Cardiomyopathy in Marfan syndrome

Hetzer, Roland; Siegel, G.; Walter, Eva Maria Delmo

doi:10.1093/ejcts/ezv073

Cited by 51 publications

(37 citation statements)

References 26 publications

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“…Lowering of LV global contractility in patients with MS has been described previously in several studies (4,5). In our study we also found deterioration of LV global contractility and deformation in normal LV dimensions in patients with MS.…”

Section: Discussionsupporting

confidence: 90%

Cardiomyopathy in patients with Marfan syndrome and marfanoid habitus

Лунева¹,

Малев²,

Korshunova³

et al. 2017

Curr Res Cardiol

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MSis one of the most common heritable disorder of connective tissue. In the range of MS complications are aortic aneurism, mitral valve prolapses and myocardial dysfunction (1). MS manifestations caused by mutations of fibrillin-1, a structural component of extracellular matrix, and also violation of the regulation of transforming growth factor-β. A number of studies (2,3) showed that excessive activation of TGF-β signaling pathway is the main reason of the impairment of LV function and aorta pathology in MS. Deterioration of systolic and diastolic function and enlargement of LV dimensions was found in patients with MS regardless the absence of hemodynamic overload due to mitral or aortic regurgitation in presence of mitral valve prolapse or aortic dilatation. The term "Marfan cardiomyopathy" is used to indicate changes in left ventricular function in the absence of significant valvular pathology in MS (4,5). In spite the fact that cardiomyopathy in MS is well studied it is still unknown if there are changes in the cardiac function in patients with similar connective tissue abnormality such as marfanoid habitus. marfanoid habitus includes arachnodactyly, long hands and feet, increased skin stretch, joint hypermobility and changes in the physiology of the pectus (Table 1). METHODS:In the study were included 98 persons -8 patients with Marfan syndrome, 24 with marfanoid habitus and 66 healthy subjects. Echocardiography was performed to all patients. Speckle tracking echocardiography was used to assess the left ventricular deformation indices. Concentrations of transforming growth factor-β1 and -β2 in serum were determined by enzyme-linked immunosorbent assay. RESULTS:Systolic left ventricular function was significantly lower in the Marfan syndrome group; as well global longitudinal left ventricular strain worsening was detected in MS group comparing to control group. In marfanoid habitus subjects, we found significant decrease of the circumferential strain in the interventricular septum and inferior wall. transforming growth factor-β1 and -β2 serum levels were elevated in patients with Marfan syndrome. Elevation of transforming growth factor-β1 was statistically nonsignificant unlike to transforming growth factor-β2 in the marfanoid habitus group. Negative correlations between the serum level of transforming growth factor-β2 and systolic radial strain in the marfanoid habitus group also have been found. CONCLUSION:Worsening of regional myocardial deformation may be the first sign of deterioration of the left ventricular systolic function and the existence of primary cardiomyopathy in asymptomatic marfanoid habitus patients, which could affect their long-term prognosis and may be caused by increased transforming growth factor-β signaling. Key Words: Marfan syndrome; Marfanoid habitus; Cardiomyopathy; Left ventricular systolic function; Myocardial deformation; Transforming growth factor-βMarfanoid features are present in several heritable disorders of connective tissue, mimicking some of the changes of Marfan syndr...

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Section: Discussionsupporting

confidence: 90%

Cardiomyopathy in patients with Marfan syndrome and marfanoid habitus

Лунева¹,

Малев²,

Korshunova³

et al. 2017

Curr Res Cardiol

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“…Furthermore, pediatric patients with CTD will often present substantial additional challenges to surgical repair such as skeletal abnormalities (pectus excavatum and/or severe scoliosis), limited pulmonary reserve, and concomitant need for aortic root intervention or tricuspid annuloplasy. In addition, patients with CTD can disclose limited tolerance to acute correction of MR and the resulting immediate postoperative increase in LV afterload, 8,9 potentially requiring substantial perioperative support with inotropic and afterload-reducing agents. These important issues must be kept in mind at the time of mitral valve intervention, with the goal of expeditiously achieving an effective and durable repair.…”

Section: Discussionmentioning

confidence: 99%

Simplified mitral valve repair in pediatric patients with connective tissue disorders

Ravekes

Arbustini

Jaquiss

et al. 2017

The Journal of Thoracic and Cardiovascular Surgery

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“…In addition, there are several reports on end-stage heart failure necessitating heart transplantation in patients with Marfan syndrome. The known problems of both aortic valve regurgitation due to aortic root dilatation and important mitral valve regurgitation in the setting of valve prolapse are often the cause of this heart failure [54].…”

Section: Heart Failurementioning

confidence: 99%

“…In addition, several reports from independent researchers have been published in recent years indicating a primary intrinsic dysfunction of the myocardium in Marfan syndrome. The reported prevalence of what is now addressed as 'Marfan cardiomyopathy' ranges from 3% to 68% across different series [54,55], depending on the definition and population characteristics. Involvement of both left and right ventricles with systolic and diastolic dysfunction has been described [56][57][58][59][60][61][62].…”

Section: Marfan Cardiomyopathymentioning

confidence: 99%

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

Kodolitsch

Demolder

Girdauskas

et al. 2019

Expert Review of Cardiovascular Therapy

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Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features. Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive-and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction. Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome. ARTICLE HISTORY

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Cardiomyopathy in Marfan syndrome

Abstract: Our finding supports the existence of cardiomyopathy in a subset of patients with MFS. Marfan cardiomyopathy appears to be independent of the type of myocardial protection and duration of ischaemia.

Cited by 51 publications

References 26 publications

Cardiomyopathy in patients with Marfan syndrome and marfanoid habitus

Cardiomyopathy in patients with Marfan syndrome and marfanoid habitus

Simplified mitral valve repair in pediatric patients with connective tissue disorders

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

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