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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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15 hot topic(s) found with the query "Marfan syndrome"

What Is Marfan Syndrome?
Heidi M Connolly et al. JAMA 2023 4 (Posted: Apr 15, 2023 8AM)

Marfan syndrome is a genetic disorder that affects connective tissue throughout the body. Marfan syndrome is estimated to affect 1 in 5000 individuals worldwide and occurs with equal frequency in males and females. People with Marfan syndrome often have eye lens dislocation, tall stature, long fingers and toes, flat feet, abnormal curvature of the spine, deformities of the breastbone, and stretch marks on their skin. Abnormal joint mobility, chronic pain, depression, and impaired vision occur more commonly in individuals with Marfan syndrome than in the general population.

A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations
BM Wenger et al, Genetics in Medicine, September 29, 2020 (Posted: Sep 30, 2020 9AM)

Substantial fractions of individuals harboring P/LP variants with partial or full phenotypic matches to a RASopathy or Marfan syndrome remain undiagnosed, some not meeting diagnostic criteria. Routine population genotyping would enable multidisciplinary care and avoid life-threatening events.

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome- Proposal for a Disease- and Gene-Specific Guideline
L Muino-Mosquera et al, Circulation: Genomic and Precision Medicine, June 6, 2018 (Posted: Jun 08, 2018 8AM)

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang Ren-Qiang et al. BMC Genet. 2014 74 (Posted: May 16, 2015 7AM)

The economic impact of Marfan syndrome: a non-experimental, retrospective, population-based matched cohort study.
Achelrod Dmitrij et al. Orphanet J Rare Dis 2014 90 (Posted: May 16, 2015 7AM)

Next generation sequencing as a rapid molecular diagnosis for Marfan syndrome in a Chinese family with mutations in the fibrillin-1 gene.
Xiao Yan et al. Clin. Chim. Acta 2015 Jan 15. 58-60 (Posted: May 16, 2015 7AM)

Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' Collaboration.
Pitcher Alex et al. Am. Heart J. 2015 May (5) 605-12 (Posted: May 16, 2015 7AM)

Aortic Involvement in Pediatric Marfan syndrome: A Review.
Ekhomu Omonigho et al. Pediatr Cardiol 2015 Jun (5) 887-95 (Posted: May 16, 2015 7AM)

Marfan syndrome is associated with recurrent dissection of the dissected aorta.
Ptaszek Leon M et al. Ann. Thorac. Surg. 2015 May (5) 1616-23 (Posted: May 16, 2015 7AM)

Molecular pathogenesis of Marfan syndrome.
Ramachandra Chrishan J A et al. Int. J. Cardiol. 2015 Mar 31. 585-591 (Posted: May 16, 2015 7AM)

Marfan syndrome, inherited aortopathies and exercise: What is the right answer?
Cheng Andrew et al. Heart 2015 May 15. (10) 752-757 (Posted: May 16, 2015 7AM)

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Wooderchak-Donahue Whitney et al. Am. J. Med. Genet. A 2015 May 5. (Posted: May 16, 2015 7AM)

Aortic Aneurysm Fact Sheet
Brand (Posted: Feb 25, 2015 0PM)

Marfan Syndrome
From NHLBI health topic site Brand (Posted: Jan 01, 2014 0AM)

What Is Marfan syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and covering of the spinal cord. Because the condition affects many parts of the body, it can cause many complications. Sometimes the complications are life threatening. Overview Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body's connective tissue. Most people who have Marfan syndrome inherit it from their parents. If you have Marfan syndrome, you have a 50 percent chance of passing the altered gene to each of your children. In about 1 in 4 cases, the mutation that causes Marfan syndrome is not inherited. Thus, the affected person is the first in his or her family to have the condition. Marfan syndrome often affects the long bones of the body. This can lead to signs, or traits, such as: ?A tall, thin build. ?Long arms, legs, fingers, and toes and flexible joints. ?A spine that curves to one side. This condition is called scoliosis (sko-le-O-sis). ?A chest that sinks in or sticks out. These conditions are called pectus excavatum (eks-ka-VA-tum) and pectus carinatum (ka-ri-NA-tum), respectively. ?Teeth that are too crowded. ?Flat feet. Marfan syndrome traits vary from person to person, even in the same family. Some people who have the condition have many traits, while others have few. The most serious complications of Marfan syndrome involve the heart and blood vessels. Marfan syndrome can affect the aorta, the main blood vessel that supplies oxygen-rich blood to the body. In Marfan syndrome, the aorta can stretch and grow weak. This condition is called aortic dilation (di-LA-shun) or aortic aneurysm (AN-u-rism). If the aorta stretches and grows weak, it may tear or burst and leak blood. This condition is called aortic dissection. It's very serious and can lead to severe heart problems or even death. Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies. Limiting certain activities, or changing how you do them, may help reduce the risks to the aorta, eyes, and joints. The type of treatment you receive depends on how the condition is affecting your body. Outlook About 1 out of every 5,000 people in the United States has Marfan syndrome. Men, women, children, and people of all races can have the condition. Advances have been made in the early diagnosis and treatment of Marfan syndrome. It's now possible for people who have the condition to live longer and enjoy a good quality of life. Many people who have Marfan syndrome and are properly diagnosed and treated may live an average lifespan. Researchers continue to study the condition and look for better treatments.

Marfan syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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