Down syndrome echocardiography or ultrasound

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dildar Hussain, MBBS [2]

Overview

The abnormalities that may be associated with Down syndrome on ultrasound include intrauterine growth restriction, mild cerebral ventriculomegaly, choroid plexus cysts, increased nuchal fold thickness,cystic hygromas, echogenic intracardiac foci, congenital heart defects, duodenal atresia (“double-bubble sign”) increased intestinal echogenicity, renal pelvis dilation, shortened humerus and femur, increased iliac wing angle, incurving (clinodactyly) and hypoplasia of the fifth finger, increased space between first and second toes and the two-vessel umbilical cord. There are no echocardiographic findings associated with Down syndrome however 40-60 percent of patients with Down syndrome suffer from congenital heart defects the most common being atrial septal defect, atrioventricular septal defect, ventricular septal defect, and patent ductus arteriosus. The echocardiographic findings in Down syndrome are of the aforementioned underlying congenital heart defects.

Ultrasound

The following abnormalities may be associated with Down syndrome on ultrasound:

Echocardiography

  • To view the Echocardiographic changes of Atrial septal defect click here
  • To view the Echocardiographic changes of Ventricular septal defect click here
  • To view the Echocardiographic changes of Atrioventricular septal defect click here
  • To view the Echocardiographic changes of Patent ductus arteriosus click here

References

  1. Roizen, Nancy J.; Magyar, Caroline I.; Kuschner, Emily S.; Sulkes, Steven B.; Druschel, Charlotte; van Wijngaarden, Edwin; Rodgers, Lisa; Diehl, Alison; Lowry, Richard; Hyman, Susan L. (2014). "A Community Cross-Sectional Survey of Medical Problems in 440 Children with Down Syndrome in New York State". The Journal of Pediatrics. 164 (4): 871–875. doi:10.1016/j.jpeds.2013.11.032. ISSN 0022-3476.
  2. Tubman TR, Shields MD, Craig BG, Mulholland HC, Nevin NC (June 1991). "Congenital heart disease in Down's syndrome: two year prospective early screening study". BMJ. 302 (6790): 1425–7. PMC 1670107. PMID 1829969.
  3. Caro, Milagros; Conde, Diego; Pérez-Riera, Andrés R.; de Almeida, Adail P.; Baranchuk, Adrian (2014). "The electrocardiogram in Down syndrome". Cardiology in the Young. 25 (01): 8–14. doi:10.1017/S1047951114000420. ISSN 1047-9511.

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