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Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Mitral Valve Prolapse I: Introduction01:27

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IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...
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Cystic Fibrosis: Pathogenesis01:23

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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Aneurysm I: Introduction01:30

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An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
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Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

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Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Related Experiment Video

Updated: Oct 21, 2025

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Marfan syndrome.

Dianna M Milewicz1, Alan C Braverman2, Julie De Backer3

  • 1Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA. Dianna.M.Milewicz@uth.tmc.edu.

Nature Reviews. Disease Primers
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Marfan syndrome (MFS) is a genetic connective tissue disorder caused by FBN1 gene variants. Early diagnosis and management, including medical therapy and regular imaging, are crucial for preventing life-threatening aortic dissections.

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Area of Science:

  • Genetics
  • Cardiology
  • Ophthalmology

Background:

  • Marfan syndrome (MFS) is an autosomal dominant disorder affecting connective tissues.
  • It is caused by pathogenic variants in the FBN1 gene, encoding fibrillin-1.
  • MFS exhibits significant variability in presentation and severity.

Purpose of the Study:

  • To summarize the key features, diagnosis, and management of Marfan syndrome.
  • To highlight the importance of genetic testing and surveillance for MFS patients.

Main Methods:

  • Diagnosis relies on the Ghent II nosology.
  • Genetic testing for FBN1 variants aids in distinguishing MFS from similar conditions.
  • Routine imaging (echocardiography, CT, MRI) monitors aortic root aneurysm progression.

Main Results:

  • Prominent manifestations include aortic root aneurysms, aortic dissections, ectopia lentis, and skeletal overgrowth.
  • Aortic root aneurysms can progress to life-threatening dissections if untreated.
  • Medical therapy and surgical intervention are vital for managing MFS complications.

Conclusions:

  • Effective management of Marfan syndrome involves a combination of medical therapy, regular surveillance, and timely surgical intervention.
  • Accurate diagnosis, supported by genetic testing, is essential for appropriate patient care and distinguishing MFS from other thoracic aortic diseases.