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Marfan's syndrome(MFS)

MedGen UID:
44287
Concept ID:
C0024796
Disease or Syndrome
Synonyms: Marfan syndrome; Marfan syndrome type 1; Marfan syndrome, classic; MARFAN SYNDROME, TYPE I; Marfanoid hypermobility syndrome; MFS
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Marfan syndrome (19346006); Marfan's syndrome (19346006); Marfan's disease (19346006)
 
Gene (location): FBN1 (15q21.1)
OMIM®: 154700
Orphanet: ORPHA558

Disease characteristics

Excerpted from the GeneReview: Marfan Syndrome
Marfan syndrome is a systemic disorder of connective tissue with a high degree of clinical variability. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. FBN1 pathogenic variants associate with a broad phenotypic continuum, ranging from isolated features of Marfan syndrome to neonatal presentation of severe and rapidly progressive disease in multiple organ systems. Myopia is the most common ocular feature; displacement of the lens from the center of the pupil, seen in approximately 60% of affected individuals, is a hallmark feature. People with Marfan syndrome are at increased risk for retinal detachment, glaucoma, and early cataract formation. The skeletal system involvement is characterized by bone overgrowth and joint laxity. The extremities are disproportionately long for the size of the trunk (dolichostenomelia). Overgrowth of the ribs can push the sternum in (pectus excavatum) or out (pectus carinatum). Scoliosis is common and can be mild or severe and progressive. The major sources of morbidity and early mortality in the Marfan syndrome relate to the cardiovascular system. Cardiovascular manifestations include dilatation of the aorta at the level of the sinuses of Valsalva, a predisposition for aortic tear and rupture, mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Harry C Dietz   view full author information

Additional descriptions

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.  http://ghr.nlm.nih.gov/condition/marfan-syndrome

