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Marfan syndrome(MFS)

MedGen UID:
44287
Concept ID:
C0024796
Disease or Syndrome
Synonyms: FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections; Marfan syndrome type 1; Marfan syndrome, classic; MARFAN SYNDROME, TYPE I; Marfan's syndrome; Marfanoid hypermobility syndrome; MFS
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Marfan syndrome (19346006); Marfan's syndrome (19346006); Marfan's disease (19346006)
 
Gene (location): FBN1 (15q21.1)
OMIM®: 154700
Orphanet: ORPHA558

Definition

Marfan syndrome, a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. Ocular findings include myopia (the most common ocular feature); ectopia lentis (seen in approximately 60% of affected individuals); and an increased risk for retinal detachment, glaucoma, and early cataracts. Skeletal system manifestations include bone overgrowth and joint laxity; disproportionately long extremities for the size of the trunk (dolichostenomelia); overgrowth of the ribs that can push the sternum in (pectus excavatum) or out (pectus carinatum); and scoliosis that ranges from mild to severe and progressive. The major morbidity and early mortality in the Marfan syndrome relate to the cardiovascular system and include dilatation of the aorta at the level of the sinuses of Valsalva (predisposing to aortic tear and rupture), mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. Severe and prolonged regurgitation of the mitral and/or aortic valve can predispose to left ventricular dysfunction and occasionally heart failure. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population. [from GTR]

Additional descriptions

From GeneReviews
Marfan syndrome, a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. Ocular findings include myopia (the most common ocular feature); ectopia lentis (seen in approximately 60% of affected individuals); and an increased risk for retinal detachment, glaucoma, and early cataracts. Skeletal system manifestations include bone overgrowth and joint laxity; disproportionately long extremities for the size of the trunk (dolichostenomelia); overgrowth of the ribs that can push the sternum in (pectus excavatum) or out (pectus carinatum); and scoliosis that ranges from mild to severe and progressive. The major morbidity and early mortality in the Marfan syndrome relate to the cardiovascular system and include dilatation of the aorta at the level of the sinuses of Valsalva (predisposing to aortic tear and rupture), mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. Severe and prolonged regurgitation of the mitral and/or aortic valve can predispose to left ventricular dysfunction and occasionally heart failure. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population.  https://www.ncbi.nlm.nih.gov/books/NBK1335
From OMIM
A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (121050), which is caused by mutation in the FBN2 gene (612570). Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.  http://www.omim.org/entry/154700
From GHR
Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). The aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening.Many people with Marfan syndrome have additional heart problems including a leak in the valve that connects two of the four chambers of the heart (mitral valve prolapse) or the valve that regulates blood flow from the heart into the aorta (aortic valve regurgitation). Leaks in these valves can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations).Individuals with Marfan syndrome are usually tall and slender, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds their body height. Other common features include a long and narrow face, crowded teeth, an abnormal curvature of the spine (scoliosis or kyphosis), and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some individuals develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung (spontaneous pneumothorax). A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia) in people with Marfan syndrome. Dural ectasia can cause pain in the back, abdomen, legs, or head. Most individuals with Marfan syndrome have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid-adulthood, and increased pressure within the eye (glaucoma) occurs more frequently in people with Marfan syndrome than in those without the condition.The features of Marfan syndrome can become apparent anytime between infancy and adulthood. Depending on the onset and severity of signs and symptoms, Marfan can be fatal early in life; however, the majority of affected individuals survive into mid- to late adulthood.  https://ghr.nlm.nih.gov/condition/marfan-syndrome

