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Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
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VACTERL association
Introduction

VACTERL is an acronym for:

  • V  —  Vertebral anomalies
  • A  —  Anal atresia
  • C  —  Cardiovascular anomalies
  • T  —  Tracheoesophageal fistula
  • E  —  Esophageal atresia
  • R  —  Renal anomalies
  • L  —  Limb anomalies

These anomalies occur together more frequent than would be expected by chance alone (see definition of association). VACTERL can be diagnosed when at least 3 organ systems are involved.

Etiology, pathogenesis

Most cases are sporadic. More frequent in infants of diabetic mothers A common developemental pathogenesis is a defective mesodermal developement (for example a mesodermal septum between the future esophageus and trachea fails to develope). Precise etiology is unknown.

Clinical signs
  • incidence: is approximately 1  –   2: 10 000 live births
  • lesions:
    • anorectal atresia
    • esophageal atresia, tracheoesophageal fistula (and vice versa, 50% of patients with esophageal atresia present with another VACTERL anomaly)
    • various heart defects
    • enal malformatiosn  —  dysplasia, agenesis etc.
    • skeletal anomalies  —  hemivertebrae, congenital scoliosis, caudal regression, rib anomalies
    • limb malformations  —  radial/preaxial anomalies are specific for VACTERL
    • single umbilical artery is extremely common
    • intrauterine growth retardation
    • associated anomalies except for the cardinal defects which constitute the VACTERL are frequent:
      • hydrocephalus (VACTERL-H )
      • laryngeal atresia
      • tracheal agenesis
      • pulmonary agenesis
      • duodenal atresia etc.
  • Prognosis: prognosis is poor because of multiorgan involvement; Potter sequence is a common consequence of renal anomalies

VACTERL has often similar features to sirenomely.

VACTERL has often similar feauters to another associations which belong to the range of mesodermal dysplasias (CHARGE, TACRD etc.)

Synonyms:

VATER association was described in 1973. The association has been expanded to include cardiovascular anomalies among the cardinal features and this constitute the VACTERL acronym used at present.

VACTERL, anorectal atresia (72760)

VACTERL, anorectal atresia (72765)

VACTERL, atresia of the esophagus (72763)

VACTERL, fetus (72767)

Pictures

21-week fetus, VACTERL association; anorectal aresia and rectovesical fistula; hypoplastic urinary blader; single umblicical artery: VACTERL association, Macro, autopsy (72765)

Rectovesical fistula, detail: VACTERL association, Macro, autopsy (72766)

Case study
VACTERL association 1
Marta Ježová
History

This pregnency was terminated because of a congenital heart defect diagnosed prenataly in the fetus. An autoptic examinaton revealed multiple anomalies associated with the heart defect.

Final diagnosis: VACTERL association.

Macroscopic appearance
  • 22-week male fetus
  • heart defect: pulmonary atresia with vetricular septal defect, dextroposition of the dilatated aorta; persisting left superior vena cava draining into the coronary sinus.
  • anorectal atresia
  • esophageal atresia, broad tracheoesophageal fistula
  • laryngeal atresia
  • right thumb hypoplasia
  • single umbilical artery; velamentous insertion of the umbilical cord
  • intestinal malrotation
Pictures

Perineum, imperforate anus: VACTERL association, Macro, autopsy (72760)

Intestinal malrotation, the appendix is seen in the midline, distended rectum proximal to the atresia: VACTERL association, Macro, autopsy (72761)

Abnormal shape of the heart with right ventricular hypertrophy, right lateral displacement of the aorta: VACTERL association, Macro, autopsy (72762)

Esophageal atresia, broad tracheoesophagela fistula: VACTERL association, Macro, autopsy (72763)

Laryngeal atresia (occlusion by cartilage): VACTERL association, Macro, autopsy (72764)

Case study
VACTERL association 2 (with hydrocephalus)
Marta Ježová
History

Ultrasonographic examination in the 2nd trimestr showed multiple congenital malformations including hydrocephalus, abnormal fused vertebrae, ambigous genitalia. Pregnancy was terminated and the VACTERL association was confirmed by fetal autopsy.

Final diagnosis: VACTERL association with hydrocephalus.

Macroscopic appearance
  • 20-week female fetus
  • macrocephaly, low set ears, short neck
  • limb deformities due to oligohydramnion
  • hydrocephalus internus
  • esophageal atresia; tracheoesophageal fistula
  • multicystic dysplasia of the left kidney and agenesis of the right kidney
  • anorectal atresia; a skin appendage in the anal region
  • congenital scoliosis — hemivertebrae and missing ribs, fusion of vertebrae
  • thumb hypoplasia
  • cardiovascular anomaly: right-sided aortic arch, persisting left vena cava superior
  • single umbilical artery
  • agenesis of external genitalia; agenesis of the vagina and urinary bladder; uterus, fallopian tubes and ovaries were normal
Pictures

Macrocephaly, short neck, libm deformities, skin appendage in the anal region: VACTERL association, Macro, autopsy (72767)

Thumb hypoplasia (appendix digitiformis without phalangae): VACTERL association, Macro, autopsy (72768)

Agenesis of external genitalia, absent anus, vaginal and urethral openings: VACTERL association, Macro, autopsy (72769)

Anorectal atresia, bowel distension proximal to atresia: VACTERL association, Macro, autopsy (72770)

Scolisosis, hemivertebrae and missing ribs: VACTERL association, Macro, autopsy (72771)