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TV Title:Grey's Anatomy Season 2TV Introduction: As the newcomers enter their second year of internship, the initial novelty and excitement is replaced by bu...
Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies
Marfan syndrome (MFS) is a rare inherited autosomic disorder, which encompasses a variety of systemic manifestations caused by mutations in the Fibrillin-1 encoding gene (FBN1). Cardinal clinical phenotypes of MFS are highly variable in terms of severity, ...
It’s difficult to detect — the first diagnosis is often made in a morgue. Its roots are defective genes. Its victims are usually tall and lanky with long and supple fingers. They’…
Marfan patients team up with researchers to catch their silent killer - BioVox
The world’s undiagnosed Marfan patients often go through life unaware of the hidden killer lurking in their DNA – a gene variant which may lead to sudden death at any moment via an aortic dissection. Currently, there is no therapy available to counteract this disastrous aortic event, so patient awareness of their condition is key to prevention. To learn more about Marfan syndrome and improve diagnosis, our project needs patients to enroll online in our research cohort. In this way, patients can themselves help us contribute to new therapies and averting sudden deaths.
Musculoskeletal Challenges in Marfan Syndrome and the Role of Physical Therapy
Dr. Ryan Goodwin, Director, Cleveland Clinic Center for Pediatric Orthopaedics and Scoliosis Surgery is joined by physical therapists Raquel Griffis, PT, DPT and Lisa Seely, PT to discuss the changes that occur to the musculoskeletal system with Marfan Syndrome, treatment options, when to seek a physical therapist (PT), how to work with a PT, and a case presentation of a child with Marfan. Filmed at the Regional Symposium on Marfan Syndrome and Related Disorders presented by Cleveland Clinic and The Marfan Foundation
Medical Record and Imaging Evaluation To Identify Arterial Tortuosity Phenotype in Populations At Risk For Intracranial Aneurysms
High arterial tortuosity may signify early arterial pathology which may precede development of intracranial aneurysms. We measured arterial tortuosity of intracranial vessels and reviewed the medical records of three groups of patients: with intracranial ...
Intracranial Arterial Tortuosity in Marfan Syndrome and Loeys-Dietz Syndrome: Tortuosity Index Evaluation Is Useful in the Differential Diagnosis
The tortuosity index of intracranial arteries is an easily calculated and highly reproducible measure, which shows a high specificity for Marfan syndrome and Loeys-Dietz syndrome and may be useful in differentiating these 2 entities.
Carotid Artery Tortuosity Is Associated with Connective Tissue Diseases
There is a general assumption in the cerebrovascular literature that there is an association between carotid artery tortuosity and connective tissues disease; however, this has not been firmly established. The purpose of this study was to determine the ...
POTS Mysterious Syndrome Causes Racing Heart and Other Symptoms
Postural orthostatic tachycardia syndrome, or POTS, is a little known and often undiagnosed disorder that can cause racing heart, dizziness and other symptoms.
Marfan syndrome is a condition that affects the connective tissues of the entire body, including joints, eyes, heart, blood vessels, lungs, bones & spinal cord.
How to Distinguish Marfan Syndrome from Marfanoid Habitus in a Physical Examination—Comparison of External Features in Patients with Marfan Syndrome and Marfanoid Habitus
Marfan Syndrome (MFS) is a systemic disorder caused by mutations in fibrillin-1. The most common cause of mortality in MFS is dissection and rupture of the aorta. Due to a highly variable and age-dependent clinical spectrum, the diagnosis of MFS still ...
Marfan syndrome (MFS), a multisystemic connective disorder, caused by fibrillin 1 gene mutations with autosomal dominant inheritance. The disease spectrum is wide and the major causes of death are related to aortic root aneurysm or dissection. The purposes ...
Marfan syndrome is an autosomal dominant, multisystem disease characterized by long bone overgrowth and other skeletal abnormalities, dislocation of the ocular lens, pneumothorax, decreased skeletal muscle mass, mitral valve prolapse, and dilatation of the aortic root. Antoine Bernard-Jean Marfan first described the syndrome in 1896 in a young patient with peculiarly long and thin digits (subsequently termed arachnodactyly), elongated limbs (which he termed dolichostenomelia), and congenital contractures of multiple joints. Because of the latter feature, this patient may really have had congenital contractural arachnodactyly, a connective tissue disorder not described until 1968. For the half century subsequent to Marfan’s report, features in other systems were described in patients with thin, elongated limbs: mitral valve disease in 1912; dislocation of the ocular lens in 1914; ruptured aortic aneurysm in 1918; aortic root dilatation and dissection in 1943; and autosomal dominant inheritance in 1949. Manifestations occur in many other tissues and organs and are increasingly being recognized as patients survive to older ages.1