Equivocal and Borderline Myocardial Hypertrophy in Relatives of Patients with Hypertrophic Cardiomyopathy: Possible Implications in Genetics of the Disease

Abstract

To determine the occurrence of familial and sporadic forms of hypertrophic cardiomyopathy (HC) 74 first-degree relatives of 21 patients with proven HC were studied by M-mode and two-dimensional echocardiography. A diagnosis of HC was made in 11 relatives (15%) while it was excluded in 61 of them (82%); 2 subjects (3%) were considered neither affected nor unaffected (borderline left ventricular hypertrophy suggestive of HC). Inspection of pedigrees revealed 38% of familial forms of HC with an autosomal dominant pattern of inheritance in 5/8 families (62%). Furthermore, among those relatives judged unaffected by means of full echocardiographic criteria for HC, an attempt was made to find out whether minor changes of left ventricular geometry were present for their possible implications in genetics of HC (latent or potential forms, low phenotypic expression of the disease). Eleven out of 61 unaffected relatives had a left ventricular wall thickness radius ratio > .50 (equivocal hypertrophy), a value that was higher than two standard deviations of the control group. Assessment of clinical significance of borderline and equivocal hypertrophy in relatives of patients with HC is required for a better understanding of genetic transmission of this disease. In this view the occurrence of sporadic and familial forms of HC might be revisited.

Electrocardiogram Screening for Disorders That Cause Sudden Cardiac Death in Asymptomatic Children: A Meta-analysis

“…Twenty primary studies 28,[32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48][49][50] reported sensitivity and specificity estimates by using ECG to detect LQTS and/or HCM,…”

“…When adding 2 nonrepresentative studies 23,26 for sensitivity analysis, the summary phenotypic prevalence rate decreased to 13 per 100 000 (95% CI: 7-19) with substantial heterogeneity (I 2 = 92%, P , .001). Turning to screening for HCM, Fig 3 illustrates a set of HSROC curves for detection by ECG (10 studies), 28,[32][33][34][35][36][37][38][39][40] ECHO (6 studies), [33][34][35]37,40,41 and ECG/ ECHO (4 studies). [33][34][35]40 Based on the summary HSROC curves, the AUC values were high.…”