Heart imaging marker may help identify early heart muscle disease in children with Marfan syndrome

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Children with Marfan syndrome are closely monitored for problems affecting the heart and aorta, but growing evidence suggests that the condition can also directly affect the heart muscle itself. New research from investigators, led by Dr. Tam T. Doan, member of Texas Children's Research Institute (TCRI) at Texas Children’s Hospital and Baylor College of Medicine has identified an important imaging marker that may help clinicians recognize early signs of heart muscle dysfunction before more severe complications develop. 

Published in the Journal of the American Society of Echocardiography, the study found that a structural abnormality known as mitral annular disjunction (MAD) is associated with a larger heart chamber size and reduced pumping function in children with Marfan syndrome. 

Marfan syndrome is an inherited connective tissue disorder caused by variants in the FBN1 gene. Recent studies have shown that some patients also develop a form of cardiomyopathy or heart muscle disease.

Researchers have become increasingly interested in MAD, a condition in which there is an abnormal separation between the mitral valve and the underlying heart muscle. Previous studies have linked MAD to abnormal heart rhythms and adverse cardiovascular outcomes in patients with Marfan syndrome, but its relationship to cardiomyopathy in children remained unclear. 

To investigate this question, Dr. Tam, Assistant Professor in the Department of Pediatrics-Cardiology at Baylor, and colleagues reviewed echocardiograms from 152 children and adolescents with Marfan syndrome. They evaluated heart size, pumping function and the presence of MAD, while carefully accounting for the effects of mitral and aortic valve leakage that can influence heart measurements. 

The researchers found that MAD was common, occurring in 61% of patients. More importantly, children with MAD consistently demonstrated features associated with early cardiomyopathy. Compared with patients who did not have MAD, they had larger left ventricular volumes and lower left ventricular ejection fraction, a key measure of how effectively the heart pumps blood.

The findings suggest that MAD may serve as an important marker of an underlying condition affecting the heart muscle itself and it may offer unique information about cardiovascular risk in children with Marfan syndrome. 

Because echocardiography is already routinely performed in patients with Marfan syndrome, assessing for MAD could provide clinicians with an additional tool for identifying children who may require closer surveillance. Early recognition of a developing cardiomyopathy phenotype could help guide monitoring strategies and improve long-term management. 

The study adds to growing evidence that cardiomyopathy is an intrinsic feature of Marfan syndrome in some patients. Future studies will be needed to determine whether MAD predicts progressive heart muscle dysfunction.

Together, the findings highlight the expanding role of advanced cardiac imaging in understanding Marfan syndrome and suggest that a subtle structural abnormality visible on routine echocardiograms may offer important clues about heart health in affected children.

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Other contributors to this work include Khanh-Linh K. Doan, Dr. Justin Weigand, Dr. Sara Stephens, Krista Harris, Claudia Lara, Dr. Anitha Parthiban, Dr. Ricardo Pignatelli, and Dr. Shaine A. Morris. The authors are affiliated with one or more of the following institutions: Baylor College of Medicine and Texas Children’s Hospital.

This work was supported by the Graeme McDaniel Foundation, the National Institutes of Health, and the Southern Star Medical Research Institute.