Abnormal aortic hemodynamics are associated with risk factors for aortic complications in patients with marfan syndrome

Andĕl, M; Ooij, Pim van; Waard, Vivian de; Gottwald, Lukas M.; Kimmenade, Roland R.J. van; Scholte, Arthur J.; Dickinson, Michael G.; Zwinderman, Aeilko H.; Mulder, Barbara J.M.; Nederveen, Aart J.; Groenink, Maarten

doi:10.1016/j.ijcha.2022.101128

Cited by 2 publications

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References 30 publications

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“…It quantifies flow similarly to 2D-cine phasecontrast CMR, has good scan repeatability, and allows for analyzing wall shear stress or turbulent kinetic energy in patients with HTADs [29]. In fact, van Andel and colleagues recently demonstrated that abnormal aortic hemodynamics are associated with aortic complications in patients with MS, especially if patients are male and have a haploinsufficient type of FBN1 mutation [34]. Cardiovascular magnetic resonance (CMR) is a valid imaging tool for aorta visualization that recently demonstrated good and consistent reproducibility in various contexts.…”

Section: Imaging In Htadsmentioning

confidence: 99%

Hereditary Thoracic Aortic Diseases

Spaziani,

Surace,

Girolami

et al. 2024

Diagnostics

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Advances in both imaging techniques and genetics have led to the recognition of a wide variety of aortic anomalies that can be grouped under the term ‘hereditary thoracic aortic diseases’. The present review aims to summarize this very heterogeneous population’s clinical, genetic, and imaging characteristics and to discuss the implications of the diagnosis for clinical counselling (on sports activity or pregnancy), medical therapies and surgical management.

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Section: Imaging In Htadsmentioning

confidence: 99%

Hereditary Thoracic Aortic Diseases

Spaziani,

Surace,

Girolami

et al. 2024

Diagnostics

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“…Entre las características de este padecimiento, se encuentran las mutaciones en el gen FBN1 que afectan no solo la predisposición al síndrome, (6) sino también la expresión de sus manifestaciones clínicas. Estas incluyen alteraciones esqueléticas como la aracnodactilia, complicaciones cardiovasculares graves como la dilatación de la raíz aórtica, (7) y problemas oculares como la ectopia lentis. (8) Reconocer estos signos de manera temprana y aplicar tratamientos basados en evidencia son cruciales.…”

Section: Introductionunclassified

Evaluation and Prioritization of Training Programs for the Management of Marfan Syndrome

Ezcurdia Barzaga,

Troya Altamirano,

Betancourt Rubio

2023

Data and Metadata

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Introduction: Marfan Syndrome has been a connective tissue disease affecting multiple systems of the body, requiring an interdisciplinary diagnostic and therapeutic approach. The variability in presentation and potential complications underscored the need for precise and specialized medical training. Therefore, the general objective of this research is to evaluate specific training programs to improve the diagnosis and management of Marfan Syndrome by identifying critical gaps in current medical practice.Method: Multicriteria decision-making methodologies were used, including the AHP Saaty method to quantify the incidence of diagnostic gaps and the MOORA method to prioritize medical training programs based on the improvement of the diagnosis and treatment of Marfan Syndrome.Results: The analysis revealed that insufficient knowledge and incomplete clinical evaluations are the main gaps. Priority training programs included the advanced course in clinical genetics and the training program in echocardiography, noted for their direct capacity to improve clinical outcomes.Conclusions: Medical education in genetics and echocardiography must be prioritized to effectively address Marfan Syndrome. The implementation of these programs constitutes the support to close the identified gaps. Thus, they significantly improve early diagnosis and management of complications, promoting interdisciplinary collaboration in patient care.

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Abnormal aortic hemodynamics are associated with risk factors for aortic complications in patients with marfan syndrome

Cited by 2 publications

References 30 publications

Hereditary Thoracic Aortic Diseases

Hereditary Thoracic Aortic Diseases

Evaluation and Prioritization of Training Programs for the Management of Marfan Syndrome

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