Renal ultrasound of CHD patients demonstrates a spectrum of renal abnormalities. Intrarenal collecting system dilation (arrows) ranging from mild (a) to moderate (b), to severe (c) was observed. (d–f) Cystic dysplastic abnormalities including an isolated cystic lesion in the upper pole of the kidney (d, arrow), multiple cystic lesions throughout the periphery of the kidney parenchyma (e, arrow), and cystic dysplastic kidney (f, arrow) were observed. Other renal abnormalities including horseshoe kidney (g) and duplicated collecting system depicted with renal ultrasound (h) and voiding cystourethrogram (i) were observed. Genetic link between renal birth defects and congenital heart disease: San Agustin JT, Klena N, Granath K, Panigrahy A, Stewart E, Devine W, Strittmatter L, Jonassen JA, Liu X, Lo CW, Pazour GJ - Nature communications (2016). Not altered. CC.
Congenital anomalies may be be caused by genetic factors, environmental factors, or a combination of the two (multifactorial).
Examples of genetic anomalies include:
- Down syndrome
- Turner syndrome
- Klinefelter syndrome
Examples of environmental anomalies include:
- Rubella
- Thalidomide
- Alcohol use during pregnancy
Examples of multifactorial anomalies include:
- Cleft lip
- Cleft palate
- Neural tube defects