When Should Surgery Be Performed in Marfan Syndrome and Other Connective Tissue Disorders to Protect Against Type A Dissection?

Kodolitsch, Yskert Von; Robinson, Peter N.; Berger, Jürgen

doi:10.1007/978-1-4471-5622-2_2

Cited by 14 publications

(9 citation statements)

References 204 publications

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“…The risk for aortic dissection and rupture increases with growth of the aortic diameter, and hence the dilatation of the aortic root is a highly important prognostic trigger in MFS. 75 However, other manifestations of MFS can also trigger complications: dilatation of the thoracic or abdominal aorta and sleep-disordered breathing can lead to dissection or rupture; mitral valve prolapse to severe insufficiency or infective endocarditis; myocardial dysfunction to heart failure or sudden cardiac death; ectopia lentis or myopia to retinal detachment, glaucoma, or amaurosis; and apical pulmonary blebs to pneumothorax. Similarly, in some rare instances, dilatation of the main pulmonary artery can lead to dissection or rupture; skeletal malformations to impaired cardiorespiratory function, radiculopathy, or atlantoaxial or lumbal subluxation; osteopenia to fractures; and dural ectasia to intrapelvic meningocele and to dural leak with postural headache ( Table 2 ).…”

Section: Manifestations Of Mfsmentioning

confidence: 99%

“…The definitive diagnosis of a specific genetic syndrome implies that there are different therapeutic approaches even to highly relevant manifestations, such as aortic root disease. 75 , 93 Hence, one should avoid relying on a solely clinical diagnosis of MFS. 97 , 98 Whenever MFS remains uncertain or diagnostic triggers of other diseases are observed, phenotypes should be explained by the presence of alternative syndromes, such as Loeys–Dietz syndrome.…”

Section: Perspectives From the Clinicmentioning

confidence: 99%

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Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

Kodolitsch¹,

Backer²,

Schuler³

et al. 2015

TACG

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143

122

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Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2). We reviewed the literature and discussed the challenges and concepts of diagnosing MFS in adults. Ghent-1 proposed more stringent clinical criteria, which led to the confirmation of MFS in only 32%–53% of patients formerly diagnosed with MFS according to the Berlin nosology. Conversely, both the Ghent-1 and Ghent-2 nosologies diagnosed MFS, and both yielded similar frequencies of MFS in persons with a causative FBN1 mutation (90% for Ghent-1 versus 92% for Ghent-2) and in persons not having a causative FBN1 mutation (15% versus 13%). Quality criteria for diagnostic methods include objectivity, reliability, and validity. However, the nosology-based diagnosis of MFS lacks a diagnostic reference standard and, hence, quality criteria such as sensitivity, specificity, or accuracy cannot be assessed. Medical utility of diagnosis implies congruency with the historical criteria of MFS, as well as with information about the etiology, pathogenesis, diagnostic triggers, prognostic triggers, and potential complications of MFS. In addition, social and psychological utilities of diagnostic criteria include acceptance by patients, patient organizations, clinicians and scientists, practicability, costs, and the reduction of anxiety. Since the utility of a diagnosis or exclusion of MFS is context-dependent, prioritization of utilities is a strategic decision in the process of nosology development. Screening tests for MFS should be used to identify persons with MFS. To confirm the diagnosis of MFS, Ghent-1 and Ghent-2 perform similarly, but Ghent-2 is easier to use. To maximize the utility of the diagnostic criteria of MFS, a fair and transparent process of nosology development is essential.

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Section: Manifestations Of Mfsmentioning

confidence: 99%

Section: Perspectives From the Clinicmentioning

confidence: 99%

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

Kodolitsch¹,

Backer²,

Schuler³

et al. 2015

TACG

Self Cite

143

122

View full text Add to dashboard Cite

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“…As a result, annual cross-sectional imaging is mandatory for monitoring aortic root dimensions in Marfan patients to determine if and when aortic root replacement is indicated [17,18]. Imaging modalities that allow precise, reproducible, operator-independent and standardized assessment of the aorta are crucial in the follow-up of Marfan patients.…”

Section: Introductionmentioning

confidence: 99%

Reliability of non-contrast magnetic resonance angiography-derived aortic diameters in Marfan patients: comparison of inner vs. outer vessel wall measurements

