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Evidence of cardiomyopathy associated with Marfan syndrome in children
  1. Justin Weigand1,2,
  2. Sara Stephens-Novy1,2,
  3. Shagun Sachdeva1,2,
  4. Tam T Doan1,2,
  5. Abigail Yasso1,2,
  6. Shaine A Morris1,2
  1. 1Pediatrics, Baylor College of Medicine, Houston, Texas, USA
  2. 2Pediatrics, Texas Children's Hospital, Houston, Texas, USA
  1. Correspondence to Dr Justin Weigand, Pediatrics, Baylor College of Medicine, Houston, Texas, USA; justin.weigand{at}bcm.edu

Abstract

Objective Marfan syndrome (MFS)-associated cardiomyopathy, defined as ventricular dilation and dysfunction unexplained by volume loading, is not well defined in children. This study evaluated ventricular size and function in paediatric MFS using cardiac MRI (cMRI).

Methods This retrospective cohort study examined patients with MFS <19 years old at first cMRI. Left ventricular (LV) ejection fraction (EF) <55% was considered abnormal, as were z-scores >2. Combined mitral and aortic regurgitation indexed to LV stroke volume <20% defined absent/mild volume load. Biventricular volumes and EF on serial cMRI studies were compared with normative paediatric cMRI values, with measures converted to z-scores as appropriate. Longitudinal changes in volumes and EF were evaluated by mixed linear regression. Associations between ventricular, aortic and mitral characteristics were evaluated.

Results 58 patients (60% male) were evaluated. Median age at initial cMRI was 13.6 years (IQR 10.0–15.8 years). Among patients with absent/mild LV volume load at initial cMRI (n=44, 76%), indexed LV end-diastolic volume (EDV) was significantly increased above normative values (median z-score 1.8, IQR 0.6–3.5, p<0.0001) and LVEF was abnormal in 48% (21/44). In the absence of volume loading, mitral valve prolapse (MVP) was associated with larger ventricular volumes and lower LVEF. Among those with serial cMRIs, LVEF and EDV z-scores did not significantly change over a mean follow-up time between cMRI studies of 1.5 years.

Conclusion Ventricular dilation and reduced EF are common in children with MFS and occur with no/mild LV volume load, suggesting intrinsic cardiomyopathy. MVP may be associated with cardiomyopathy.

Data availability statement

Data are available upon reasonable request.

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Data availability statement

Data are available upon reasonable request.

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Footnotes

  • X @tamtdoan

  • Contributors The coauthors listed below contributed in the following ways: SS-N: writing, statistical analysis, reviewing and editing; SS: validation, writing—reviewing and editing; TTD: investigation, writing—reviewing and editing; AY: reviewing, editing; SAM: conceptualisation, methodology, formal analysis, writing—reviewing and editing, visualisation and supervision.

  • Funding Sources of Funding: NHLBI K23HL127266.

  • Competing interests None declared.

  • Patient and public involvement Patients and/or the public were not involved in the design, or conduct, or reporting, or dissemination plans of this research.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.