Details

Autor(en) / Beteiligte

• Landing, B.H.
• Recalde, A.L.
• Lawrence, T.Y.K.
• Shankle, W.R.

Titel

Cardiomyopathy in Childhood and Adult life, With Emphasis on Hypertrophic Cardiomyopathy

Ist Teil von

• Pathology, research and practice, 1994-09, Vol.190 (8), p.737-749

Ort / Verlag

Germany: Elsevier GmbH

Erscheinungsjahr

1994

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• Over 60 entries in the genetic catalog have cardiomyopathy features — 32 autosomaldominant, 35 autosomal recessive and X-linked. Over 40 present in, or can have survival into, adult life. Major clinicopathologic categories of these cardiomyopathic disorders, included: sudden death (13 entities); cardiac conduction disturbance important feature 14; associated myopathy or motor dysfunction 21; storage diseases with cardiac involvement 13; cardiac amyloidosess; and, other categories 23. Genes, abnormality of which can cause hypertrophic cardiomyopathy (HCM),have been identified on chromosomes 1, 14 and 1S, the locus on chromosome 14 involving the B-myosin heavy chain gene, but at least one unidentified locus is known to exist and there is a suggestive locus on chromosome 16, so that HCM is not a single disease but a group of disorders with clinicopatholopic similarities. To investigate these aspects o f HCM in some detail, sixty-six patients with “sharplydemarcated” differential myocardial fiber bundle hypertrophy (DMBH), considered to be of significant degree, from a pediatric autopsy data base of approximately 8,000 cases, were reviewed. Twenty-three of the patients 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 content (three had history of fetal distress), five had ischemic bowel disease, three (two with clinical cerebral palsy and one with Ondine's curse syndrome) had cerebral atrophy and sclerosis and one had extensive more acute encephalomalacia, and a variety o f other major “causes of death” were present. Whether all infants and children with DMBH meeting the criteria used, who do not have congenital heart disease, have dominant hypertrophic cardiomyopathy (HCM) cannot be established by studies of this type, but the “concentration” of a gene or genes for HCM in pediatric autopsy series because the strong effect of HCM on life expectancy is relevant to this possibility. The data raise the question that stillbirth, fetal distress with aspiration of amniotic sac content, ischemic bowel disease and cerebral atrophy and sclerosis may be hitherto underappreciated features of HCM in childhood, and that patients with HCM may be peculiarly liable to die with certain types of septic shock, such as acute meningococcemia. In the material of this study, sudden death was statistically more frequent in females than in males in childhood (p <.029).