Marfan syndrome
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Marfan syndrome
Disease-specific pathology
Cardiovascular disorders
Aneurysms
Aortic valve disease
Atherosclerosis and arteriosclerosis: Pathology review
Atrial septal defect
Cardiac and vascular tumors: Pathology review
Cor pulmonale
Dyslipidemias: Pathology review
Heart failure
Heart failure: Pathology review
Mitral valve disease
Patent ductus arteriosus
Pulmonary embolism
Pulmonary hypertension
Vasculitis: Pathology review
Ventricular septal defect
Endocrine disorders
Adrenal masses: Pathology review
Multiple endocrine neoplasia: Pathology review
Neuroendocrine tumors of the gastrointestinal system: Pathology review
Pituitary tumors: Pathology review
Thyroid nodules and thyroid cancer: Pathology review
Eye, ear, nose, and throat disorders
Eye conditions: Inflammation, infections and trauma: Pathology review
Eye conditions: Retinal disorders: Pathology review
Nasal, oral and pharyngeal diseases: Pathology review
Thyroid nodules and thyroid cancer: Pathology review
Vertigo: Pathology review
Gastrointestinal disorders
Diverticulosis and diverticulitis
Encopresis
Esophageal disorders: Pathology review
Gastrointestinal bleeding: Pathology review
Intussusception
Malabsorption syndromes: Pathology review
Neuroendocrine tumors of the gastrointestinal system: Pathology review
Genetic disorders
Angelman syndrome
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Ehlers-Danlos syndrome
Fragile X syndrome
Klinefelter syndrome
Leukodystrophy
Marfan syndrome
Myotonic dystrophy
Neurofibromatosis
Osteogenesis imperfecta
Patau syndrome (Trisomy 13)
Prader-Willi syndrome
Sickle cell disease (NORD)
Turner syndrome
Hematological disorders
Blood transfusion reactions and transplant rejection: Pathology review
Metabolic acidosis
Metabolic alkalosis
Non-hemolytic normocytic anemia: Pathology review
Platelet disorders: Pathology review
Respiratory acidosis
Respiratory alkalosis
Thrombosis syndromes (hypercoagulability): Pathology review
Integumentary disorders
Pigmentation skin disorders: Pathology review
Papulosquamous and inflammatory skin disorders: Pathology review
Vesiculobullous and desquamating skin disorders: Pathology review
Metabolic disorders
Galactosemia
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hyperlipidemia
Hypertriglyceridemia
Lactose intolerance
Metabolic acidosis
Metabolic alkalosis
Phenylketonuria (NORD)
Tay-Sachs disease (NORD)
Musculoskeletal disorders
Back pain: Pathology review
Seronegative and septic arthritis: Pathology review
Myalgias and myositis: Pathology review
Neurodevelopmental disorders
Disruptive, impulse control, and conduct disorders
Fetal alcohol syndrome
Learning disability
Shaken baby syndrome
Tourette syndrome
Neurologic disorders
Alzheimer disease
Headaches: Pathology review
Traumatic brain injury: Pathology review
Spina bifida
Nutritional disorders
Beriberi
Excess Vitamin A
Excess Vitamin D
Folate (Vitamin B9) deficiency
Iodine deficiency
Kwashiorkor
Marasmus
Niacin (Vitamin B3) deficiency
Vitamin B12 deficiency
Vitamin C deficiency
Vitamin D deficiency
Vitamin K deficiency
Wernicke-Korsakoff syndrome
Zinc deficiency
Psychiatric disorders
Amnesia
Bipolar disorder
Body dysmorphic disorder
Body focused repetitive disorders
Cluster A personality disorders
Cluster B personality disorders
Cluster C personality disorders
Delusional disorder
Dissociative disorders
Factitious disorder
Major depressive disorder
Neuroleptic malignant syndrome
Phobias
Premenstrual dysphoric disorder
Schizoaffective disorder
Schizophreniform disorder
Seasonal affective disorder
Serotonin syndrome
Somatic symptom disorder
Renal disorders
Hyperkalemia
Hypernatremia
Hyponatremia
Metabolic acidosis
Metabolic alkalosis
Poststreptococcal glomerulonephritis
Prerenal azotemia
Respiratory disorders
Chronic bronchitis
Cor pulmonale
Emphysema
Pneumonia
Pulmonary embolism
