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What is the cause of critical congenital heart disease?

Published in Congenital Heart Defects 2 mins read

Critical congenital heart disease (CCHD) has multiple potential causes, including genetic factors, chromosomal abnormalities, and maternal health issues during pregnancy.

Understanding the Causes of CCHD

CCHD is a complex condition, and often the exact cause remains unknown. However, several factors are known to increase the risk of a baby being born with CCHD:

  • Genetics: CCHD can be linked to genetic mutations or inherited conditions.
  • Abnormal Chromosomes: Problems with the number or structure of chromosomes can lead to CCHD. The references specifically note "[a]bnormal chromosomes" as a contributing factor.
  • Maternal Illness During Pregnancy: Certain maternal health conditions during pregnancy can increase the risk of CCHD in the baby:
    • Diabetes: Uncontrolled diabetes in the mother can affect fetal development.
    • Phenylketonuria (PKU): This blood disorder in the mother needs to be carefully managed during pregnancy. The references specifically note "phenylketonuria (a blood disorder)."
    • Drug Use: Maternal drug use during pregnancy is a known risk factor. The references specifically note "drug use."
    • Viral Infection: Certain viral infections in the mother can impact fetal heart development. The references specifically note "viral infection."

Factors Contributing to CCHD

Here's a breakdown in table form:

Cause Description
Genetics Inherited genetic mutations.
Chromosomal Issues Abnormal number or structure of chromosomes.
Maternal Diabetes Uncontrolled diabetes during pregnancy.
Maternal Phenylketonuria Unmanaged PKU during pregnancy.
Maternal Drug Use Use of illicit or certain prescription drugs during pregnancy.
Maternal Viral Infections Certain viral infections contracted during pregnancy.

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