The revised Ghent nosology for the Marfan syndrome

Loeys, Bart; Dietz, Harry C.; Braverman, Alan C.; Callewaert, Bert; Backer, Julie De; Devereux, Richard B.; Hilhorst‐Hofstee, Yvonne; Jondeau, Guillaume; Faivre, Laurence; Milewicz, Dianna M.; Pyeritz, Reed E.; Sponseller, Paul D.; Wordsworth, P; Paepe, Anne M. De

doi:10.1136/jmg.2009.072785

Cited by 1,833 publications

(1,867 citation statements)

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“…This is of importance because recently the criteria for the diagnosis of MFS have been revised with a more important role for the diameter of the aortic sinus in confirming or rejecting the diagnosis in subjects suspected of having the syndrome. 8 The classic Z1 score assumes and extrapolates a linear association between BSA and aortic sinus diameter. Several studies focusing on this issue performed in individuals with BSA or body height > the 95th percentile question a linear relationship between aortic root diameter and BSA or body height in these larger subjects, 13,14 because they found a threshold of 40 mm as an absolute maximum for a normal human aortic root diameter.…”

Section: Discussionmentioning

confidence: 99%

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A clinical appraisal of different Z-score equations for aortic root assessment in the diagnostic evaluation of Marfan syndrome

Kimmenade

Kempers

Boer

et al. 2013

Genetics in Medicine

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Purpose: Aortic sinus diameter dilatation expressed as a Z-score >2.0 is diagnostic in Marfan syndrome. In addition to the classic equation (Z1) for calculating Z-scores, two new equations were recently introduced (Z2 and Z3). Methods:We studied the effects of obesity, age, and the absolute cut point of 40 mm on these three equations in 2,674 echocardiographic measurements of 260 patients with Marfan syndrome.Results: Diameters ≥40 mm were associated with Z1 scores <2.0 in 109 measurements (11.0%; 35 patients), Z2 scores <2.0 in 37 measurements (3.8%; 13 patients), and Z3 scores <2.0 in 24 measurements (2.4%; 11 patients). Mean diameters increased after the 40th birthday: 42.0 (37.3-44.8 mm interquartile range) to 42.5 (39.0-45.0 mm interquartile range; P = not significant) and mean Z1 scores decreased from 3.60 to 2.17 (P < 0.01), whereas Z2 and Z3 scores tended to increase (Z2: 3.04-3.27; Z3: 3.39-3.55; P = not significant for both). Comparing Z-scores between patients with body mass index <25 kg/m² (group A) and those with body mass index ≥25 kg/ m² (group B), median Z1 scores differed between groups (Z1 = 3.00 in group A, Z1 = 1.78 in group B; P = 0.012), whereas Z2 (Z2 = 2.82 in group A, Z2 = 2.47 in group B; P = 0.52) and Z3 scores (Z3 = 2.72 in group A, Z2 = 3.12 in group B; P = 0.32) did not. Conclusion:Z1 scores are inferior to Z2 and Z3 scores in Marfan syndrome. In particular, the Z3 score, correcting aortic sinus diameter for body height, seems excellent.Genet Med 2013:15(7):528-532

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Section: Discussionmentioning

confidence: 99%

“…8 The decision to include the Z-score in the diagnostic criteria for MFS not only gives more weight to aortic root dilation but also to the calculation of the Z-score itself.…”

Section: Introductionmentioning

confidence: 99%

A clinical appraisal of different Z-score equations for aortic root assessment in the diagnostic evaluation of Marfan syndrome

Kimmenade

Kempers

Boer

et al. 2013

Genetics in Medicine

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“…Standardised examination protocols exist for determining the likelihood clinically of MFS [5] and EDS [24].…”

Section: Clinical Diagnosismentioning

confidence: 99%

“…Computed tomography angiography or MRI of the entire aorta should be undertaken in MFS. The interval for repeat screening of a normally sized aorta is not stipulated in most publications [4,5,23]. The ESC Grown Up Congenital Heart Disease Guidelines suggest this be done on a five-yearly basis [33].…”

Section: Surveillance For Aortic Dilatation a Usual Practice Is Clinmentioning

confidence: 99%

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Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome

Zentner

West

Adès

2017

Heart, Lung and Circulation

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Key Points1. A number of inherited conditions can predispose the aorta, and less commonly other blood vessels, to dilatation and/ or rupture.2. Broadly speaking, these conditions are recognised as syndromic when accompanied by a number of systemic features or non-syndromic when the aortic dilatation appears to exist in isolation.3. The commonest syndromic aortopathy is Marfan syndrome and the commonest nonsyndromic aortopathy is that which accompanies congenital bicuspid aortic valve.4. Mutations in a number of genes have been identified, particularly in syndromic aortopathy.5. Although genotype-phenotype relationships exist, the phenotypes of the syndromic aortopathies may have significant overlap .6. When a syndromic aortopathy is suspected, review by a clinical geneticist is instrumental in characterising the clinical signs and the family history.7. Confirmation of a diagnosis (either clinically or by gene testing) allows identification of individuals at increased risk of aortic sequelae who will benefit from active medical management.8. Medical management is usually undertaken by a cardiologist with referral to other specialists (eg cardiothoracic surgeons) as appropriate.9. At risk family members should be offered predictive testing if a mutation is identified, and should otherwise be screened in keeping with the presumptive clinical diagnosis and assessment of risk.10. Pregnancy and the post-partum period confer a higher risk for aortic complications: a. Women with a personal or family history of aortopathy need appropriate preconception screening and counseling.b. Intervention may be required pre-conception and they should be managed closely throughout pregnancy, ideally in a high-risk obstetric clinic. A c c e p t e d M a n u s c r i p t 3 pregnancy, beta blockers can be used in pregnancy) and should include involvement of a cardiologist in the management and decision making for delivery.11. A clinical diagnosis of an inherited aortopathy can be made in the absence of a positive genetic test if the systemic features are consistent with a specific syndromic aortopathy. A familial history of aortic dissection in the absence of both a positive gene test and systemic examination findings may be more difficult to manage without a working clinical diagnosis. However, an inherited risk of dissection should nonetheless be considered in this setting, particularly if the process has affected young individuals and/or in the absence of traditional risk factors.

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