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Congenital ductus arteriosus aneurysm in association with MYH11 mutation: a case report

Part of: Basic Science

Published online by Cambridge University Press:  09 January 2020

Mohanageetha Ardhanari  and
Sethuraman Swaminathan Open the ORCID record for Sethuraman Swaminathan [Opens in a new window]
Mohanageetha Ardhanari
Affiliation:
Division of Pediatric Cardiology, Department of Pediatrics, Jackson Memorial Hospital, University of Miami, Miller School of Medicine, Miami, FL, USA
Sethuraman Swaminathan*
Affiliation:
Division of Pediatric Cardiology, Department of Pediatrics, Jackson Memorial Hospital, University of Miami, Miller School of Medicine, Miami, FL, USA
*
Author for correspondence: S. Swaminathan, MD, Division of Pediatric Cardiology, Department of Pediatrics, Jackson Memorial Hospital, Miller School of Medicine, University of Miami, 1611 NW 12th Ave, North Wing Rm 109, Miami, FL33136, USA. Tel: +1 305 585 6683; Fax: +1 305 324 6012; E-mail: sswami@miami.edu
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Abstract

Congenital ductus arteriosus aneurysms develop in the third trimester of fetal life, possibly due to abnormal intimal cushion formation or elastin expression in the ductal wall. It is often diagnosed in infants before 2 months of age. Most have a benign course and resolve spontaneously. However, life-threatening complications have been reported. We report a case of large ductal aneurysm diagnosed incidentally in a neonate, in whom there was a novel mutation in the smooth muscle myosin protein gene—MYH11.

Keywords

Ductus arteriosus aneurysmpatent ductus arteriosusconnective tissue disorder
Type
Brief Report
Information
Cardiology in the Young , Volume 30 , Issue 1 , January 2020 , pp. 123 - 125
Copyright
© Cambridge University Press 2020

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References

Dyamenahalli, U, Smallhorn, JF, Geva, T, et al.Isolated ductus arteriosus aneurysm in the fetus and infant: a multi-institutional experience. J Am Coll Cardiol 2000; 36: 262–269.CrossRefGoogle ScholarPubMed
Lund, JT, Hansen, D, Brocks, V, Jensen, MB, Jacobsen, JR. Aneurysm of the ductus arteriosus in the neonate: three case reports with a review of the literature. Pediatr Cardiol 1992; 13: 222–226.CrossRefGoogle ScholarPubMed
Mitchell, RS, Seifert, FC, Miller, DC, Jamieson, SW, Shumway, NE. Aneurysm of the diverticulum of the ductus arteriosus in the adult. Successful surgical treatment in five patients and review of the literature. J Thorac Cardiovasc Surg 1983; 86: 400–408.CrossRefGoogle ScholarPubMed
Jan, S-L, Hwang, B, Fu, Y-C, Chai, J-W, Chi, C-S. Isolated neonatal ductus arteriosus aneurysm. J Am Coll Cardiol 2002; 39: 342–347.CrossRefGoogle ScholarPubMed
Crisfield, RJ. Spontaneous aneurysm of the ductus arteriosus in a patient with Marfan’s syndrome. J Thorac Cardiovasc Surg 1971; 62: 243–247.CrossRefGoogle Scholar
Chang, JP, Chang, CH, Sheih, MJ. Aneurysmal dilatation of patent ductus arteriosus in a case of Ehlers-Danlos syndrome. Ann Thorac Surg 1987; 44: 656–657.CrossRefGoogle Scholar
Logeswaran, T, Friedburg, C, Hofmann, K, et al.Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome. Am J Med Genet A 2017; 173: 959–965.CrossRefGoogle ScholarPubMed
Zhu, L, Vranckx, R, Van Kien, PK, et al.Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet 2006; 38: 343.CrossRefGoogle Scholar
Dong, W, Baldwin, C, Choi, J, et al.Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: results of whole-exome sequencing. Clin Genet 2019; 96: 473–477.CrossRefGoogle ScholarPubMed
Hornberger, LK. Congenital ductus arteriosus aneurysm. J Am Coll Cardiol 2002; 39: 348–350.CrossRefGoogle ScholarPubMed

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