Long-term outcomes of adults with features of VACTERL association

Raam, Manu S.; Pineda-Álvarez, Daniel E.; Hadley, Donald W.; Solomon, Benjamin D.

doi:10.1016/j.ejmg.2010.09.007

Cited by 47 publications

(46 citation statements)

References 44 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Finally, though the suggested work-up is intended for the neonatal period, the approach might also be applied to an individual who is first recognized as having features of VACTERL association at an older age (which is not uncommon). 9 …”

Section: Suggested Diagnostic Approachmentioning

confidence: 99%

See 1 more Smart Citation

An Approach to the Identification of Anomalies and Etiologies in Neonates with Identified or Suspected VACTERL (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula with Esophageal Atresia, Cardiac Anomalies, Renal Anomalies, and Limb Anomalies) Association

Solomon¹,

Baker²,

Bear³

et al. 2014

The Journal of Pediatrics

Self Cite

View full text Add to dashboard Cite

Section: Suggested Diagnostic Approachmentioning

confidence: 99%

“…This can be problematic: missed manifestations may obfuscate the etiological work-up 8 ; delay medical interventions, potentially contributing to higher morbidity and mortality 9 ; result in less informed and effective counseling.…”

mentioning

confidence: 99%

An Approach to the Identification of Anomalies and Etiologies in Neonates with Identified or Suspected VACTERL (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula with Esophageal Atresia, Cardiac Anomalies, Renal Anomalies, and Limb Anomalies) Association

Solomon¹,

Baker²,

Bear³

et al. 2014

The Journal of Pediatrics

Self Cite

View full text Add to dashboard Cite

“…There was a great variety in the reports of the severity of vertebral malformations [9, 12]. A common clinical presentation is scoliosis [13]. AA is reported in 55 to 90% of patients with VACTERL association [7–11].…”

Section: Introductionmentioning

confidence: 99%

“…Cardiac malformations are also common and observed in 40 to 80% of patients [9–11]. They range from life-threatening malformations, which require complicated surgical procedures, to small asymptomatic defects which are discovered incidentally [10, 11, 13]. A persistent ductus arteriosus and foramen ovale should not be registered as a defect in the VACTERL association [1].…”

Section: Introductionmentioning

confidence: 99%

Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature

et al. 2016

View full text Add to dashboard Cite

BackgroundThe vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases. Furthermore, we aimed to collect existing knowledge in the embryopathogenesis and genetics in order to discuss a possible link between the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome.Case presentationOur first case was a white girl delivered by caesarean section at 37 weeks of gestation; our second case was a white girl born at a gestational age of 40 weeks. A co-occurrence of vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome was diagnosed in both cases.We performed a systematic literature search in PubMed ((VACTERL) OR (VATER)) AND ((MRKH) OR (Mayer-Rokitansky-Küster-Hauser) OR (mullerian agenesis) OR (mullerian aplasia) OR (MURCS)) without limitations. A similar search was performed in Embase and the Cochrane library. We added two cases from our local center.All cases (n = 9) presented with anal atresia and renal defect. Vertebral defects were present in eight patients. Rectovestibular fistula was confirmed in seven patients. Along with the uterovaginal agenesis, fallopian tube aplasia appeared in five of nine cases and in two cases ovarian involvement also existed.ConclusionsThe co-occurrence of the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome is extremely rare. This group of patients has unusual phenotypic characteristics. The long-term outcome after treatment of defects is not well reported. A single unifying cause is not known and the etiology probably includes both genetic and non-genetic causes. We stress the importance of future studies to optimized treatment, follow-up, and etiology.

show abstract

“…Dysphagia is a common symptom in patients with VAC-TERL association; however, most patients with dysphagia have been previously treated for tracheoesophageal fistula with surgery (12). Further studies are warranted in patients with VACTERL association in order to identify any possible links between this syndrome, including the presence of a lusorian artery, and the incidence of symptomatic dysphagia lusoria and eventually the subclavian steal phenomenon.…”

Section: Discussionmentioning

confidence: 99%

An Aberrant Subclavian Artery Exhibiting the Partial Steal Phenomenon in a Patient with VACTERL Association

et al. 2014

View full text Add to dashboard Cite

We herein report the case of a 22-year-old Caucasian man with known vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies (VACTERL) association who presented with a headache and vertigo following the sudden and temporary loss of consciousness while attending a concert four days before admission to the hospital. On a physical examination, the following findings were found: a low body height, low-set ears, thoracic scoliosis and a mild holosystolic heart murmur. A neurosonological examination revealed a partial subclavian steal phenomenon. CT angiography of the neck vessels and aortic arch confirmed an anomalous right subclavian artery known as the lusorian artery. Further studies are warranted in patients with VACTERL in order to identify possible links between the prevalence of an aberrant right subclavian artery (lusorian artery) and possible congenital subclavian steal syndrome or dysphagia lusoria. In addition, duplex ultrasound of the carotid and vertebral arteries may be performed as part of screening examinations in patients with congenital syndromes.

show abstract

Long-term outcomes of adults with features of VACTERL association

Cited by 47 publications

References 44 publications

An Approach to the Identification of Anomalies and Etiologies in Neonates with Identified or Suspected VACTERL (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula with Esophageal Atresia, Cardiac Anomalies, Renal Anomalies, and Limb Anomalies) Association

An Approach to the Identification of Anomalies and Etiologies in Neonates with Identified or Suspected VACTERL (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula with Esophageal Atresia, Cardiac Anomalies, Renal Anomalies, and Limb Anomalies) Association

Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature

An Aberrant Subclavian Artery Exhibiting the Partial Steal Phenomenon in a Patient with VACTERL Association

Contact Info

Product

Resources

About