EP06.66: Microtia and anotia have strong association with congenital heart diseases and IUGR

Anotia/microtia occur most commonly due to an abnormality in a single gene, which may also cause a genetic syndrome. Several genes play an important role in development of auditory system, but hard evidence for this involvement is available for only some of the genes. Single genes disorders causing anotia/microtia may also cause cardiac anomalies. Such anomalies may be missed in those fetuses where fetal echocardiogram is not done. Postnatally also children with microtia are at significant risk for cardiac abnormalities and many such children required treatment and cardiology follow-up. Given the risk of associated cardiac anomalies, we recommend a fetal echo for all such fetuses and thorough cardiac physical exam for each microtia baby born and the consideration of screening echocardiogram in syndromic children born with microtia. All fetuses with suspected microtia were subjected to fetal echo and a significant association was found between microtia, early growth restriction and cardiac anomalies. In our referral centre, over a period of 18 months a total of 1716 fetuses were subjected to mid-trimester anomaly scan and 2 fetuses were found with anotia/microtia. Both were growth restricted and had hypoplastic left heart syndrome. Chromosome analysis and gene detection including those for aberrations of single genes were performed. One case came out to be Trisomy 18, whereas the other fetus had 22q11 microdeletion. Fetal ears should be examined in second trimester and those with microtia are at significant risk for cardiac abnormalities. Cardiac anomalies may be missed in those who did not receive a fetal echocardiogram. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.