Clinical features

Tall stature
MedGen UID:
69137
Concept ID:
C0241240
Finding
Overgrowth
MedGen UID:
376550
Concept ID:
C1849265
Finding
Increased axial globe length
MedGen UID:
320525
Concept ID:
C1835117
Finding
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
Narrow face
MedGen UID:
373334
Concept ID:
C1837463
Finding
Overgrowth
MedGen UID:
376550
Concept ID:
C1849265
Finding
Retrognathia
MedGen UID:
376696
Concept ID:
C1850067
Finding
Dolichocephaly
MedGen UID:
344363
Concept ID:
C1854767
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Downslanted palpebral fissures
MedGen UID:
400661
Concept ID:
C1865016
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Narrow palate
MedGen UID:
504384
Concept ID:
CN000184
Finding
Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
High palate
MedGen UID:
504397
Concept ID:
CN000211
Finding
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).
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Dental crowding
MedGen UID:
504553
Concept ID:
CN000638
Finding
Overlapping teeth within an alveolar ridge.
Increased axial globe length
MedGen UID:
320525
Concept ID:
C1835117
Finding
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Glaucoma
MedGen UID:
409541
Concept ID:
C1962986
Finding
Retinal detachment
MedGen UID:
368440
Concept ID:
C1963229
Finding
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Myopia
MedGen UID:
504487
Concept ID:
CN000511
Finding
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Esotropia
MedGen UID:
504499
Concept ID:
CN000530
Finding
A form of strabismus with one or both eyes turned inward ('crossed').
Exotropia
MedGen UID:
504505
Concept ID:
CN000542
Finding
A form of strabismus with one or both eyes deviated outward.
Ectopia lentis
MedGen UID:
504717
Concept ID:
CN001016
Finding
Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
Hypoplasia of the iris
MedGen UID:
506103
Concept ID:
CN006730
Finding
Congenital underdevelopment of the iris.
Dural ectasia
MedGen UID:
377094
Concept ID:
C1851712
Finding
Arachnodactyly
MedGen UID:
371636
Concept ID:
C1833730
Finding
Premature calcification of mitral annulus
MedGen UID:
331909
Concept ID:
C1835130
Finding
Overgrowth
MedGen UID:
376550
Concept ID:
C1849265
Finding
Retrognathia
MedGen UID:
376696
Concept ID:
C1850067
Finding
Protrusio acetabuli
MedGen UID:
339918
Concept ID:
C1853166
Finding
Dolichocephaly
MedGen UID:
344363
Concept ID:
C1854767
Finding
Premature osteoarthritis
MedGen UID:
347067
Concept ID:
C1859110
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Pectus excavatum
MedGen UID:
504591
Concept ID:
CN000721
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Pectus carinatum
MedGen UID:
504592
Concept ID:
CN000722
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
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.
Joint hypermobility
MedGen UID:
504821
Concept ID:
CN001265
Finding
The ability of a joint to move beyond its normal range of motion.
Hammertoe
MedGen UID:
504946
Concept ID:
CN001605
Finding
Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.
Kyphoscoliosis
MedGen UID:
425109
Concept ID:
CN002496
Finding
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Genu recurvatum
MedGen UID:
505362
Concept ID:
CN002543
Finding
An abnormally increased extension of the knee joint, so that the knee can bend backwards.
Spondylolisthesis
MedGen UID:
505511
Concept ID:
CN002979
Finding
Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.
Incisional hernia
MedGen UID:
505711
Concept ID:
CN004317
Finding
An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.
Decreased subcutaneous fat
MedGen UID:
371978
Concept ID:
C1835128
Finding
Striae distensae
MedGen UID:
368799
Concept ID:
C1963160
Finding
Premature calcification of mitral annulus
MedGen UID:
331909
Concept ID:
C1835130
Finding
Mitral valve prolapse
MedGen UID:
504880
Concept ID:
CN001487
Finding
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Congestive heart failure
MedGen UID:
504881
Concept ID:
CN001488
Finding
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Mitral regurgitation
MedGen UID:
504894
Concept ID:
CN001505
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.
Aortic regurgitation
MedGen UID:
504897
Concept ID:
CN001510
Finding
An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
Tricuspid valve prolapse
MedGen UID:
504921
Concept ID:
CN001549
Finding
One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.
Aortic root dilatation
MedGen UID:
505296
Concept ID:
CN002378
Finding
Ascending aortic aneurysm
MedGen UID:
505305
Concept ID:
CN002392
Finding
A bulging, weakened area in the wall of the ascending thoracic aorta.
Aortic dissection
MedGen UID:
427921
Concept ID:
CN002407
Finding
Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.
Pulmonary artery dilatation
MedGen UID:
505721
Concept ID:
CN004370
Finding
An abnormal widening of the diameter of the pulmonary artery.
Pneumothorax
MedGen UID:
409583
Concept ID:
C1963215
Finding
Emphysema
MedGen UID:
425087
Concept ID:
CN001898
Finding
Pulmonary artery dilatation
MedGen UID:
505721
Concept ID:
CN004370
Finding
An abnormal widening of the diameter of the pulmonary artery.
Decreased muscle mass
MedGen UID:
324803
Concept ID:
C1837466
Finding
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
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 subcutaneous fat
MedGen UID:
371978
Concept ID:
C1835128
Finding
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
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:
505711
Concept ID:
CN004317
Finding
An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.
Arachnodactyly
MedGen UID:
371636
Concept ID:
C1833730
Finding
Medial rotation of the medial malleolus
MedGen UID:
322582
Concept ID:
C1835126
Finding
Protrusio acetabuli
MedGen UID:
339918
Concept ID:
C1853166
Finding
Pes cavus
MedGen UID:
425071
Concept ID:
CN001601
Finding
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.
Pes planus
MedGen UID:
427894
Concept ID:
CN001603
Finding
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Hammertoe
MedGen UID:
504946
Concept ID:
CN001605
Finding
Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.
Genu recurvatum
MedGen UID:
505362
Concept ID:
CN002543
Finding
An abnormally increased extension of the knee joint, so that the knee can bend backwards.