Respiratory acidosis
Respiratory alkalosis
Sexual and reproductive disorders
Amenorrhea: Pathology Review
Benign breast conditions: Pathology review
Disorders of sex chromosomes: Pathology review
Erectile dysfunction
Female sexual interest and arousal disorder
Genito-pelvic pain and penetration disorder
Male hypoactive sexual desire disorder
Orgasmic dysfunction
Penile conditions: Pathology review
Testicular and scrotal conditions: Pathology review
Uterine disorders: Pathology review
Vaginal and vulvar disorders: Pathology review
Sleep disorders
Bruxism
Insomnia
Narcolepsy (NORD)
Night terrors
Assessments
Marfan syndrome
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USMLE® Step 1 questions
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Marfan syndrome
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USMLE® Step 1 style questions USMLE
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External References
First Aid
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2016
Aortic aneurysm p. 308
Marfan syndrome p. 50, 306
Aortic dissection p. 309
Marfan syndrome p. 714
Marfan syndrome as cause p. 306
Aortic regurgitation
Marfan syndrome p. 306
Arachnodactyly p. 50
Marfan syndrome p. 714
Marfan syndrome
aortic aneurysms p. 728
aortic dissection and p. 309
cardiac defect association p. 306
cataracts p. 554
chromosome association p. 62
elastin and p. 50
heart murmur with p. 298
presentation p. 714
thoracic aortic aneurysms and p. 308
External Links
Transcript
Content Reviewers
Rishi Desai, MD, MPHContributors
Tanner Marshall, MS
Marfan syndrome is a genetic disorder that results in defective connective tissue, which can affect a person’s skeleton, heart, blood vessels, eyes, and lungs.
Normally, the interstitial space of various body tissues is full of microfibrils - which are strong rope-like structures that provide tissue integrity and form connective tissue.
Each microfibril is made of cellulose as well as glycoproteins including the protein fibrillin. In some structures microfibrils form a scaffold for additional proteins like elastin.
Elastin fibers are highly cross-linked, and that gives them a rubber-band-like quality, which allows tissues to stretch and then spring back to their original shape.
Tissues that have elastin fibers are the arteries, skin, and lungs, and tissues that have microfibrils but no overlying layer of elastin are like tendons and the ciliary zonules that hold the eye lens in place.
These tissues are less stretchable, but still have considerable tensile strength.
In addition to being part of microfibrils, fibrillin also regulates tissue growth.
Fibrillin sequesters or removes transforming growth factor beta, or TGF-β, which stimulates tissue growth, so fibrillin therefore lowers how much TGF-β is available to stimulate growth.
Marfan syndrome is caused by mutations in a gene called FBN1, or fibrillin 1, on chromosome 15.
It’s autosomal dominant, which means that even if there’s a normal copy of the gene, a single mutated copy of the gene – in other words a heterozygous mutation – is sufficient to cause the disease.
The FBN1 gene encodes Fibrillin-1 protein, one of three fibrillin subtypes.
In Marfan syndrome, fibrillin-1 is either less abundant or it is dysfunctional. As a result, there are fewer functioning microfibrils in the extracellular matrix, and that means there’s less tissue integrity and elasticity.
Connective tissue is found throughout the body, so this can affect nearly every body system.
Additionally, TGF-β doesn’t get effectively sequestered, so TGF-β signaling is excessive in these tissues - meaning more growth.
The most obvious physical features of Marfan syndrome involve the skeleton.
The long bones grow excessively, so individuals are tall with long arms and legs – this is called a Marfanoid body habitus.
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