The Cardiovascular Aspects of Marfan's Syndrome: A Heritable Disorder of Connective Tissue

McKusick, Victor A.

doi:10.1161/01.cir.11.3.321

Cited by 479 publications

(135 citation statements)

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“…Many articles describe dilatation of the pulmonary artery as a sign of MFS, 1,[3][4][5][6][7] but documentation is sparse regarding the proportion of patients with dilated pulmonary artery in the MFS population as assessed using modern radiological methods. Although dilatation of the aortic root and of the pulmonary artery are often observed to be simultaneously present, 3 it has been suggested that pulmonary artery dilatation may be a sign of cardiovascular involvement in patients with MFS even in the absence of aortic disease.…”

Section: Introductionmentioning

confidence: 99%

The pulmonary artery in patients with Marfan syndrome: a cross-sectional study

Lundby

Rand‐Hendriksen

Hald

et al. 2012

Genetics in Medicine

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Purpose:The objectives of this study were to establish the prevalence of pulmonary artery dilatation in Marfan syndrome using modern radiological methods and to correlate the diameter of the vessel with aortic disease. methods: Magnetic resonance or computed tomography imaging of the pulmonary artery and aorta was performed in 87 patients with proven Marfan syndrome. Diameters of the root and trunk of the pulmonary artery and of the aortic root were measured perpendicular to the long axes of the vessels. Pulmonary artery diameters were measured on axial images, and aortic diameters were assessed on oblique sagittal images. Results:As compared with normal values in the literature, 47 of the 87 patients (54%) had widening of the trunk of the pulmonary artery (≥30 mm). Of these 47, 15% had no sign of disease of the ascending aorta. The mean (SD) ratio between the diameters of the root and trunk of the pulmonary artery was 1.18 (0.155). Multivariate analysis showed that surgery of the ascending aorta and high body surface area were associated with dilatation of the trunk of the pulmonary artery.conclusions: Pulmonary artery dilatation is present in a high proportion of patients with Marfan syndrome as assessed using cutoff values based on measurements in the normal population. Severe disease of the ascending aorta correlates significantly with pulmonary artery trunk dilatation in patients with Marfan syndrome. 2012:14(11):922-927 Genet Med

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Section: Introductionmentioning

confidence: 99%

The pulmonary artery in patients with Marfan syndrome: a cross-sectional study

Lundby

Rand‐Hendriksen

Hald

et al. 2012

Genetics in Medicine

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“…Classically, aortic root aneurysms occur in patients with connective-tissue disorders. 1 However, the majority of patients lack phenotypic expression of a connective-tissue disorder. Cystic medial degeneration is the pathologic feature for either etiology.…”

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confidence: 99%

Surgery for Aneurysms of the Aortic Root

et al. 2004

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Background-This study evaluated long-term results of aortic root replacement and valve-preserving aortic root reconstruction for patients with aneurysms involving the aortic root. Methods and Results-Two-hundred three patients aged 53Ϯ16 years (meanϮSD; 153 male, 50 female) underwent elective or urgent aortic root surgery from 1971 to 2000 for an aortic root aneurysm: 149 patients underwent a composite valve conduit reconstruction, and 54 patients underwent valve-preserving aortic root reconstruction. Fifty patients had Marfan syndrome. In-hospital and 30-day mortality was 4.0% (8/203) overall: for a composite valve conduit procedure, the corresponding value was 4.0% (6/149) and for valve-preserving procedure, 3.7% (2/54) (PϭNS). Morbidity included 3 strokes (1%), 10 perioperative myocardial infarctions (5%), and 8 reoperations for bleeding (4%). Actuarial survival at 5, 10, 15, and 20 years was 93% (95% confidence interval [CI] ϭ 88% to 97%), 79% (95% CI ϭ 71% to 87%), 67% (95% CI ϭ 57% to 79%), and 52% (95% CI ϭ 36% to 69%), respectively. Freedom from reoperation was 72% (95% CI ϭ 54% to 86%) at 20 years. Complications with anticoagulation occurred in 29 patients; with valve thrombosis, in 2; and with hemorrhage, in 27 (4 life threatening and 23 minor). Freedom from thromboembolism was 91% (95% CI ϭ 77% to 98%) at 20 years. Freedom from endocarditis was 99% (95% CI ϭ 92% to 100%) at 20 years. Multivariate analysis revealed preoperative mitral valve regurgitation (ϩ3 to 4) and older age to be significant predictors of late death (PՅ0.005), and Marfan syndrome, initial valve-preserving aortic root reconstruction, and need for a concomitant procedure at initial operation to be significant predictors of the need for reoperation (PՅ0.01). Conclusions-Aortic root replacement for aortic root aneurysms can be done with low morbidity and mortality. Composite valve conduit reconstruction resulted in a durable result. There were few serious complications related to the need for long-term anticoagulation or a prosthetic valve. Reoperation was most commonly required because of failure of the aortic valve when a valve-preserving aortic root reconstruction was performed or for other cardiac or aortic disease elsewhere.

