Evaluation of the adolescent or adult with some features of Marfan syndrome

Pyeritz, Reed E.

doi:10.1038/gim.2011.48

Cited by 23 publications

(14 citation statements)

References 20 publications

(17 reference statements)

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“…We diagnosed MFS with a causative FBN1 mutation, aortic root dilatation ≥2 Z-scores, ectopia lentis, a systematic score ≥7 points or a family history of MFS using Ghent criteria, 2 LDS with a TGFBR1 or TGFBR2 mutation and ≥1 clinical manifestation of LDS, TAAD according to ACMG, 20 and BAVD with a bicuspid aortic valve on echocardiography and exclusion of MFS and LDS. We designated the presence of any of these syndromes as GAS and absence of these syndromes as absence of GAS.…”

Section: Final Diagnosesmentioning

confidence: 99%

Total Serum Transforming Growth Factor‐β1 Is Elevated in the Entire Spectrum of Genetic Aortic Syndromes

Hillebrand

Millot

Sheikhzadeh

et al. 2014

Clinical Cardiology

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Background: Total serum transforming growth factor-beta 1 (tsTGF-β1) is increased in patients with Marfan syndrome (MFS), but it has not been assessed in thoracic aortic aneurysm and dissection (TAAD), Loeys-Dietz syndrome (LDS), and bicuspid aortic valve disease (BAVD). Hypothesis: tsTGF-β1 is increased in genetic aortic syndromes including TAAD, LDS, MFS, and BAVD. Methods: We measured tsTGF-β1 and performed sequencing of the genes FBN1, TGFBR1, and TGFBR2 in 317 consecutive patients with suspected or known genetic aortic syndrome (167 men, 150 women; mean age 43 ± 14 years). TAAD was diagnosed in 20, LDS in 20, MFS in 128, and BAVD in 30 patients, and genetic aortic syndrome was excluded in 119 patients. Results: Elevated tsTGF-β1 levels were associated with causative gene mutations (P = 0.008), genetic aortic syndrome (P = 0.009), and sporadic occurrence of genetic aortic syndrome (P = 0.048), whereas only genetic aortic syndrome qualified as an independent predictor of tsTGF-β1 (P = 0.001). The tsTGF-β1 levels were elevated in FBN1 and NOTCH1 mutations vs patients without mutations (both P = 0.004), and in NOTCH1 mutations vs ACTA2/MYH11 mutations (P = 0.015). Similarly, tsTGF-β1 levels were elevated in MFS (P = 0.003) and in BAVD (P = 0.006) vs patients without genetic aortic syndrome. In contrast to specific clinical features of MFS, FBN1 in-frame mutations (P = 0.019) were associated with increased tsTGF-β1 levels. Conclusions: tsTGF-β1 is elevated in the entire spectrum of genetic aortic syndromes. However, gradual differences in the increases of tsTGF-β1 levels may mirror different degrees of alteration of tsTGF-β1 signaling in different genetic aortic syndromes.

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Section: Final Diagnosesmentioning

confidence: 99%

Total Serum Transforming Growth Factor‐β1 Is Elevated in the Entire Spectrum of Genetic Aortic Syndromes

Hillebrand

Millot

Sheikhzadeh

et al. 2014

Clinical Cardiology

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“…Because these features overlap with several neonatal forms of well-described rare disorders such as Loeys-Dietz syn- drome, Marfan syndrome, and arterial tortuosity syndrome, 1 we performed whole-exome sequencing on the patient's and her parents' genomic DNA using Agilent SureSelect enrichment and Illumina 2ϫ100 paired-end protocol. To analyze and filter the data, we used a specific pipeline based on current best practices, 2,3 applying an autosomal recessive model.…”

mentioning

confidence: 99%

Extensive Arterial Tortuosity and Severe Aortic Dilation in a Newborn With an EFEMP2 Mutation

Iascone¹,

Sana²,

Pezzoli³

et al. 2012

Circulation

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“…Según algunos autores, se establece que la frecuencia cardíaca, la presión arterial sistólica y el gasto cardíaco aumentan durante el ejercicio dinámico (como, por ejemplo, correr) y durante el ejercicio de fuerza (como el levantamiento de pesas 7,37 ). La resistencia vascular periférica y la presión arterial diastólica tienden a disminuir durante el ejercicio dinámico, pero aumentan durante el ejercicio estático.…”

Section: Criterios De Exclusiónunclassified

Efectos del ejercicio físico en pacientes con síndrome de Marfán (revisión documental 2000-2016)

Flórez¹,

Giraldo²,

Calero³

et al. 2018

Duazary

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El síndrome de Marfán (SM) es un trastorno autosómico dominante del tejido conectivo que rodea a diferentes sistemas. El objetivo principal de este estudio es determinar los efectos del ejercicio físico en pacientes con SM reportados en la literatura durante el periodo 2000-2016. Así, se llevó a cabo una recopilación de artículos científicos provenientes de páginas indexadas en francés, inglés, español y portugués, que se referían al ejercicio físico en pacientes con SM. Los resultados arrojados por los diferentes autores, según se pudo comprobar, dieron a conocer los beneficios y las alteraciones que trae la realización de ejercicio físico en estos pacientes a nivel cardiopulmonar. Teniendo en cuenta los resultados de la revisión, que concluyen de forma unánime que el ejercicio de alta intensidad no debe ser prescrito para pacientes con SM, se concluyó que hacen falta guías de manejo que permitan realizar la prescripción del ejercicio y que expongan de manera específica los parámetros de la misma.

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Evaluation of the adolescent or adult with some features of Marfan syndrome

Cited by 23 publications

References 20 publications

Total Serum Transforming Growth Factor‐β1 Is Elevated in the Entire Spectrum of Genetic Aortic Syndromes

Total Serum Transforming Growth Factor‐β1 Is Elevated in the Entire Spectrum of Genetic Aortic Syndromes

Extensive Arterial Tortuosity and Severe Aortic Dilation in a Newborn With an EFEMP2 Mutation

Efectos del ejercicio físico en pacientes con síndrome de Marfán (revisión documental 2000-2016)

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