys-Dietz syndrome (LDS) is a rare connective tissue disorder characterized by cardiovascular manifestations, especially aortic...
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Pregnancy-associated aortopathy and sudden postpartum death
A 39-year-old woman who had undergone an uncomplicated elective cesarean section for a low-lying placenta collapsed and died the following day. At...