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“…A dilatação do anel aórtico é a mais freqüente e a dissecção de aorta, a complicação mais grave 4 . Entretanto, têm sido descritas grandes variações do espectro do acometimento, principalmente em aorta e em valvas cardíacas [4][5][6] . A insuficiência mitral é encontrada com freqüência em adultos acometidos por essa síndrome e ocorre devido à redundância das cúspides e cordas tendíneas que levam ao prolapso valvar 1 .…”

Section: Discussionunclassified

Caso 5/98 - Instituto do Coração do Hospital das Clínicas - FMUSP

1998

Arq. Bras. Cardiol.

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Homem de 68 anos de idade, foi encaminhado ao hospital para tratamento cirúrgico de insuficiência tricúspide.Em 1972, o paciente foi submetido a cirurgia de aneurisma de aorta torácica. Depois da operação, o paciente teve boa evolução com o tratamento clínico, apresentando dispnéia aos grandes esforços.Em 1990 foi hospitalizado em razão de anasarca. Foram diagnosticadas insuficiência da valva tricúspide e fibrilação atrial. A anasarca foi atribuída à cirrose hepática, seguindose tratamento clínico.Em 1991 foi submetido a colecistectomia. A biópsia hepática transoperatória revelou padrão inflamatório moderado e sinais de congestão crônica.Cinco anos após (11/8/96) apresentou dor lombar intensa, bilateral e dispnéia. Procurou atendimento médico, tendo sido hospitalizado. Foram prescritos digoxina, dobutamina, furosemida e diclofenaco. Seguiu-se hipotensão arterial, oligúria e elevação da taxa sérica de creatinina para 3,5mg/dL.Transferido para outro hospital, onde foi feito o diagnóstico de fibrilação atrial e bloqueio atrioventricular; foi instalado marcapasso provisório. A digoxinemia foi 3,8ng/mL (normal até 2,2ng/mL). Foi interrompida a administração de digoxina e foram administradas dobutamina e dopamina por via endovenosa, nitroglicerina por via transdérmica e heparina de baixo peso molecular por via subcutânea. A hipotensão arterial foi controlada e a função renal melhorada.A endoscopia (12/8/96), revelou varizes de fino calibre em esôfago e gastrite enantemosa de moderada intensidade em corpo e antro do estômago.O exame ultra-sonográfico do abdome (22/8/96) revelou hepatomegalia, ascite moderada, grande dilatação da veia cava inferior e esplenomegalia. Os achados foram considerados compatíveis com hepatopatia crônica e hipertensão portal.A tomografia computadorizada do tórax e do abdome, sem uso de contraste, não revelou sinais de rotura de aorta torácica ou abdominal.

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The Cardiovascular Aspects of Marfan's Syndrome: A Heritable Disorder of Connective Tissue

Cited by 479 publications

References 1 publication

The pulmonary artery in patients with Marfan syndrome: a cross-sectional study

The pulmonary artery in patients with Marfan syndrome: a cross-sectional study

Surgery for Aneurysms of the Aortic Root

Caso 5/98 - Instituto do Coração do Hospital das Clínicas - FMUSP

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