Hirschsprung disease polydactyly heart disease
Overview
A rare disorder characterized by Hirschsprung disease, extra little finger, extra big toe and a heart defect
Symptoms
* Ventricular septal defect * Extra little finger * Extra big toe * Hirschsprung disease * Constipation * Distended abdomen
Causes
In neonates with VSD, the ventricular septum fails to close completely by the eighth week of gestation, as it would normally. VSD occurs in some neonates with fetal alcohol syndrome, but a causal relationship hasn’t been established. Although most children with congenital heart defects are otherwise normal, in some, VSD coexists with additional birth defects, especially Down syndrome and other autosomal trisomies, renal anomalies, and such cardiac defects as patent ductus arteriosus and coarctation of the aorta. VSDs are located in the membranous or muscular portion of the ventricular septum and vary in size. Some defects close spontaneously; in other defects, the entire septum is absent, creating a single ventricle. VSD isn’t readily apparent at birth, because right and left ventricular pressures are approximately equal, so blood doesn’t shunt through the defect. As the pulmonary vasculature gradually relaxes, 4 to 8 weeks after birth, right ventricular pressure decreases, allowing blood to shunt from the left to the right ventricle. Less than 1% of neonates are born with VSD. In 80% to 90% of neonates who are born with this disorder, the hole is small and will usually close spontaneously. In the remaining 10% to 20% of neonates, surgery is needed to close the hole.
Treatment
In mild cases, no treatment is needed, although the infant should be closely followed to make sure that the hole closes properly as he grows. Large defects usually require early surgical correction before heart failure and irreversible pulmonary vascular disease develop. For small defects, surgery consists of simple suture closure. Moderate to large defects require insertion of a patch graft, using cardiopulmonary bypass. In patients with heart failure, digoxin and diuretics may be prescribed to control symptoms. In patients who develop increased pulmonary resistance and irreversible pulmonary vascular changes that produce a reversible right-to-left shunt (Eisenmenger’s syndrome), a heart-lung transplant may be required. If the child has other defects and will benefit from delaying surgery, pulmonary artery banding normalizes pressures and flow distal to the band and prevents pulmonary vascular disease, allowing postponement of surgery. (Pulmonary artery banding is done only when the child has other complications.) A rare complication of VSD repair is complete heart block from interference with the bundle of His during surgery. (Heart block may require temporary or permanent pacemaker implantation.) Before surgery, treatment consists of: - digoxin, sodium restriction, and diuretics to prevent heart failure - careful monitoring by physical examination, X-ray, and ECG to detect increased pulmonary hypertension, which indicates a need for early surgery - measures to prevent infection (prophylactic antibiotics, for example, to prevent infective endocarditis). Generally, postoperative treatment includes a brief period of mechanical ventilation. The patient will need analgesics and may also require diuretics to increase urine output, continuous infusions of nitroprusside or adrenergic agents to regulate blood pressure and cardiac output and, in rare cases, a temporary pacemaker.