Nursing Care of Infants and Children With Congenital Heart Disease and Associated Genetic Conditions

Lauren T. Cobert

Disclosures

Pediatr Nurs. 2019;45(2):75-85. 

In This Article

Vacterl Association

Etiology/Genetics

VATER association is a sporadic, non-random association of congenital anomalies that includes Vertebral defects, Anal atresia, Tracheoesophageal fistula, Esophageal atresia, and Renal dysplasia (Quan & Smith, 1973). The definition was later expanded to include Cardiac defects and Limb/radial defects, termed VACTERL association (Nora & Nora, 1975; Temtamy & Miller, 1974). Hydrocephalus has also been added to the acronym (VACTERL-H) (Evans, Stranc, Kaplan, & Hunter, 1989). The etiology is unclear, and 90% of cases appear to be sporadic (Jones et al., 2013). The estimated incidence rate is 1.6 in 10,000 live births (Chen, 2017). VACTERL appears to be more common in children with Fanconi anemia and in children born to mothers with diabetes (Stevenson & Hunter, 2013). Between 5% to 33% of patients with Fanconi anemia have VACTERL (Alter & Giri, 2016; Alter & Rosenberg, 2013). Signs and symptoms of Fanconi anemia include skin pigmentation abnormalities, delayed growth, and microcephaly (Jones et al., 2013).

There is strong evidence that VACTERL association is heterogenous. Several signaling pathways and gene families have been implicated in VACTERL, including the Sonic Hedgehog signaling pathway and the HOX gene clusters (Reutter & Ludwig, 2013). A few reports have described an in creased prevalence of component features among first-degree relatives of VACTERL patients (Bartels et al., 2012; Solomon, Pineda-Alvarez, Raam, & Cummings, 2010).

Clinical Features

Vertebral anomalies, often accompanied by rib anomalies, are present in 60% to 95% of patients with VACTERL association (Chen et al., 2016). Vertebral defects have a wide array of presentation, including scoliosis, butterfly vertebrae, absent vertebrae, vertebral fusions, tethered spinal cord, and sacral agenesis/dysgenesis (Solomon et al., 2014). Of VACTERL patients, 55% to 90% have anal atresia with or without fistula (Solomon, 2011). Other anorectal malformations are also seen, such as imperforate anus, as well as accompanying genitourinary anomalies, including hypospadias, cryptorchidism, cloacal malformations, and hydrocolpos (Solomon et al., 2014). Cardiac defects appear in 40% to 80% of children with VACTERL (Solomon, 2011). The most common congenital heart defects seen with VACTERL are atrial septal defects, ventricular septal defects, tetralogy of Fallot, transposition of the great arteries, and patent ductus arteriosus (OMIM, n.d.). Tracheoesophageal fistula (TEF) with or without esophageal atresia is also very common (OMIM, n.d.). Structural renal anomalies include renal agenesis, cystic or dysplastic kidneys, duplicated collecting system, horseshoe kidney, renal atrophy or hypoplasia, ectopic kidney, and ureteral/urethral anomalies (Chen, 2017; Cunningham et al., 2014). Non-structural renal problems may also occur, specifically vesicoureteral reflux and hydronephrosis (Cunningham et al., 2014). Limb defects include radial dysplasia or aplasia, hand deviation, preaxial polydactyl, syndactyl, and rudimentary or absent thumb (Kaplan & Hudgins, 2008). Single umbilical artery is also a common finding (Jones et al., 2013). Most children with VACTERL do not have dysmorphic facial features, growth deficiencies, or neurocognitive impairments (Kaplan & Hudgins, 2008). Phenotypic features of VACTERL are displayed in Figure 2.

Figure 2.

Phenotypic Features of VACTERL Association

Neurologic examination should include assessment of reflexes, muscle tone, and tactile stimulation (Solomon et al., 2014). Children with VACTERL association may complain of neck and back pain, and physical assessment of the spine may reveal scoliosis, kyphosis, or lordosis (Solomon et al., 2014). Anal atresia and imperforate anus will be recognized in the immediate postnatal period by meconium ileus or by the inability to insert a rectal temperature probe, but anorectal stenosis may present later with signs of bowel obstruction (Solomon, 2011). TEF may present with signs of inability to pass a nasogastric tube, dysphagia, choking, and reflux (Jones et al., 2013). TEF may also be recognized by an absent gastric bubble on X-ray (England, Eradi, Murthi, & Sutcliffe, 2017). Renal anomalies may not be apparent until imaging is done, but signs include nephrolithiasis, urinary tract infections, and declining renal function (Cunningham et al., 2014).

Diagnosis

No definitive diagnostic test is available for VACTERL, so diagnosis is exclusionary and based on the presence of clinical features (Solomon, 2011). Criteria for diagnosis vary among clinicians, but generally the diagnosis is made if three or more defects are present (Chen, 2017; OMIM, n.d.; Solomon et al., 2012). Prenatal ultrasound may detect renal malformations, TEF, cardiac defects, and single umbilical artery (Debost-Legrand et al., 2015), which should prompt testing via CMA (Solomon et al., 2012). Chromosome breakage testing should be considered in patients with suspected Fanconi anemia, which has a primarily autosomal recessive pattern of inheritance and a 25% recurrence risk (Alter & Rosenberg, 2013).

A full workup for VACTERL association may include radiographs of the chest, limbs, abdomen, vertebral column, sacrum, and pelvis; cranial ultrasound; spinal ultrasound, MRI, or CT scan; echocardiogram; abdominal and renal ultrasounds; and voiding cystourethrogram (Cunningham et al., 2013, 2014; England et al., 2017; Oral et al., 2012; Solomon et al., 2014).

Management

Children with VACTERL association require care from pediatric subspecialists in genetics, cardiology, orthopedics, neurosurgery, general surgery, plastic surgery, gastroenterology, and urology. The immediate postnatal period will be centered on surgical correction of life-threatening congenital defects (i.e., TEF, structural cardiac defects, and imperforate anus/anal atresia). Special considerations must be taken for operative procedures (OrphanAnesthesia, 2014). Surgery for anal atresia will require a staged repair with a diverting colostomy until a pull-through procedure can be done. Other sequalae of VACTERL association will require lifelong management. Depending on the defect and severity, limb and spinal problems may either be managed medically or require surgical correction. Dysphagia, gastroesophageal reflux, tracheomalacia, recurrent respiratory infections, nephrolithiasis, urinary tract infections, and renal scarring are common long-term issues (Raam, Pineda-Alvarez, Hadley, & Solomon, 2011). Constipation, incontinence, and functional stooling problems can lead to hospitalizations for complications and poor quality of life due to social isolation (Raam et al., 2011). Bowel problems should ideally be managed at a specialty clinic that cares for children with anorectal continence issues. Although most children with VACTERL association are of normal intelligence, some may require a Section 504 plan for school accommodations.

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