51. Main forms of congenital malformations

Question 1

what are congenital malformations?

Answer 1

defined as structural or functional anomalies (metabolic disorders) that occur during intrauterine life and can be identified prenatally, at birth, or may only be detected later in infancy.

Question 2

Causes and risk factors for congenital malformations

Answer 2

genetic factors, socioeconomic and demographic factors, environmental factors, infections, maternal nutrition status.

Question 3

Cardiovascular malformations

Answer 3

1. Right-to-left shunt (early cyanosis)
   Truncus arteriosus
   Transposition of the great arteries (TGA)
   Tricuspid atresia
   Tetralogy of Fallot
   Total anomalous pulmonary venous return
2. Left-to-right shunt (non-cyanotic at birth; Eisenmenger syn. years later if uncorrected)
   Atrial septal defects (ASD)
   Ventricular septal defects (VSD)
   Patent ductus arteriosus
   Coarctation of the aorta
3. Ebstein anomaly
4. Supravalvular aortic stenosis
5. Bicuspid aortic valve
6. Mitral valve prolapse (MVP)

Question 4

CNS malformations

Answer 4

• Neural tube defects (NTDs)
   Spina bifida occulta
   Meningocele
   Myelomeningocele
   Anencephaly (rostral neuropore)
• Holoprosencephaly
• Chiari I malformation, Chiari II malformation
• Dandy-walker malformation
• Syringomyelia

Question 5

GI Malformations

Answer 5

-Ventral wall defects
 Gastroschisis
 Omphalocele
-Tracheoesophageal anomalies: esophageal atresia, tracheoesophageal fistula
-Intestinal atresia: duodenal atresia, jejunal and ileal atresia
-Hypertrophic pyloric stenosis
-Annular pancreas
-Pancreas divisum
-Anal atresia

Question 6

Renal malformation

Answer 6

• Horseshoe kidney
• Unilateral renal agenesis
• Multicystic dysplastic kidney
• Posterior urethral valve