Evidence-based diagnosis of familial non-X-linked dilated cardiomyopathy. Prevalence, inheritance and characteristics (original) (raw)

Familial dilated cardiomyopathy in the United Kingdom

Heart, 1995

Objectives-To determine the frequency and mode of inheritance of familial dilated cardiomyopathy in the United Kingdom. Background-Two recent prospective studies have suggested that familial forms of dilated cardiomyopathy are common but have been limited by selective screening methods, inadequate diagnostic criteria, and low rates of ascertainment. Methods-Prospective screening study of 236 relatives from 40 families of patients with dilated cardiomyopathy. Screening consisted of clinical examination, 12 lead electrocardiogram, and two-dimensional Doppler echocardiography. Relatives with systemic hypertension and other cardiac diseases were excluded from the study. All echocardiograms were performed by an experienced echocardiographer who was blinded to clinical information. Relatives were classified as having dilated cardiomyopathy, left ventricular enlargement (method of Henry), depressed fractional shortening, or as being normal. Relatives with abnormal investigations underwent further evaluation as appropriate. Results-Twenty five cases of dilated cardiomyopathy were identified and came from 10 (25%) of the 40 families screened. Pedigree analysis was most consistent with autosomal dominant inheritance and variable penetrance (65-95%). Of the remaining apparently healthy relatives, 37 (18%) were found to have left ventricular enlargement and nine (4%) depressed fractional shortening; these values were significantly higher than those observed in 239 healthy controls (24 (10%), P = 0'02 and one (0.4%), P = 0-01, respectively).

Familial dilated cardiomyopathy

Journal of The American College of Cardiology, 1999

This study was performed to evaluate the characteristics, mode of inheritance and etiology of familial dilated cardiomyopathy (FDC).

Guidelines for the Diagnosis and Management of Familial Dilated Cardiomyopathy

Heart, Lung and Circulation, 2011

Dilated cardiomyopathy (DCM) is a myocardial disorder that is a major cause of heart failure and death. Recent data indicate that genetic factors are important in the pathogenesis of DCM and may account for at least one-third of cases of "idiopathic" DCM. Apart from a positive family history, there are no specific clinical manifestations that reliably distinguish familial from non-familial DCM, and phenotypic features may vary between families and within members of a single family. Clinical screening with ECG and echocardiography of all first-degree relatives of index cases with "idiopathic" DCM is strongly recommended to identify familial disease and to determine the number of affected individuals within families. Molecular genetics studies have shown that familial DCM is a genetically-heterogeneous disorder with nearly 40 chromosomal loci and disease genes identified to date. Mutations in the known disease genes occur relatively infrequently however. Although commercial genetic testing for selected disease genes is available, the cost and low yield have limited its widespread use. The development of next-generation sequencing technologies promises to expedite the discovery of new DCM disease genes and help to take genetic testing from the research laboratory into routine clinical practice. Affected individuals should receive standard pharmacological therapy according to the severity of symptoms and signs of heart failure. Asymptomatic family members should undergo periodic echocardiographic screening to detect early signs of disease. The optimal management of asymptomatic individuals with suspected early disease is not yet established.

Review and Metaanalysis of the Frequency of Familial Dilated Cardiomyopathy

The American Journal of Cardiology, 2011

Several studies have investigated the frequency of familial dilated cardiomyopathy (FDC). However, no systematic review and meta-analysis on this topic are available. Therefore, using the PubMed, MEDLINE, Cochrane, and the ISI Web of Science databases, relevant reports published through December 2010 were identified. For the summation of prevalence findings, prevalence point estimates and 95% confidence intervals were computed using the logit transformation formula. An aggregate estimate of clinically confirmed FDC of 23% (95% confidence interval 0.17 to 0.31) was found. However, the prevalence rates reported across these studies varied widely, ranging from 2% to 65%, and the analysis showed very high heterogeneity (Q ‫؍‬ 295, p <0.001, I 2 ‫؍‬ 93%). Meta-regression analysis between logit event rate and year of publication explained 23% of between-study variance (p <0.05). Cumulative meta-analysis confirmed the influence of year of publication on the reported prevalence of FDC among the different studies. However, most of the observed heterogeneity may be explained by the fact that the various studies used different preselected criteria for the diagnosis of FDC. In conclusion, data obtained from trials performed using standardized criteria are needed to better define the true prevalence of FDC.

Prospective Familial Assessment in Dilated Cardiomyopathy

Circulation, 2006

Background— In autoimmune disorders, circulating autoantibodies identify healthy relatives at risk years before clinical presentation. Healthy relatives of patients with dilated cardiomyopathy (DCM) who have echocardiographic changes, including left ventricular enlargement or depressed fractional shortening at baseline, have increased medium-term risk for DCM development. Approximately one third of relatives have serum anti-heart autoantibodies (AHAs) at baseline; we intended to assess their potential role in predicting DCM development. Methods and Results— Baseline evaluation, including electrocardiography, echocardiography, and AHA, was performed in 592 asymptomatic relatives of 169 consecutive DCM patients (291 males and 301 females; mean age 36±16 years). Relatives were classified in accordance with published echocardiographic criteria; those who did not have DCM were followed up (median of 58 months). DCM among relatives was diagnosed by echocardiography at follow-up. Of the 59...