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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

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

Lacro RV, Dietz HC, Sleeper LA, Yetman AT, Bradley TJ, Colan SD, Pearson GD, Selamet Tierney ES, Levine JC, Atz AM, Benson DW, Braverman AC, Chen S, De Backer J, Gelb BD, Grossfeld PD, Klein GL, Lai WW, Liou A, Loeys BL, Markham LW, Olson AK, Paridon SM, Pemberton VL, Pierpont ME, Pyeritz RE, Radojewski E, Roman MJ, Sharkey AM, Stylianou MP, Wechsler SB, Young LT, Mahony L; Pediatric Heart Network Investigators
N Engl J Med 2014 Nov 27;371(22):2061-71. Epub 2014 Nov 18 doi: 10.1056/NEJMoa1404731. [Epub ahead of print] PMID: 25405392Free PMC Article
Yim ES
Sports Med 2013 Aug;43(8):721-32. doi: 10.1007/s40279-013-0057-6. PMID: 23674060
Kangath RV, Midturi J
BMJ Case Rep 2013 Mar 5;2013 doi: 10.1136/bcr-2013-008592. PMID: 23462652Free PMC Article
Allyn J, Guglielminotti J, Omnes S, Guezouli L, Egan M, Jondeau G, Longrois D, Montravers P
Anesth Analg 2013 Feb;116(2):392-8. Epub 2013 Jan 9 doi: 10.1213/ANE.0b013e3182768f78. [Epub ahead of print] PMID: 23302979
Kohler M, Pitcher A, Blair E, Risby P, Senn O, Forfar C, Wordsworth P, Stradling JR
Respiration 2013;86(1):39-44. Epub 2012 Sep 20 doi: 10.1159/000340008. [Epub ahead of print] PMID: 23006517

Diagnosis

Peter R, Indiran V, Kannan K, Maduraimuthu P, Varadarajan C
Hernia 2014 Jun;18(3):439-42. Epub 2014 Jan 12 doi: 10.1007/s10029-014-1216-x. [Epub ahead of print] PMID: 24415041
Chaudhry M, Grover S, Baisakhiya S, Sharma N, Bajaj A
Int Ophthalmol 2014 Feb;34(1):129-32. Epub 2013 Mar 12 doi: 10.1007/s10792-013-9750-6. [Epub ahead of print] PMID: 23479050
Yim ES
Sports Med 2013 Aug;43(8):721-32. doi: 10.1007/s40279-013-0057-6. PMID: 23674060
Ukponmwan CU
Niger Postgrad Med J 2013 Mar;20(1):24-8. PMID: 23661206
Kangath RV, Midturi J
BMJ Case Rep 2013 Mar 5;2013 doi: 10.1136/bcr-2013-008592. PMID: 23462652Free PMC Article

Therapy

Lacro RV, Dietz HC, Sleeper LA, Yetman AT, Bradley TJ, Colan SD, Pearson GD, Selamet Tierney ES, Levine JC, Atz AM, Benson DW, Braverman AC, Chen S, De Backer J, Gelb BD, Grossfeld PD, Klein GL, Lai WW, Liou A, Loeys BL, Markham LW, Olson AK, Paridon SM, Pemberton VL, Pierpont ME, Pyeritz RE, Radojewski E, Roman MJ, Sharkey AM, Stylianou MP, Wechsler SB, Young LT, Mahony L; Pediatric Heart Network Investigators
N Engl J Med 2014 Nov 27;371(22):2061-71. Epub 2014 Nov 18 doi: 10.1056/NEJMoa1404731. [Epub ahead of print] PMID: 25405392Free PMC Article
Kangath RV, Midturi J
BMJ Case Rep 2013 Mar 5;2013 doi: 10.1136/bcr-2013-008592. PMID: 23462652Free PMC Article
Allyn J, Guglielminotti J, Omnes S, Guezouli L, Egan M, Jondeau G, Longrois D, Montravers P
Anesth Analg 2013 Feb;116(2):392-8. Epub 2013 Jan 9 doi: 10.1213/ANE.0b013e3182768f78. [Epub ahead of print] PMID: 23302979
Gao L, Mao Q, Wen D, Zhang L, Zhou X, Hui R
Acta Paediatr 2011 Sep;100(9):e101-5. Epub 2011 May 5 doi: 10.1111/j.1651-2227.2011.02293.x. [Epub ahead of print] PMID: 21443687
Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC 3rd
N Engl J Med 2008 Jun 26;358(26):2787-95. doi: 10.1056/NEJMoa0706585. PMID: 18579813Free PMC Article

