PITTSBURGH — Preoperative neurologic and genetic work-ups may detect a previously unsuspected cause of cardiac disease in children about to receive a heart transplant, Dr. Debabrata Ghosh reported in a poster at the annual meeting of the Child Neurology Society.
“The presence of neurologic or genetic diseases should never be an absolute contraindication to heart transplant for these children,” Dr. Ghosh said in an interview. “In our study, all 10 of the children with neurologic or genetic etiologies were alive and well at 4 years' follow-up.”
His retrospective study examined 4-year outcomes in 40 children who underwent 41 heart transplants at a mean age of 9 years. All received pretransplant and posttransplant neurologic evaluations; those with idiopathic cardiomyopathies were evaluated before surgery for possible neurologic, neuromuscular, metabolic, or genetic cardiac etiologies.
Structural heart disease was present in 13 children. Of those with nonstructural congenital heart disease, 23 had cardiomyopathy, and of those, 10 (43%) had a definitive etiology, with neuromuscular and neurometabolic conditions accounting for most causes.
Neuromuscular disease was found in five: Two (twins) had dilated cardiomyopathy secondary to Emery-Dreifuss muscular dystrophy, one had Friedreich's ataxia with dilated cardiomyopathy, one had myofibrillar (desmin) myopathy with hypertrophic cardiomyopathy and arrhythmia, and one had an autosomal recessive form of limb-girdle muscular dystrophy.
Neurometabolic disease was found in two children: One had mitochondrial cytopathy (complex III deficiency), and one had a suspected fatty acid oxidation defect with dilated cardiomyopathy.
The other three children had genetic cardiac disorders, including arrhythmogenic right ventricular dysplasia, X-linked dilated cardiomyopathy, and autosomal dominant cardiomyopathy.
Of the entire group, 93% were alive at 1 year after surgery and 90% were still alive 4 years later, including all 10 children with neurologic or genetic causes of their heart disease, said Dr. Ghosh of the Cleveland Clinic Foundation.