CARDIOMYOPATHY IN CHILDHOOD AND ADULT LIFE, WITH EMPHASIS ON HYPERTROPHIC CARDIOMYOPATHY

Over 60 entries in the genetic catalog have cardiomyopathy features - 32 autosomal dominant, 35 autosomal recessive and X-linked. Over 40 pr esent in, or can have survival into, adult life. Major clinicopatholog ic categories of these cardiomyopathic disorders included: sudden deat h (13 entities); cardiac conduction disturbance important feature(14); associated myopathy or motor dysfunction(21); storage diseases with c ardiac involvement(13); cardiac amyloidoses(5); and, other categories( 23). Genes, abnormality of which can cause hypertrophic cardiomyopathy (HCM), have been identified on chromosomes 1, 14 and 25, the locus on chromosome 14 involving the B-myosin heavy chain gene, but at least o ne unidentified locus is known to exist and there is a suggestive locu s on chromosome 16, so that HCM is not a single disease but a group of disorders with clinicopatholopic similarities. To investigate these a spects of HCM in some detail, sixty-six patients with ''sharply demarc ated'' differential myocardial fiber bundle hypertrophy (DMBH), consid ered to be of significant degree, from a pediatric autopsy data base o f approximately 8,000 cases, were reviewed. Twenty-three of the patien ts died suddenly, without antecedent significant cardiac dysfunction, seven had clinical congestive heart failure of varying duration, three were stillborn, six showed evidence of aspiration of amniotic sac con tent (three had history of fetal distress), five had ischemic bowel di sease, three (two with clinical cerebral palsy and one with Ondine's c urse syndrome) had cerebral atrophy and sclerosis and one had extensiv e move acute encephalomalacia, and a variety of other major ''causes o f death'' were present. Whether all infants and children with DMBH mee ting the criteria used, who do not have congenital heart disease, have dominant hypertrophic cardiomyopathy (HCM) cannot be established by s tudies of this type, but the ''concentration'' of a gene or genes for HCM in pediatric autopsy series because the strong effect of HCM on li fe expectancy is relevant to this possibility. The data raise the ques tion that stillbirth, fetal distress with aspiration of amniotic sac c ontent, ischemic bowel disease and cerebral atrophy and sclerosis may be hitherto underappreciated features of HCM in childhood, and that pa tients with HCM may be peculiarly liable to die with certain types of septic shock, such as acute meningococcemia. In the material of this s tudy, sudden death was statistically more frequent in females than in males in childhood (p < .029).