VACTERL

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 ICD-11 - LD2F.11 VATER association - VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

Introduction

VACTERL/VATER are the acronyms used to describe a multi-system congenital malformation identified in the early 1970's and includes at least three of the following:

  1. Vertebral defects
  2. Anal atresia
  3. Cardiac defects
  4. Tracheo-esophageal fistula
  5. Renal anomalies
  6. Limb abnormalities

There is an additional identified form of VACTERL with hydrocephalus and perhaps several other associations exist.


VACTERL/VATER prevalence and incidence data have been difficult to ascertain due to variable diagnostic criteria. Some reports suggest less than 1-9/100,000 infants, and the annual incidence has been reported to be 1/10,000 to 1/40,000 live births.


Links: vertebra | heart | renal | gastrointestinal tract | limb

Genetic Links: genetic abnormalities | maternal age | Trisomy 21 | Trisomy 18 | Trisomy 13 | Trisomy X | trisomy mosaicism | Monosomy | Fragile X | Williams | Alagille | Philadelphia chromosome | mitochondria | VACTERL | hydatidiform mole | epigenetics | Prenatal Diagnosis | Neonatal Diagnosis | meiosis | mitosis | International Classification of Diseases | genetics


Diagnosis Links: Prenatal Diagnosis | pregnancy test | amniocentesis | chorionic villus sampling | ultrasound | Alpha-Fetoprotein | Pregnancy-associated plasma protein-A | Fetal Blood Sampling | Magnetic Resonance Imaging | Computed Tomography | Non-Invasive Prenatal Testing | Fetal Cells in Maternal Blood | Preimplantation Genetic Screening | Comparative Genomic Hybridization | Genome Sequencing | Neonatal Diagnosis | Category:Prenatal Diagnosis | Fetal Surgery | Classification of Diseases | Category:Neonatal Diagnosis

Some Recent Findings

  • HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum[1] "The VATER/VACTERL association refers to the nonrandom co-occurrence of at least three of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). Patients presenting with two CFs have been termed VATER/VACTERL-like phenotypes. We surveyed the exome for recessive disease variants in three affected sib-pairs. Sib-pair 971 consisted of two brothers with ARM and additional hydronephrosis in one brother. Sib-pair 1098 consisted of two sisters with ARM. In family 1346, the daughter presented with ARM and additional hypoplasia of both small fingers and ankyloses. Her brother presented with unilateral isolated radial hypoplasia. Sib-pairs 971 and 1346 resembled a VATER/VACTERL-like phenotype. We detected a novel maternally inherited missense variant (c.1340G > T) and a rare paternally inherited deletion of the trans-allele in HSPA6 in both siblings of family 1346. HSPA6 belongs to the heat shock protein (HSP) 70 family. Re-sequencing of HSPA6 in 167 patients with VATER/VACTERL and VATER/VACTERL-like phenotypes did not reveal any additional bi-allelic variants. Until now, only TNF-receptor associated protein 1 (TRAP1) had been reported as an autosomal recessive disease-gene for the VATER/VACTERL association. TRAP1 belongs to the heat shock protein 90 family (HSP90). Both Hsp70 and Hsp90 genes have been shown to be important embryonic drivers in the formation of mouse embryonic forelimb tissue. Our results suggest HSPA6 as a new candidate gene in VATER/VACTERL-like phenotypes." OMIM HSPA6
  • A rare case of laryngeal cleft in association with VACTERL and malrotation[2] "We report a rare case of a neonatal girl who presented with coughing and dyspnea immediately after feeds. At birth, she was noted to have an imperforate anus with a posterior fourchette fistula from which she was stooling. Initial imaging with radiography showed a normal bowel gas pattern; however, lumbar vertebral anomalies were noted. An upper GI series was performed and revealed a laryngeal cleft and malrotation. Ultrasound confirmed malrotation with an abnormal SMA-SMV relationship. Since laryngeal cleft is a rare condition and may not be known to most radiologists, its incidence is likely underestimated. It is important to note the association of laryngeal clefts with VACTERL and malrotation. In addition, it is essential not to confuse a laryngeal cleft with a tracheoesophageal fistula since the management differs."


More recent papers  
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More? References | Discussion Page | Journal Searches | 2019 References

Search term: VACTERL | VATER

Older papers  
These papers originally appeared in the Some Recent Findings table, but as that list grew in length have now been shuffled down to this collapsible table.

See also the Discussion Page for other references listed by year and References on this current page.

VACTERL Diagnosis

VACTERL/VATER Diagnostic Methods
Feature Intitial test(s) Notes
Vertebral anomalies X-ray; ultrasound and/or MRI of the spine X-ray may not show subtle spinal anomalies, and will be unable to detect associated anomalies such as tethered cord or syrinx
Anal atresia Physical examination/observation, abdominal ultrasound for genitourinary anomalies Additional testing is typically required to define anatomy, especially if concomitant genitourinary anomalies are present
Cardiac malformations Echocardiogram Other, more precise techniques, such as cardiac CT or MRI may be helpful to further detail anomalies
Tracheo-esophageal fistula Physical examination/observation (contrast studies are rarely required) Patients with VACTERL association but without true TEF may still present with swallowing/breathing anomalies, and clinicians should have a low index of suspicion for confirmatory radiological testing
Renal anomalies Renal ultrasound Further testing, such as a voiding cystouerethrogram, may be required in the presence of renal anomalies or if there is other evidence of issues such as vesicoureteral reflux
Limb anomalies Physical examination, X-ray Important not to overlook, as the presence of limb anomalies often prompts testing for Fanconi anemia
Suggested testing for patients (in addition to a careful physical examination by an experienced clinician) suspected to have VACTERL association. Specific modalities used should be dictated by the risk-benefit ratio for the specific situation.
Table reference [3]    Links: VACTERL | vertebra | heart | renal | limb


Vertebral Defects

Hemi-vertebra noted in lumbo-sacral region of spine (arrow)[4]

VACTERL - vertebra defect

Anal Atresia

Cardiac Defects

Endocardial cushion defect in form of absent crux. (arrow). (Right) Tricuspid regurgitation.[4]

VACTERL - cardiac endocardial cushion defect

Tracheo-Esophageal Fistula

Renal Anomalies

Limb Abnormalities

References

  1. Kause F, Zhang R, Ludwig M, Schmiedeke E, Rissmann A, Thiele H, Altmueller J, Herms S, Hilger AC, Hildebrandt F & Reutter H. (2019). HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Birth Defects Res , , . PMID: 30887706 DOI.
  2. Jesse C, Jonathan S, Jeremy N & June K. (2019). A rare case of laryngeal cleft in association with VACTERL and malrotation. Radiol Case Rep , 14, 315-319. PMID: 30546815 DOI.
  3. Solomon BD. (2011). VACTERL/VATER Association. Orphanet J Rare Dis , 6, 56. PMID: 21846383 DOI.
  4. 4.0 4.1 Gaur NK & Gokhale S. (2018). VACTERL association - Ultrasound findings and autopsy correlation. Indian J Radiol Imaging , 28, 452-455. PMID: 30662209 DOI.


Reviews

Lubinsky M. (2015). The VACTERL Association as a disturbance of cell fate determination. Am. J. Med. Genet. A , 167A, 2582-8. PMID: 26174174 DOI.

Solomon BD. (2011). VACTERL/VATER Association. Orphanet J Rare Dis , 6, 56. PMID: 21846383 DOI.

Articles

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Cite this page: Hill, M.A. (2019, September 22) Embryology VACTERL. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/VACTERL

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© Dr Mark Hill 2019, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G