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Marfan Syndrome beyond Aortic Root-Phenotyping Using Cardiovascular Magnetic Resonance Imaging and Clinical Implications.

ABSTRACT: Marfan syndrome (MFS) is an inherited autosomal-dominant connective tissue disorder with multiorgan involvement including musculoskeletal, respiratory, cardiovascular, ocular, and skin manifestations. Life expectancy in patients with MFS is primarily determined by the degree of cardiovascular involvement. Aortic disease is the major cardiovascular manifestation of MFS. However, non-aortic cardiac diseases, such as impaired myocardial function and arrhythmia, have been increasingly acknowledged as additional causes of morbidity and mortality. We present two cases demonstrating the phenotypical variation in patients with MFS and how CMR (Cardiovascular Magnetic Resonance) could serve as a "one stop shop" to retrieveS all the necessary information regarding aortic/vascular pathology as well as any potential underlying arrhythmogenic substrate or cardiomyopathic process.

SUBMITTER: Nyktari E

PROVIDER: S-EPMC10223153 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature

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Marfan Syndrome beyond Aortic Root-Phenotyping Using Cardiovascular Magnetic Resonance Imaging and Clinical Implications.

Nyktari Evangelia E Drakopoulou Maria M Rozos Panagiotis P Loukopoulou Sofia S Vrachliotis Thomas T Kourtidou Soultana S Toutouzas Konstantinos K

Medicina (Kaunas, Lithuania) 20230514 5

Marfan syndrome (MFS) is an inherited autosomal-dominant connective tissue disorder with multiorgan involvement including musculoskeletal, respiratory, cardiovascular, ocular, and skin manifestations. Life expectancy in patients with MFS is primarily determined by the degree of cardiovascular involvement. Aortic disease is the major cardiovascular manifestation of MFS. However, non-aortic cardiac diseases, such as impaired myocardial function and arrhythmia, have been increasingly acknowledged a ...[more]

PMID: 37241174

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Project description:ObjectivesLong-valved decellularized aortic homografts (DAH) may be used in young patients to treat aortic valve disease associated with aortic root dilatation, thereby eliminating the need for prosthetic material and anticoagulation.MethodsThirty-three male subjects in 3 equally sized cohorts were compared: patients following DAH implantation with a median age of 29 years [interquartile range (IQR) 27.5-37.5], patients post-valve-sparing aortic root replacement (VSARR), median 44 years (IQR 31.5-49) and healthy controls, median 33 years (IQR 28-40, P = 0.228). Time-resolved three-dimensional phase-contrast cardiac magnetic resonance imaging was performed to assess maximum blood flow velocity, pulse wave velocity, mechanical energy loss (EL), wall shear stress and flow patterns (vorticity, eccentricity, helicity) in 5 different planes of the aorta.ResultsThe mean time between surgery and cardiovascular magnetic resonance was 2.56 ± 2.0 years in DAH vs 2.67 ± 2.1 in VSARR, P = 0.500. No significant differences in maximum velocity and pulse wave velocity were found between healthy controls and DAH across all planes. Velocity in the proximal aorta was significantly higher in VSARR (182.91 ± 53.91 cm/s, P = 0.032) compared with healthy controls. EL was significantly higher in VSARR in the proximal aorta with 1.85 mW (IQR 1.39-2.95) compared with healthy controls, 1.06 mW (0.91-1.22, P = 0.016), as well as in the entire thoracic aorta. In contrast, there was no significant EL in DAH in the proximal, 1.27 m/W (0.92-1.53, P = 0.296), as well as in the thoracic aorta, 7.7 m/W (5.25-9.90, P = 0.114), compared with healthy controls. There were no significant differences in wall shear stress parameters for all 5 regions of the thoracic aorta between the 3 groups. DAH patients, however, showed more vorticity, helicity and eccentricity in the ascending aorta compared with healthy controls (P < 0.019).ConclusionsDecellularized long aortic homografts exhibit near to normal haemodynamic parameters 2.5 years postoperatively compared with healthy controls and VSARR.

Project description:BackgroundBright-blood and black-blood cardiovascular magnetic resonance (CMR) techniques are frequently employed together during a clinical exam because of their complementary features. While valuable, existing black-blood CMR approaches are flow dependent and prone to failure. We aim to assess the effectiveness and reliability of ferumoxytol enhanced (FE) Half-Fourier Single-shot Turbo Spin-echo (HASTE) imaging without magnetization preparation pulses to yield uniform intra-luminal blood signal suppression by comparing FE-HASTE with pre-ferumoxytol HASTE imaging.MethodsThis study was IRB-approved and HIPAA compliant. Consecutive patients who were referred for FE-CMR between June 2013 and February 2017 were enrolled. Qualitative image scores reflecting the degree and reliability of blood signal suppression were based on a 3-point Likert scale, with 3 reflecting perfect suppression. For quantitative evaluation, homogeneity indices (defined as standard deviation of the left atrial signal intensity) and signal-to-noise ratios (SNR) for vascular lumens and cardiac chambers were measured.ResultsOf the 340 unique patients who underwent FE-CMR, HASTE was performed in 257. Ninety-three patients had both pre-ferumoxytol HASTE and FE-HASTE, and were included in this analysis. Qualitative image scores reflecting the degree and reliability of blood signal suppression were significantly higher for FE-HASTE images (2.9 [IQR 2.8-3.0] vs 1.8 [IQR 1.6-2.1], p < 0.001). Inter-reader agreement was moderate (k = 0.50, 95% CI 0.45-0.55). Blood signal suppression was more complete on FE-HASTE images than on pre-ferumoxytol HASTE, as indicated by lower mean homogeneity indices (24.5 [IQR 18.0-32.8] vs 108.0 [IQR 65.0-170.4], p < 0.001) and lower blood pool SNR for all regions (5.6 [IQR 3.2-10.0] vs 21.5 [IQR 12.5-39.4], p < 0.001).ConclusionFE-HASTE black-blood imaging offers an effective, reliable, and simple approach for flow independent blood signal suppression. The technique holds promise as a fast and routine complement to bright-blood cardiovascular imaging with ferumoxytol.

Dataset Information

Marfan Syndrome beyond Aortic Root-Phenotyping Using Cardiovascular Magnetic Resonance Imaging and Clinical Implications.

Publications

Marfan Syndrome beyond Aortic Root-Phenotyping Using Cardiovascular Magnetic Resonance Imaging and Clinical Implications.

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