Clinical features

Ectopia lentis
MedGen UID:
41704
Concept ID:
C0013581
Congenital Abnormality
Congenital displacement of the lens resulting from defective zonule formation.
Deeply set eye
MedGen UID:
8638
Concept ID:
C0014306
Disease or Syndrome
Abnormal recession of the eyeball within the eye socket.
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a "cross-eye" appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.
Exotropia
MedGen UID:
4613
Concept ID:
C0015310
Disease or Syndrome
A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.In most people with glaucoma, the damage to the optic nerves is caused by increased pressure within the eyes (intraocular pressure). Intraocular pressure depends on a balance between fluid entering and leaving the eyes.Usually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions including high blood pressure (hypertension) and diabetes mellitus, as well as family history. The risk of early-onset glaucoma depends mainly on heredity.Structural abnormalities that impede fluid drainage in the eye may be present at birth and usually become apparent during the first year of life. Such abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 5 without other associated abnormalities, it is called primary congenital glaucoma.Other individuals experience early onset of primary open-angle glaucoma, the most common adult form of glaucoma. If primary open-angle glaucoma develops during childhood or early adulthood, it is called juvenile open-angle glaucoma.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness.
Retinal detachment
MedGen UID:
19759
Concept ID:
C0035305
Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Hypoplasia of the iris
MedGen UID:
91029
Concept ID:
C0344539
Congenital Abnormality
Congenital underdevelopment of the iris.
Increased axial globe length
MedGen UID:
320525
Concept ID:
C1835117
Finding
Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot anomaly in which one or more of the arches of the foot have flattened out.
Protrusio acetabuli
MedGen UID:
98369
Concept ID:
C0409495
Anatomical Abnormality
Intrapelvic bulging of the medial acetabular wall.
Genu recurvatum
MedGen UID:
107486
Concept ID:
C0546964
Anatomical Abnormality
An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Hammertoe
MedGen UID:
209712
Concept ID:
C1136179
Anatomical Abnormality
Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.
Medial rotation of the medial malleolus
MedGen UID:
812056
Concept ID:
C3805726
Finding
Aortic regurgitation
MedGen UID:
8153
Concept ID:
C0003504
Disease or Syndrome
An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
Heart failure
MedGen UID:
6749
Concept ID:
C0018801
Disease or Syndrome
A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Finding
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Mitral valve prolapse
MedGen UID:
7671
Concept ID:
C0026267
Disease or Syndrome
A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia.
Tricuspid valve prolapse
MedGen UID:
11912
Concept ID:
C0040962
Disease or Syndrome
Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICLE and the tricuspid annulus.
Aortic root dilatation
MedGen UID:
116069
Concept ID:
C0238669
Disease or Syndrome
Aortic dissection
MedGen UID:
83315
Concept ID:
C0340643
Disease or Syndrome
A progressive tear in the tissue lining the aorta, characterized by the passage of blood from the tunica intima into, and partially through, the tunica media.
Pulmonary artery dilatation
MedGen UID:
140900
Concept ID:
C0428851
Disease or Syndrome
An abnormal widening of the diameter of the pulmonary artery.
Ascending aortic aneurysm
MedGen UID:
163631
Concept ID:
C0856747
Disease or Syndrome
A bulging, weakened area in the wall of the ascending thoracic aorta.
Premature calcification of mitral annulus
MedGen UID:
331909
Concept ID:
C1835130
Finding
Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus . MAC is a common degenerative process involving the fibrous annulus of the mitral valve, and is generally an incidental finding associated with aging. This term applies if MAC occurs at a substantially younger age than usual.
Tall stature
MedGen UID:
69137
Concept ID:
C0241240
Finding
A height above that which is expected according to age and gender norms.
Fetal overgrowth
MedGen UID:
461631
Concept ID:
C3150281
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
Incisional hernia
MedGen UID:
488830
Concept ID:
C0267716
Finding
An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.
Dural ectasia
MedGen UID:
377094
Concept ID:
C1851712
Finding
A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.
Pneumothorax
MedGen UID:
19365
Concept ID:
C0032326
Disease or Syndrome
Abnormal presence of air in the pleural cavity.
Emphysema
MedGen UID:
18764
Concept ID:
C0034067
Disease or Syndrome
A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.
Pulmonary artery dilatation
MedGen UID:
140900
Concept ID:
C0428851
Disease or Syndrome
An abnormal widening of the diameter of the pulmonary artery.
Flexion contracture
MedGen UID:
3227
Concept ID:
C0009917
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Decreased muscle mass
MedGen UID:
373256
Concept ID:
C1837108
Finding
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.
Flexion contracture
MedGen UID:
3227
Concept ID:
C0009917
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
A congenital abnormality of the jaws (particularly the mandible) in which they are unusually small. This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes.
Spondylolisthesis
MedGen UID:
52470
Concept ID:
C0038016
Disease or Syndrome
Spondylolisthesis is defined as forward slipping of a vertebral body on the one below it. Spondylolysis is defined as a defect in the pars interarticularis without vertebral slipping (summary by Wiltse et al., 1975).
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Dolichocephaly
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Protrusio acetabuli
MedGen UID:
98369
Concept ID:
C0409495
Anatomical Abnormality
Intrapelvic bulging of the medial acetabular wall.
Genu recurvatum
MedGen UID:
107486
Concept ID:
C0546964
Anatomical Abnormality
An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Hammertoe
MedGen UID:
209712
Concept ID:
C1136179
Anatomical Abnormality
Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.
Premature osteoarthritis
MedGen UID:
371977
Concept ID:
C1835121
Disease or Syndrome
Premature calcification of mitral annulus
MedGen UID:
331909
Concept ID:
C1835130
Finding
Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus . MAC is a common degenerative process involving the fibrous annulus of the mitral valve, and is generally an incidental finding associated with aging. This term applies if MAC occurs at a substantially younger age than usual.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The ability of a joint to move beyond its normal range of motion.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Fetal overgrowth
MedGen UID:
461631
Concept ID:
C3150281
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
Retrognathia
MedGen UID:
488375
Concept ID:
C3494422
Finding
A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the forehead.
Deeply set eye
MedGen UID:
8638
Concept ID:
C0014306
Disease or Syndrome
Abnormal recession of the eyeball within the eye socket.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
A congenital abnormality of the jaws (particularly the mandible) in which they are unusually small. This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes.
Dolichocephaly
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Tooth size discrepancy
MedGen UID:
781071
Concept ID:
C1317785
Finding
Overlapping teeth within an alveolar ridge.
Narrow palate
MedGen UID:
278045
Concept ID:
C1398312
Finding
Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
Increased axial globe length
MedGen UID:
320525
Concept ID:
C1835117
Finding
Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Narrow face
MedGen UID:
338616
Concept ID:
C1849121
Finding
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Fetal overgrowth
MedGen UID:
461631
Concept ID:
C3150281
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
Retrognathia
MedGen UID:
488375
Concept ID:
C3494422
Finding
A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the forehead.
Flexion contracture
MedGen UID:
3227
Concept ID:
C0009917
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Incisional hernia
MedGen UID:
488830
Concept ID:
C0267716
Finding
An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.
Reduced subcutaneous adipose tissue
MedGen UID:
387876
Concept ID:
C1857657
Finding
Striae distensae
MedGen UID:
57541
Concept ID:
C0152459
Acquired Abnormality
Linear dermal scars accompanied by epidermal atrophy that affects skin that is subjected to continuous stretching. They usually do not cause any significant medical problems, only cosmetic problems.
Reduced subcutaneous adipose tissue
MedGen UID:
387876
Concept ID:
C1857657
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Marfan syndrome in Orphanet.

