Marfan syndrome: A therapeutic challenge for long-term care

Wagner, Andreas H.; Zaradzki, Marcin; Arif, Rawa; Remes, Anca; Müller, Oliver; Kallenbach, Klaus

doi:10.1016/j.bcp.2019.03.034

Cited by 30 publications

(40 citation statements)

References 103 publications

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“…La enfermedad afecta principalmente los sistemas cardiovascular, ocular y esquelético. El diagnóstico se realiza basándose inicialmente en un minucioso examen clínico y una completa historia familiar, acompañada de ecocardiograma, evaluación oftalmológica y radiográfica 4,6 .…”

Section: Discussionunclassified

“…Las manifestaciones clínicas típicas se localizan a nivel ocular, con ectopia lentis, miopía o desprendimiento de retina; a nivel esquelético, con deformidades torácicas, aracnodactilia, escoliosis o hiperlaxitud articular; manifestaciones cardiovasculares como la insuficiencia aórtica y mitral, aneurismas y disección aórtica, así como endocarditis bacteriana 4 . Entre las deformidades torácicas el PE constituye una de las principales características fenotípicas asociadas 5 .…”

Section: Introductionunclassified

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Pectus excavatum como debut de síndrome de Marfan: reporte de caso

Sánchez

Cueva²,

López³

et al. 2021

RFCM

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Introducción: el Síndrome de Marfan (SM) es un trastorno autosómico dominante caracterizado por alteraciones del tejido conectivo; en el que la talla alta, las extremidades y dedos alargados se asocian con anormalidades en los sistemas cardiovascular, esquelético y ocular. Su diagnóstico se basa en los criterios de Ghent, que reúne hallazgos clínicos y factores hereditarios. Su principal complicación catastrófica es la dilatación y disección de aorta. Mediante el análisis del presente caso clínico se espera recabar las principales características relacionadas a esta importante patología que aporte argumentos claves a la literatura médica para un diagnóstico precoz y seguimiento oportuno que disminuya la morbimortalidad de esta enfermedad. Caso clínico: presentamos un paciente masculino en seguimiento por parte de Medicina Interna, por su pectus excavatum (PE), además presenta estrías cutáneas, signos de la muñeca y pulgar, escoliosis dorsal, proporción reducida del segmento superior/inferior, índice brazada/estatura aumentada y prolapso de válvula mitral, sumando un puntaje total de 8 en la escala de Ghent se confirma diagnóstico de SM. Conclusiones: el SM presenta una clínica heterogénea, cuyo diagnóstico se basa en los criterios de Ghent. Existe un alto riesgo de complicaciones aórticas, con alta tasa de mortalidad por lo que el diagnóstico temprano es fundamental.

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Section: Discussionunclassified

Section: Introductionunclassified

Pectus excavatum como debut de síndrome de Marfan: reporte de caso

Sánchez

Cueva²,

López³

et al. 2021

RFCM

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“…Consistently, losartan, an angiotensin receptor 1 inhibitor, prevented aortic aneurysm in MFS mice [ 209 ]. Of note, losartan, together with atenolol, is a pharmacological strategy given to MFS patients despite its demonstrated low efficiency in ameliorating aortic aneurysm [ 210 , 211 ]. A recent study in MFS mice has identified α-SMA as a possible redox stress target [ 197 ].…”

Section: Redox and Oxidative Stress In Genetic Diseases Of Connectmentioning

confidence: 99%

Reactive Oxygen Species and Oxidative Stress in the Pathogenesis and Progression of Genetic Diseases of the Connective Tissue

2020

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Connective tissue is known to provide structural and functional “glue” properties to other tissues. It contains cellular and molecular components that are arranged in several dynamic organizations. Connective tissue is the focus of numerous genetic and nongenetic diseases. Genetic diseases of the connective tissue are minority or rare, but no less important than the nongenetic diseases. Here we review the impact of reactive oxygen species (ROS) and oxidative stress on the onset and/or progression of diseases that directly affect connective tissue and have a genetic origin. It is important to consider that ROS and oxidative stress are not synonymous, although they are often closely linked. In a normal range, ROS have a relevant physiological role, whose levels result from a fine balance between ROS producers and ROS scavenge enzymatic systems. However, pathology arises or worsens when such balance is lost, like when ROS production is abnormally and constantly high and/or when ROS scavenge (enzymatic) systems are impaired. These concepts apply to numerous diseases, and connective tissue is no exception. We have organized this review around the two basic structural molecular components of connective tissue: The ground substance and fibers (collagen and elastic fibers).

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“…Additionally, TGF-β promotes accumulation of reactive oxygen species or nitrogen intermediates, which contribute to further fibre degradation. Recent studies identified a number of newly discovered molecular mechanisms, which interact with the TGF-β pathway including miR-29b, SMAD, activating protein-1, nicotinamide adenine dinucleotide phosphate oxidase-4, and the mTOR pathway [ 40 ] . The ultimate result of these changes is type A AD, with 70% lifetime prevalence [ 41 ] .…”

Section: Genetics and Its Role In Aortic Pathologiesmentioning

confidence: 99%

The Aortic Pathologies: How Far We Understand It and Its Implications on Thoracic Aortic Surgery

Harky

Sokal

Hasan

et al. 2020

Braz J Cardiovasc Surg

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Thoracic aortic diseases contribute to a major part of cardiac surgeries. The severity of pathologies varies significantly from emergency and life-threatening to conservatively managed conditions. Life-threatening conditions include type A aortic dissection and rupture. Aortic aneurysm is an example of a conservatively managed condition. Pathologies that affect the arterial wall can have a profound impact on the presentation of such cases. Several risk factors have been identified that increase the risk of emergency presentations such as connective tissue disease, hypertension, and vasculitis. The understanding of aortic pathologies is essential to improve management and clinical outcomes.

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Marfan syndrome: A therapeutic challenge for long-term care

Cited by 30 publications

References 103 publications

Pectus excavatum como debut de síndrome de Marfan: reporte de caso

Pectus excavatum como debut de síndrome de Marfan: reporte de caso

Reactive Oxygen Species and Oxidative Stress in the Pathogenesis and Progression of Genetic Diseases of the Connective Tissue

The Aortic Pathologies: How Far We Understand It and Its Implications on Thoracic Aortic Surgery

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