Weinrich

Avanesov

Lenz

et al. 2020

Int J Cardiovasc Imaging

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Aortic diameter measurements play a crucial role for the indication of aortic root surgery in Marfan patients. However, for magnetic resonance angiography (MRA)-derived measurements, there is no consensus on whether the aortic wall should be included or excluded in the aortic diameter. The purpose of this retrospective study was to compare the reliability of noncontrast bright blood MRA aortic inner-to-inner and outer-to-outer edge measurements in patients with Marfan syndrome. Forty Marfan patients underwent ECG-gated balanced steady-state free-precession MRA of the aorta at 1.5 T. Two readers independently performed inner and outer measurements at different aortic levels. They rated the image quality of the delineation of both inner and outer vessel wall edges on a four-point scale. MRA-derived diameters of the sinuses of Valsalva were compared with echocardiography-derived diameters. Aortic vessel wall delineation score was rated higher at all levels for inner than for outer vessel walls (p < 0.001). Inter-and intraobserver variances of aortic measurements were smaller for inner-to-inner measurements at the sinuses of Valsalva, sinotubular junction and ascending aorta (p < 0.03). There was a difference of 1.1 ± 2.3 mm for inner MRA measurements (p = 0.014) and 6.9 ± 3.1 mm for outer MRA measurements (p < 0.001) when compared to echocardiographic leading-edge measurements. Inner-to-inner vessel wall diameter measurements in non-contrast bright blood MRA provide more reliable diameters when compared to outer-to-outer vessel wall measurements of the aortic root. Therefore, we propose to rely on inner rather than outer aortic wall measurements in non-contrast-MRA when monitoring aortic diameters in patients with Marfan syndrome.

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“…To avoid acute aortic syndromes in MFS, prophylactic surgery of the aortic root should be performed when indicated according to the recommendation of the American Heart Association and European Society of Cardiology guidelines 53. Furthermore, the operative risk of a planned procedure is very low in this young patient group.…”

Section: Team Membersmentioning

confidence: 99%

The role of the multidisciplinary health care team in the management of patients with Marfan syndrome

Kodolitsch¹,

Rybczynski²,

Vogler³

et al. 2016

JMDH

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Marfan syndrome (MFS) is a rare, severe, chronic, life-threatening disease with multiorgan involvement that requires optimal multidisciplinary care to normalize both prognosis and quality of life. In this article, each key team member of all the medical disciplines of a multidisciplinary health care team at the Hamburg Marfan center gives a personal account of his or her contribution in the management of patients with MFS. The authors show how, with the support of health care managers, key team members organize themselves in an organizational structure to create a common meaning, to maximize therapeutic success for patients with MFS. First, we show how the initiative and collaboration of patient representatives, scientists, and physicians resulted in the foundation of Marfan centers, initially in the US and later in Germany, and how and why such centers evolved over time. Then, we elucidate the three main structural elements; a team of coordinators, core disciplines, and auxiliary disciplines of health care. Moreover, we explain how a multidisciplinary health care team integrates into many other health care structures of a university medical center, including external quality assurance; quality management system; clinical risk management; center for rare diseases; aorta center; health care teams for pregnancy, for neonates, and for rehabilitation; and in structures for patient centeredness. We provide accounts of medical goals and standards for each core discipline, including pediatricians, pediatric cardiologists, cardiologists, human geneticists, heart surgeons, vascular surgeons, vascular interventionists, orthopedic surgeons, ophthalmologists, and nurses; and of auxiliary disciplines including forensic pathologists, radiologists, rhythmologists, pulmonologists, sleep specialists, orthodontists, dentists, neurologists, obstetric surgeons, psychiatrist/psychologist, and rehabilitation specialists. We conclude that a multidisciplinary health care team is a means to maximize therapeutic success.

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When Should Surgery Be Performed in Marfan Syndrome and Other Connective Tissue Disorders to Protect Against Type A Dissection?

Cited by 14 publications

References 204 publications

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

Reliability of non-contrast magnetic resonance angiography-derived aortic diameters in Marfan patients: comparison of inner vs. outer vessel wall measurements

The role of the multidisciplinary health care team in the management of patients with Marfan syndrome

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