Professional guidelines

PubMed

ACMG Board of Directors.
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. PMID: 25356965
Erbel R, Aboyans V, Boileau C, Bossone E, Bartolomeo RD, Eggebrecht H, Evangelista A, Falk V, Frank H, Gaemperli O, Grabenwöger M, Haverich A, Iung B, Manolis AJ, Meijboom F, Nienaber CA, Roffi M, Rousseau H, Sechtem U, Sirnes PA, Allmen RS, Vrints CJ; ESC Committee for Practice Guidelines.
Eur Heart J 2014 Nov 1;35(41):2873-926. Epub 2014 Aug 29 doi: 10.1093/eurheartj/ehu281. PMID: 25173340
Boodhwani M, Andelfinger G, Leipsic J, Lindsay T, McMurtry MS, Therrien J, Siu SC; Canadian Cardiovascular Society.
Can J Cardiol 2014 Jun;30(6):577-89. Epub 2014 Feb 28 doi: 10.1016/j.cjca.2014.02.018. PMID: 24882528
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics.
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. PMID: 23788249Free PMC Article
Pyeritz RE; American College of Medical Genetics and Genomics.
Genet Med 2012 Jan;14(1):171-7. Epub 2012 Jan 5 doi: 10.1038/gim.2011.48. PMID: 22237449
Arslan-Kirchner M, Arbustini E, Boileau C, Child A, Collod-Beroud G, De Paepe A, Epplen J, Jondeau G, Loeys B, Faivre L
Eur J Hum Genet 2010 Sep;18(9) Epub 2010 Apr 7 doi: 10.1038/ejhg.2010.42. PMID: 20372188Free PMC Article
Ades L; CSANZ Cardiovascular Genetics Working Group.
Heart Lung Circ 2007 Feb;16(1):28-30. Epub 2006 Dec 26 doi: 10.1016/j.hlc.2006.10.022. PMID: 17188935
Maron BJ, Chaitman BR, Ackerman MJ, Bayés de Luna A, Corrado D, Crosson JE, Deal BJ, Driscoll DJ, Estes NA 3rd, Araújo CG, Liang DH, Mitten MJ, Myerburg RJ, Pelliccia A, Thompson PD, Towbin JA, Van Camp SP; Working Groups of the American Heart Association Committee on Exercise, Cardiac Rehabilitation, and Prevention.; Councils on Clinical Cardiology and Cardiovascular Disease in the Young.
Circulation 2004 Jun 8;109(22):2807-16. doi: 10.1161/01.CIR.0000128363.85581.E1. PMID: 15184297
Pediatrics 1996 Nov;98(5):978-82. PMID: 8909500

