Cardiovascular Magnetic Resonance Provides Evidence of Abnormal Myocardial Strain and Primary Cardiomyopathy in Marfan syndrome

Abstract

Objective Marfan syndrome is an autosomal-dominant genetic disorder caused by mutations in the fibrillin-1 gene. The condition is a connective tissue disease that frequently involves the cardiovascular system. The existence of a primary cardiomyopathy in Marfan syndrome, however, is controversial. The aims of this study were to investigate the prevalence of left ventricular dysfunction with both transthoracic echocardiography and cardiovascular magnetic resonance (CMR) in a cohort of Marfan syndrome patients and to investigate patterns of myocardial strain across the cohort. Methods We used an institutional database to identify all patients with a firm diagnosis of Marfan syndrome based on Ghent criteria. Inclusion required left ventricular ejection fraction (LVEF) to have been measured by both CMR and transthoracic echocardiography within 12 months of each other. Normal LVEF was defined as a value of >55% when measured by CMR. Velocity vector imaging was used to measure left ventricular longitudinal strain patterns by application of feature tracking to cine magnetic resonance images. Results were compared with data from 20 age-matched control subjects. Results Sixty-nine Marfan syndrome patients met the inclusion criteria. The mean age was 35.4 ± 15.0 years, and 56.5% were male. The mean LVEF was 59.0% ± 7.0% by CMR and 59.1% ± 5.8% by echo. One-fifth of Marfan syndrome patients (15/69; 21.7%) had reduced function with LVEF ≤55% by CMR, but only 5 of these were identified by echo. Furthermore, echo identified 5 Marfan syndrome patients as having reduced LVEF in the presence of a normal LVEF by CMR. Some Marfan syndrome patients had abnormal longitudinal strain patterns even with LVEF within the reference range. Conclusions These data provide support for a primary cardiomyopathy in some Marfan syndrome patients. Cardiovascular magnetic resonance is more sensitive than echo for identifying cases with mild systolic dysfunction. Strain analysis may be more sensitive than simple LVEF assessment for identifying at-risk individuals.

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

“…No association was found between reduced LV EF and age, gender, indexed aortic dimensions, presence of mitral valve prolapse or valve regurgitation, providing additional evidence that the impairment in ventricular function is inherent to the underlying connective tissue abnormality in MFS. Similar findings were observed in the CMR studies by de Witte et al and by Winther et al, confirming that the reduced LV EF, is mostly mild but might affect a subgroup of patients in a more severe way [ 29 , 30 ]. By extending the detection prowess of conventional echocardiography, studies utilizing strain and strain rate imaging to assess and quantify changes in global and regional contractile function have confirmed the findings obtained from CMR [ 30 , 31 , 32 , 33 ].…”

“…Three subsequent studies using CMR provided additional evidence for myocardial involvement, as demonstrated by the observation of a reduced LV EF in a subgroup of patients [ 28 , 29 , 30 ]. In 2010, Alpendurada et al evaluated 68 patients with MFS without significant valvular disease or prior cardiovascular surgery [ 28 ].…”

Impact of chest wall deformity on cardiac function by CMR and feature-tracking strain analysis in paediatric patients with Marfan syndrome

“…Angtuaco et al did not observe any significant differences in LV longitudinal, radial and circumferential strain in a small cohort of paediatric MFS patients (N = 16) compared to controls, but detected reduced regional strain rates, suggesting that the study might be underpowered [34]. To date, there is only one retrospective CMR study by Winther et al that used featuretracking CMR to characterise adult MFS patients, demonstrating a reduced LV longitudinal strain pattern in some patients [9]. However, the authors could not report on LV circumferential strain due to lacking short-axis cine stack in their CMR protocol [9].…”

“…The well-known cardiovascular manifestations are aortic dilatation and dissection, and heart failure caused by aortic or mitral valve regurgitation [2,4]. However, there are studies suggesting the existence of cardiac dysfunction in the absence of valvular disease [5][6][7][8][9].…”

The Added Value of Cardiac Magnetic Resonance in Muscular Dystrophies

“…These patients can also have subclinical signs of ventricular dysfunction even with preserved left ventricular ejection fraction (LVEF) [26]. Strain analysis can help identify early regional dysfunction [29] (Fig. 2).…”