Phenotypic diversity of patients diagnosed with VACTERL association

Husain, Majid; Dutra‐Clarke, Marina; Lemieux, Bryan; Wencel, Marie; Solomon, Benjamin D.; Kimonis, Virginia

doi:10.1002/ajmg.a.40363

Cited by 8 publications

(14 citation statements)

References 71 publications

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“…In the comparison of the frequencies of component features between our study and three other studies [12,13,17], the percentages of ARM and EA/TEF were similar, most likely because these component features are clearly defined congenital anomalies. This is also reflected in the low percentages of minor VACTERL features for the ARM and EA/TEF components.…”

Section: Discussionsupporting

confidence: 78%

“…GU anomalies were neither considered part of the VACTERL spectrum, nor included in VACTERL-PLUS anomalies when occurring in combination with a renal or anorectal anomaly, as their embryology is partly shared [23]. Several studies reported relatively high frequencies of VACTERL cases with GU anomalies [12,13,23]. Husain et al even proposed to consider another revision of the acronym to include GU anomalies as a component feature of VACTERL [13].…”

Section: Discussionmentioning

confidence: 99%

“…For comparison, we selected the two largest studies that were published thus far, which included 286 and 60 VACTERL cases [12,17]. Additionally, we compared our study results with the most recently published study that included 36 VACTERL cases [13] and with one of the earliest studies including 50 VACTERL cases [3].…”

Section: Comparison With the Literaturementioning

confidence: 99%

“…Both the studies of Botto et al and Solomon et al showed that all VATER/VACTERL component features, except for preaxial limb anomalies, were observed in more than 50% of cases [12,17]. Several other studies have also focused on component features in VACTERL cases, but because of small study populations, the external validity of these study results can be questioned [7,[13][14][15][16]18]. A detailed description of the classification of congenital anomalies that make up the VACTERL components is often missing in literature, which limits the comparison of component feature frequencies among studies [19].…”

Section: Introductionmentioning

confidence: 96%

“…In order to obtain clarity about the phenotypic description of VACTERL, several studies have examined the frequency of the different component features and combinations of component features present among VACTERL cases [7,[12][13][14][15][16][17][18]. Both the studies of Botto et al and Solomon et al showed that all VATER/VACTERL component features, except for preaxial limb anomalies, were observed in more than 50% of cases [12,17].…”

Section: Introductionmentioning

confidence: 99%

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Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study

et al. 2019

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BACKGROUND: The VACTERL association is the non-random occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheo-esophageal, renal, and limb anomalies. Diagnosing VACTERL patients is difficult, as many disorders have multiple features in common with VACTERL. The aims of this study were to clearly outline component features, describe the phenotypic spectrum among the largest group of VACTERL patients thus far reported, and to identify phenotypically similar subtypes. METHODS: A case-only study was performed assessing data on 501 cases recorded with VACTERL in the JRC-EUROCAT central database (birth years: 1980-2015). We differentiated between major and minor VACTERL features and anomalies outside the VACTERL spectrum to create a clear definition of VACTERL. RESULTS: In total, 397 cases (79%) fulfilled our VACTERL diagnostic criteria. The most commonly observed major VACTERL features were anorectal malformations and esophageal atresia/tracheo-esophageal fistula (both occurring in 62% of VACTERL cases), followed by cardiac (57%), renal (51%), vertebral (33%), and limb anomalies (25%), in every possible combination. Three VACTERL subtypes were defined: STRICT-VACTERL, VACTERL-LIKE, and VACTERL-PLUS, based on severity and presence of additional congenital anomalies. CONCLUSION: The clearly defined VACTERL component features and the VACTERL subtypes introduced will improve both clinical practice and etiologic research.

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Section: Discussionsupporting

confidence: 78%

Section: Discussionmentioning

confidence: 99%

Section: Comparison With the Literaturementioning

confidence: 99%

Section: Introductionmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 99%

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Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study

et al. 2019

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Ear anomalies and hearing loss in patients with VACTERL association and the effect of maternal diabetes

Galarreta,

Hoyt,

Forero

et al. 2023

American J of Med Genetics Pt A

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VACTERL association is typically defined as the presence of three components among these birth defects: vertebral anomalies, anal atresia, cardiac anomalies, esophageal atresia/tracheoesophageal fistula (EA/TEF), renal anomalies, and limb defects. There is increasing recognition that VACTERL and other recurrent constellations of embryonic development often overlap clinically and might share pathogenesis. We conducted a comprehensive chart review of a large patient population with VACTERL association from two tertiary care centers in California. We included patients with incomplete VACTERL expression, which we denoted as “partial VACTERL” (pVACTERL). We assessed the occurrence of craniofacial (CF) findings in these two groups and the combined cohort. We collected data on potential risk factors and demographic information such as sex, Hispanic ancestry, pregnancy complications, and maternal age. The study included 409 participants, of whom 263 had VACTERL and 146 pVACTERL. CF abnormalities were found in 17.3% of VACTERL patients and 9.4% of pVACTERL patients. In the VACTERL group, ear anomalies were found in 10.2%, microtia in 5.9%, hearing loss (HL) in 13.90%, and orofacial clefts in 3.1%. In the pVACTERL group, ear anomalies were found in 7.2%, microtia in 5.0%, HL in 9.3%, and orofacial cleft in 2.2%. Maternal diabetes significantly increased the risk for HL in VACTERL (odds ratio [OR]: 3.71, 95% confidence interval [CI]: 1.5–7.3) and pVACTERL patients (OR: 6.7, 95% CI: 1.70–23.4). Poorly controlled maternal diabetes significantly increased the risk for all the outcomes in VACTERL patients including CF anomalies (OR: 4.2, 95% CI: 1.9–9.6), ear anomalies (OR: 4.7, 95% CI: 1.8–11.8), microtia (OR: 5.4, 95% CI: 1.7–16.6), and HL (OR: 8.1, 95% CI: 3.4–19.4). Twin status was significantly associated with the occurrence of microtia (p = 0.038) in VACTERL patients. Occurrence of CF features, particularly ear anomalies, microtia, and HL, might be considered as part of phenotypic diversity of VACTERL association. Diabetes and twinning might appear to play a role in increasing the risk for this phenotype in VACTERL association.

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Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance

Gomes,

Zapata,

Galarreta

et al. 2023

American J of Med Genetics Pt A

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VACTERL association is defined as the nonrandom co‐occurrence of a minimum of three of the following six key components: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo‐Esophageal fistula, Renal anomalies, and Limb abnormalities. Patients presenting with two components may also belong in the same spectrum. Additional components have been associated with VACTERL defects, including single umbilical artery, tethered spinal cord (TSC), and genital malformations. We observed a significant proportion of patients with bladder dysfunction (often called neurogenic bladder in the medical record) when reviewing a cohort of patients with VACTERL defects at our clinical center. Our finding calls attention to bladder dysfunction as an additional VACTERL phenotypic component. The prevalence of bladder dysfunction is greatest in those with genital anomalies, anorectal malformations, sacral dysplasia, renal anomalies, and TSC. We propose that patients with two or more VACTERL malformations be monitored for symptoms of bladder dysfunction if one or more of the identified risk factors are present until the achievement of urinary continence.

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Phenotypic diversity of patients diagnosed with VACTERL association

Cited by 8 publications

References 71 publications

Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study

Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study

Ear anomalies and hearing loss in patients with VACTERL association and the effect of maternal diabetes

Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance

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