External

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Orphanet, Marfan Syndrome, 2007

Suggested Reading

PubMed

Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM
J Med Genet 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. PMID: 20591885

Recent clinical studies

Etiology

Franken R, Teixido-Tura G, Brion M, Forteza A, Rodriguez-Palomares J, Gutierrez L, Garcia Dorado D, Pals G, Mulder BJ, Evangelista A
Heart 2017 Nov;103(22):1795-1799. Epub 2017 May 3 doi: 10.1136/heartjnl-2016-310631. PMID: 28468757
Smith K, Gros B
Congenit Heart Dis 2017 May;12(3):251-260. Epub 2017 Apr 2 doi: 10.1111/chd.12465. PMID: 28371362
Groth KA, Stochholm K, Hove H, Kyhl K, Gregersen PA, Vejlstrup N, Østergaard JR, Gravholt CH, Andersen NH
Clin Res Cardiol 2017 Feb;106(2):105-112. Epub 2016 Aug 22 doi: 10.1007/s00392-016-1028-3. PMID: 27550511
Price J, Magruder JT, Young A, Grimm JC, Patel ND, Alejo D, Dietz HC, Vricella LA, Cameron DE
J Thorac Cardiovasc Surg 2016 Feb;151(2):330-6. Epub 2015 Oct 27 doi: 10.1016/j.jtcvs.2015.10.068. PMID: 26704057
Peres P, Carvalho AC, Perez AB, Medeiros WM
Cardiol Young 2016 Oct;26(7):1274-81. Epub 2015 Nov 2 doi: 10.1017/S1047951115002322. PMID: 26521836

Diagnosis

Franken R, Teixido-Tura G, Brion M, Forteza A, Rodriguez-Palomares J, Gutierrez L, Garcia Dorado D, Pals G, Mulder BJ, Evangelista A
Heart 2017 Nov;103(22):1795-1799. Epub 2017 May 3 doi: 10.1136/heartjnl-2016-310631. PMID: 28468757
Smith K, Gros B
Congenit Heart Dis 2017 May;12(3):251-260. Epub 2017 Apr 2 doi: 10.1111/chd.12465. PMID: 28371362
Speed TJ, Mathur VA, Hand M, Christensen B, Sponseller PD, Williams KA, Campbell CM
Am J Med Genet A 2017 Feb;173(2):315-323. Epub 2016 Nov 14 doi: 10.1002/ajmg.a.38051. PMID: 27862906
Groth KA, Stochholm K, Hove H, Kyhl K, Gregersen PA, Vejlstrup N, Østergaard JR, Gravholt CH, Andersen NH
Clin Res Cardiol 2017 Feb;106(2):105-112. Epub 2016 Aug 22 doi: 10.1007/s00392-016-1028-3. PMID: 27550511
Price J, Magruder JT, Young A, Grimm JC, Patel ND, Alejo D, Dietz HC, Vricella LA, Cameron DE
J Thorac Cardiovasc Surg 2016 Feb;151(2):330-6. Epub 2015 Oct 27 doi: 10.1016/j.jtcvs.2015.10.068. PMID: 26704057

Therapy

Lee DY, Hyun HS, Huh R, Jin DK, Kim DK, Yoon BK, Choi D
J Korean Med Sci 2016 Feb;31(2):275-9. Epub 2016 Jan 26 doi: 10.3346/jkms.2016.31.2.275. PMID: 26839483Free PMC Article
Price J, Magruder JT, Young A, Grimm JC, Patel ND, Alejo D, Dietz HC, Vricella LA, Cameron DE
J Thorac Cardiovasc Surg 2016 Feb;151(2):330-6. Epub 2015 Oct 27 doi: 10.1016/j.jtcvs.2015.10.068. PMID: 26704057
Peres P, Carvalho AC, Perez AB, Medeiros WM
Cardiol Young 2016 Oct;26(7):1274-81. Epub 2015 Nov 2 doi: 10.1017/S1047951115002322. PMID: 26521836
Itagaki S, Chikwe JP, Chiang YP, Egorova NN, Adams DH
J Am Coll Cardiol 2015 Jun 9;65(22):2363-9. doi: 10.1016/j.jacc.2015.03.575. PMID: 26046728
Bhatt AB, Buck JS, Zuflacht JP, Milian J, Kadivar S, Gauvreau K, Singh MN, Creager MA
Vasc Med 2015 Aug;20(4):317-25. Epub 2015 Mar 20 doi: 10.1177/1358863X15569868. PMID: 25795452

