Myocardial Function, Heart Failure and Arrhythmia in Marfan Syndrome: A Systematic Literature Review

Demolder, Anthony; Kodolitsch, Yskert Von; Muiño-Mosquera, Laura; Backer, Julie De

doi:10.3390/diagnostics10100751

Cited by 22 publications

(26 citation statements)

References 92 publications

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“…From a pathophysiological point of view, the myocardial dysfunction seen in MFS can be explained by the existence of abnormalities in the underlying connective tissue that results in a stiff extracellular matrix with a weakened elastic recoil [23]. Supporting this hypothesis, a number of studies have con rmed the presence of subclinical diastolic abnormalities in the MFS population.…”

Section: Discussionmentioning

confidence: 98%

Left atrial strain in the assessment of diastolic function: providing new insights into primary myocardial dysfunction in Marfan syndrome

García‐Izquierdo

Forteza

Martín-López

et al. 2021

Int J Cardiovasc Imaging

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Previous studies using conventional echocardiographic measurements have reported subclinical left ventricular (LV) diastolic abnormalities in patients with Marfan syndrome (MFS). Left atrial (LA) strain allows an accurate categorization of LV diastolic dysfunction. We aimed to characterize LV myocardial performance in a cohort of MFS patients using STE-derived measurements (LV and LA strain) along with conventional echocardiographic parameters. We studied 127 adult patients with MFS (no prior cardiac surgery or signi cant valvular regurgitation) and 38 healthy controls. We performed detailed echocardiograms and selected left atrial reservoir strain (LASr) as a surrogate of impaired relaxation. Additionally, we searched for possible determinants of LASr in patients with MFS, with a special focus on the elastic properties of the aorta. In spite of lower E-wave, septal and lateral e' velocities and average E/e' ratio in MFS patients, all participants had normal diastolic function according to current guidelines. MFS patients exhibited reduced LV global longitudinal strain (19.3 ± 2.6 vs 21.6 ± 2.1%, p < 0,001) and reduced LASr (32.9 ± 8.5 vs 43.3 ± 7.8%, p < 0.001) compared to controls. In the MFS cohort, we found weak signi cant (p < 0.05

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Section: Discussionmentioning

confidence: 98%

Left atrial strain in the assessment of diastolic function: providing new insights into primary myocardial dysfunction in Marfan syndrome

García‐Izquierdo

Forteza

Martín-López

et al. 2021

Int J Cardiovasc Imaging

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“…Journal of Experimental Pharmacology 2021: 13 hydralazine had previously been shown to suppress aortic root growth in Fbn1 C1039G/+ mice, 67,147 only hydralazine was able to significantly reduce the ascending aortic growth rate in lactating Fbn1 mgR/mgR mice (on a C57BL/ 6 background). 201 This discrepancy is likely the result of the additional inhibition of protein kinase C by hydralazine (see below).…”

Section: Dovepressmentioning

confidence: 98%

“…6,7 Other cardiovascular manifestations requiring surveillance include mitral valve prolapse (MVP), cardiomyopathy and arrhythmias. 2,[7][8][9][10][11][12][13][14][15] Cardiovascular manifestations are major causes of mortality and morbidity in MFS. In order to minimize the impact of these complications, correct and timely diagnosis of MFS is a key feature in patient management.…”

Section: Marfan Syndromementioning

confidence: 99%

An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome

Deleeuw¹,

Clercq²,

Backer³

et al. 2021

JEP

Self Cite

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Marfan syndrome (MFS) is a heritable connective tissue disorder caused by pathogenic variants in the gene coding for the extracellular matrix protein fibrillin-1. While the disease affects multiple organ systems, the most life-threatening manifestations are aortic aneurysms leading to dissection and rupture. Other cardiovascular complications, including mitral valve prolapse, primary cardiomyopathy, and arrhythmia, also occur more frequently in patients with MFS. The standard medical care relies on cardiovascular imaging at regular intervals, along with pharmacological treatment with β-adrenergic receptor blockers aimed at reducing the aortic growth rate. When aortic dilatation reaches a threshold associated with increased risk of dissection, prophylactic surgical aortic replacement is performed. Although current clinical management has significantly improved the life expectancy of patients with MFS, no cure is available and fatal complications still occur, underscoring the need for new treatment options. In recent years, preclinical studies have identified a number of potentially promising therapeutic targets. Nevertheless, the translation of these results into clinical practice has remained challenging. In this review, we present an overview of the currently available knowledge regarding the underlying pathophysiological processes associated with MFS cardiovascular pathology. We then summarize the treatment options that have been developed based on this knowledge and are currently in different stages of preclinical or clinical development, provide a critical review of the limitations of current studies and highlight potential opportunities for future research.

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“…Moreover, they have a large distribution in connective tissue, both elastic and non-elastic. Microfibrils have an important role in bio-signaling (regulating the transforming growth factor beta (TGFβ)) and mechano-signaling (in assisting local response to hemodynamic changes) [ 56 ].…”

Section: Heritable Thoracic Aortic Diseasementioning

confidence: 99%

Thoracic Aortic Dilation: Implications for Physical Activity and Sport Participation

et al. 2022

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Thoracic aortic dilatation is a progressive condition that results from aging and many pathological conditions (i.e., connective tissue, inflammatory, shear stress disorders, severe valvular heart disease) that induce degenerative changes in the elastic properties, leading to the loss of elasticity and compliance of the aortic wall. Mild aortic root enlargement may be also observed in athletes and is considered as a normal adaptation to regular exercise training. On the other hand, high-intensity physical activity in individuals with a particular genetic substrate, such as those carrying gene variants associated with Marfan syndrome or other inherited aortopathies, can favor an excessive aortic enlargement and trigger an acute aortic dissection. The evaluation of the aortic valve and aortic root diameters, as well as the detection of a disease-causing mutation for inherited aortic disease, should be followed by a tailored decision about sport eligibility. In addition, the risk of aortic complications associated with sport in patients with genetic aortic disease is poorly characterized and is often difficult to stratify for each individual athlete. This review aims to describe the relationship between regular physical activity and aortic dilation, focusing on patients with bicuspid aortic valve and inherited aortic disease, and discuss the implications in terms of aortic disease progression and sport participation.

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Myocardial Function, Heart Failure and Arrhythmia in Marfan Syndrome: A Systematic Literature Review

Cited by 22 publications

References 92 publications

Left atrial strain in the assessment of diastolic function: providing new insights into primary myocardial dysfunction in Marfan syndrome

Left atrial strain in the assessment of diastolic function: providing new insights into primary myocardial dysfunction in Marfan syndrome

An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome

Thoracic Aortic Dilation: Implications for Physical Activity and Sport Participation

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