Prognosis

Yim ES
Sports Med 2013 Aug;43(8):721-32. doi: 10.1007/s40279-013-0057-6. PMID: 23674060
Kohler M, Pitcher A, Blair E, Risby P, Senn O, Forfar C, Wordsworth P, Stradling JR
Respiration 2013;86(1):39-44. Epub 2012 Sep 20 doi: 10.1159/000340008. [Epub ahead of print] PMID: 23006517
Hoffmann BA, Rybczynski M, Rostock T, Servatius H, Drewitz I, Steven D, Aydin A, Sheikhzadeh S, Darko V, von Kodolitsch Y, Willems S
Int J Cardiol 2013 Sep 10;167(6):2539-45. Epub 2012 Jun 26 doi: 10.1016/j.ijcard.2012.06.036. [Epub ahead of print] PMID: 22738784
Williams-Phillips S
West Indian Med J 2012 Dec;61(9):937-40. PMID: 24020239
Evcimik MF, Ozkurt FE, Karavus A, Sapci T
Laryngoscope 2012 Feb;122(2):389-92. Epub 2012 Jan 17 doi: 10.1002/lary.22400. [Epub ahead of print] PMID: 22252411

Clinical prediction guides

Lacro RV, Dietz HC, Sleeper LA, Yetman AT, Bradley TJ, Colan SD, Pearson GD, Selamet Tierney ES, Levine JC, Atz AM, Benson DW, Braverman AC, Chen S, De Backer J, Gelb BD, Grossfeld PD, Klein GL, Lai WW, Liou A, Loeys BL, Markham LW, Olson AK, Paridon SM, Pemberton VL, Pierpont ME, Pyeritz RE, Radojewski E, Roman MJ, Sharkey AM, Stylianou MP, Wechsler SB, Young LT, Mahony L; Pediatric Heart Network Investigators
N Engl J Med 2014 Nov 27;371(22):2061-71. Epub 2014 Nov 18 doi: 10.1056/NEJMoa1404731. [Epub ahead of print] PMID: 25405392Free PMC Article
Hoffmann BA, Rybczynski M, Rostock T, Servatius H, Drewitz I, Steven D, Aydin A, Sheikhzadeh S, Darko V, von Kodolitsch Y, Willems S
Int J Cardiol 2013 Sep 10;167(6):2539-45. Epub 2012 Jun 26 doi: 10.1016/j.ijcard.2012.06.036. [Epub ahead of print] PMID: 22738784
Yuan SM, Ma HH, Zhang RS, Jing H
Vasa 2011 Sep;40(5):369-74. doi: 10.1024/0301-1526/a000133. PMID: 21948779
Gao L, Mao Q, Wen D, Zhang L, Zhou X, Hui R
Acta Paediatr 2011 Sep;100(9):e101-5. Epub 2011 May 5 doi: 10.1111/j.1651-2227.2011.02293.x. [Epub ahead of print] PMID: 21443687
Jonszta T, Prochazka V, Czerny D, Vavrova M, Chmelova J
Vasa 2008 Nov;37(4):364-70. doi: 10.1024/0301-1526.37.4.364. PMID: 19003748

Recent systematic reviews

Mo L, He Q, Wang Y, Dong B, He J
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