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Aortic dilation in pediatric patients

  • Original Article
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European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

Aortic dilation at the level of the aortic root can be caused by a variety of congenital or acquired conditions that lead to weakening of the aortic wall. In this retrospective study, we sought to determine the frequency of different associated diagnoses from children with aortic dilation seen at a single institution. A total of 377 children (68 % male) met study inclusion criteria. Patients were classified based on the suspected or confirmed associated diagnosis in one of the following categories: congenital heart disease (241/377, 64 %), chromosomal (34/377, 9 %), Marfan syndrome (26/377, 7 %), other genetic and non-genetic (22/377, 6 %), Loeys-Dietz syndrome (6/377, 2 %), and unknown (48/377, 13 %). Bicuspid aortic valve was by far the most prevalent congenital heart defect (206/241, 85 %), while Turner syndrome was the most frequent chromosomal abnormality (12/34, 35 %). Patients with Marfan syndrome were more likely to have severe dilation of the ascending aorta (p = 0.002) and to require aortic root replacement surgery (p < 0.001) compared to those in other diagnosis categories.

Conclusion: The differential diagnosis of aortic dilation is broad and requires a careful assessment of cardiac anatomy. Evaluation by a clinical geneticist in this setting should be strongly considered given the high frequency of associated genetic conditions.

What is Known:

• Aortic dilation is frequent in bicuspid aortic valve and other congenital heart defects.

• Aortic dilation can be seen in several connective tissue disorders. Limited information is available in regard to the differential diagnosis of aortic dilation in children.

What is New:

• In patients with aortic dilation concurrent congenital heart disease is frequently diagnosed.

• Almost 18 % of cases in the present study had a defined presumptive or confirmed genetic diagnosis. We suggest considering a genetics evaluation in the setting of aortic dilation.

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Abbreviations

AoD:

Aortic dilation

ASD:

Atrial septal defect

BAV:

Bicuspid aortic valve

CHD:

Congenital heart defect

EDS:

Ehlers-Danlos syndrome

LDS:

Loeys-Dietz syndrome

MFS:

Marfan syndrome

VSD:

Ventricular septal TOF

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Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

For this type of study, formal consent is not required.

Authors’ contributions

Dr Yuri Zarate conceptualized and designed the study, contributed to data collection and analysis, drafted the initial manuscript, and approved the final manuscript as submitted. Dr Elizabeth Sellars contributed to data collection and analysis, reviewed and revised the manuscript, and approved the final manuscript as submitted. Mrs Tiffany Lepard contributed to data collection and analysis, reviewed and revised the manuscript, and approved the final manuscript as submitted. Dr Waldemar Carlo contributed to the interpretation of clinical data, critically reviewed the manuscript, and approved the final manuscript as submitted. Dr Xinyu Tang contributed to the statistical analysis and interpretation of clinical data, reviewed and revised the manuscript, and approved the final manuscript as submitted. Dr R. Thomas Collins II contributed to data analysis and interpretation of clinical data, reviewed and revised the manuscript, and approved the final manuscript as submitted.

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Authors and Affiliations

  1. Section of Genetics and Metabolism, Department of Pediatrics, The University of Arkansas for Medical Sciences, Little Rock, AR, USA

    Yuri A. Zarate, Elizabeth Sellars & Tiffany Lepard

  2. Division of Pediatric Cardiology, The University of Alabama at Birmingham, Birmingham, AL, USA

    Waldemar F. Carlo

  3. Biostatics Program, Department of Pediatrics, The University of Arkansas for Medical Sciences, Little Rock, AR, USA

    Xinyu Tang

  4. Divisions of Cardiology, Department of Pediatrics, The University of Arkansas for Medical Sciences, Little Rock, AR, USA

    R. Thomas Collins II

  5. Department of Internal Medicine, The University of Arkansas for Medical Sciences, Little Rock, AR, USA

    R. Thomas Collins II

  6. Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children’s Hospital, 1 Children’s Way; Slot 512-22, Little Rock, AR, 72202, USA

    Yuri A. Zarate

Authors
  1. Yuri A. Zarate
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  2. Elizabeth Sellars
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  3. Tiffany Lepard
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  4. Waldemar F. Carlo
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  5. Xinyu Tang
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  6. R. Thomas Collins II
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Corresponding author

Correspondence to Yuri A. Zarate.

Additional information

Communicated by Jaan Toelen

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Zarate, Y.A., Sellars, E., Lepard, T. et al. Aortic dilation in pediatric patients. Eur J Pediatr 174, 1585–1592 (2015). https://doi.org/10.1007/s00431-015-2575-8

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  • DOI: https://doi.org/10.1007/s00431-015-2575-8

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