Prognosis

Franken R, Teixido-Tura G, Brion M, Forteza A, Rodriguez-Palomares J, Gutierrez L, Garcia Dorado D, Pals G, Mulder BJ, Evangelista A
Heart 2017 Nov;103(22):1795-1799. Epub 2017 May 3 doi: 10.1136/heartjnl-2016-310631. PMID: 28468757
Smith K, Gros B
Congenit Heart Dis 2017 May;12(3):251-260. Epub 2017 Apr 2 doi: 10.1111/chd.12465. PMID: 28371362
Speed TJ, Mathur VA, Hand M, Christensen B, Sponseller PD, Williams KA, Campbell CM
Am J Med Genet A 2017 Feb;173(2):315-323. Epub 2016 Nov 14 doi: 10.1002/ajmg.a.38051. PMID: 27862906
Groth KA, Stochholm K, Hove H, Kyhl K, Gregersen PA, Vejlstrup N, Østergaard JR, Gravholt CH, Andersen NH
Clin Res Cardiol 2017 Feb;106(2):105-112. Epub 2016 Aug 22 doi: 10.1007/s00392-016-1028-3. PMID: 27550511
Peres P, Carvalho AC, Perez AB, Medeiros WM
Cardiol Young 2016 Oct;26(7):1274-81. Epub 2015 Nov 2 doi: 10.1017/S1047951115002322. PMID: 26521836

Clinical prediction guides

Franken R, Teixido-Tura G, Brion M, Forteza A, Rodriguez-Palomares J, Gutierrez L, Garcia Dorado D, Pals G, Mulder BJ, Evangelista A
Heart 2017 Nov;103(22):1795-1799. Epub 2017 May 3 doi: 10.1136/heartjnl-2016-310631. PMID: 28468757
Speed TJ, Mathur VA, Hand M, Christensen B, Sponseller PD, Williams KA, Campbell CM
Am J Med Genet A 2017 Feb;173(2):315-323. Epub 2016 Nov 14 doi: 10.1002/ajmg.a.38051. PMID: 27862906
Rabie HM, Malekifar P, Javadi MA, Roshandel D, Esfandiari H
Int Ophthalmol 2017 Aug;37(4):1025-1030. Epub 2016 Oct 5 doi: 10.1007/s10792-016-0366-5. PMID: 27709371
Groth KA, Stochholm K, Hove H, Kyhl K, Gregersen PA, Vejlstrup N, Østergaard JR, Gravholt CH, Andersen NH
Clin Res Cardiol 2017 Feb;106(2):105-112. Epub 2016 Aug 22 doi: 10.1007/s00392-016-1028-3. PMID: 27550511
Peres P, Carvalho AC, Perez AB, Medeiros WM
Cardiol Young 2016 Oct;26(7):1274-81. Epub 2015 Nov 2 doi: 10.1017/S1047951115002322. PMID: 26521836

Recent systematic reviews

Velvin G, Bathen T, Rand-Hendriksen S, Geirdal AØ
Clin Genet 2016 Jun;89(6):647-58. Epub 2016 Jan 25 doi: 10.1111/cge.12699. PMID: 26607862
Gritti A, Pisano S, Catone G, Iuliano R, Salvati T, Gritti P
Int J Psychiatry Med 2015;50(4):347-60. Epub 2015 Nov 2 doi: 10.1177/0091217415612701. PMID: 26526396
Pitcher A, Emberson J, Lacro RV, Sleeper LA, Stylianou M, Mahony L, Pearson GD, Groenink M, Mulder BJ, Zwinderman AH, De Backer J, De Paepe AM, Arbustini E, Erdem G, Jin XY, Flather MD, Mullen MJ, Child AH, Forteza A, Evangelista A, Chiu HH, Wu MH, Sandor G, Bhatt AB, Creager MA, Devereux RB, Loeys B, Forfar JC, Neubauer S, Watkins H, Boileau C, Jondeau G, Dietz HC, Baigent C
Am Heart J 2015 May;169(5):605-12. Epub 2015 Feb 12 doi: 10.1016/j.ahj.2015.01.011. PMID: 25965707Free PMC Article
Velvin G, Bathen T, Rand-Hendriksen S, Geirdal AØ
Clin Genet 2015 Feb;87(2):109-16. Epub 2014 Jun 4 doi: 10.1111/cge.12422. PMID: 24813698
Thakur V, Rankin KN, Hartling L, Mackie AS
Cardiol Young 2013 Aug;23(4):568-81. Epub 2012 Oct 19 doi: 10.1017/S1047951112001412. PMID: 23083542

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