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Neonatal marfan syndrome with hiatus hernia and intrathoracic stomach

Journal of Perinatology volume 33, pages 652–653 (2013)Cite this article

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The patient has neonatal Marfan syndrome (nMS), presenting with an intrathoracic stomach. Marfan syndrome is an autosomal dominant connective tissue disorder, which rarely presents in the neonatal period.1 It is caused by mutations in the FBN1 gene located on chromosome 15q21.1, which encodes the gene for fibrillin 1 glycoprotein, which is vital for normal elasticity or connective tissues and homeostasis of elastic tissues.1, 2 The criteria to diagnosis nMS are not well delineated, but nMS describes any child diagnosed with Marfan syndrome before the age of 1 year. Characteristic features include ‘aged’ facial appearance, micrognathia, pulmonary emphysema, megalocornea, crumpled ears and iridodonesis (eye movement caused by lens subluxation).1 Intrathoracic stomach and paraesophageal hernia are uncommon but well-described features of nMS.2, 3, 4, 5 In fact, three features correlate with increased mortality in nMS—diaphragmatic hernia, valvar insufficiency and mutations in exon 25-26 of the FBN1 gene.6 nMS with valvar insufficiency has a mortality of 82% before the age of 1 year.6 Hiatus hernia, paraesophageal hernia and intrathoracic stomach have all been reported in nMS and are thought to be due to the abnormality of gastric ligaments and diaphragm due to the fibrillin 1 mutation.2 Hiatus hernia with intrathoracic stomach requires that there must be lax gastrohepatic, gastrophrenic, gastrolienal and gastrocolic ligaments and a large esophageal hiatus.4 nMS can be confused with Beal syndrome or congenital contractural arachnodactyly, which does not have ocular abnormalities and, in which heart disease is uncommon, seen in only 15% of patients.1 Beal syndrome is caused by mutations in the fibrillin 2 gene on chromosome 5q23-31. Connective tissues disorder should be suspected in neonatal hiatus hernia and has also been described in Ehlers Danlos syndrome and cutis laxa.3 However, in this patient the correct diagnosis was suspected because of the family history.

Expeditious surgical repair of the hiatus hernia and intrathoracic stomach or paraesophageal hernia should be undertaken to prevent complex volvulus, obstruction and strangulation.4 Break-down or dehiscence of the repair with recurrent hiatus hernia can occured,1 as has been described in other surgery in patients with Marfan syndrome.7

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Authors and Affiliations

  1. Mallinckrodt Institute of Radiology, St Louis Children’s Hospital, 510 South Kingshighway Blvd, St Louis, MO, USA

    T E Herman & M J Siegel

  2. Department of Pediatrics, Division of Neonatology, St. Louis Children’s Hospital, Washington University School of Medicine, St Louis, MO, USA

    A Mathur & A Vachharajani

Authors
  1. T E Herman
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  2. M J Siegel
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  3. A Mathur
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  4. A Vachharajani
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Correspondence to T E Herman.

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Herman, T., Siegel, M., Mathur, A. et al. Neonatal marfan syndrome with hiatus hernia and intrathoracic stomach. J Perinatol 33, 652–653 (2013). https://doi.org/10.1038/jp.2013.15

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