Related Experiment Video
Updated: Sep 12, 2026
Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System
Published on: May 5, 2018
Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early
M K Baig1, J H Goldman, A L Caforio
1Department of Cardiological Sciences, St. George's Hospital Medical School, London, England, United Kingdom. baigk@sghms.ac.uk
Insights
Early signs of dilated cardiomyopathy (DCM) are detectable in asymptomatic relatives using noninvasive tests. Nearly a third show abnormalities, with many progressing to symptomatic DCM, highlighting the need for early identification and intervention.
Area of Science:
- Cardiology
- Genetics
- Preventive Medicine
Background:
- Dilated cardiomyopathy (DCM) is often diagnosed late, presenting with severe heart failure or sudden death.
- DCM is increasingly recognized as a familial condition with autosomal dominant inheritance.
- Identifying early-stage familial DCM is crucial for improved patient management and understanding disease pathogenesis.
Purpose of the Study:
- To assess if asymptomatic relatives of DCM patients exhibit early signs of the disease through noninvasive cardiologic evaluations.
- To investigate the prevalence of cardiac dysfunction in relatives of individuals diagnosed with DCM.
- To determine if early cardiac abnormalities in relatives predict future development of symptomatic DCM.
Main Methods:
- Prospective assessment of 408 asymptomatic relatives of 110 DCM patients.
- Utilized medical history, physical examination, two-dimensional echocardiography, electrocardiography, and metabolic exercise testing.
- Hypothesized that subtle cardiac dysfunction in relatives indicates early disease.
Main Results:
- Twenty-nine percent of relatives had echocardiographic abnormalities, including left ventricular enlargement (LVE) in 20% and depressed fractional shortening (dFS) in 6%.
- Relatives with LVE showed increased abnormal metabolic exercise test results and prolonged QRS duration on signal-averaged ECG.
- Over 39 months, 27% of relatives with LVE progressed to symptomatic DCM, with some experiencing sudden death or requiring heart transplantation.
Conclusions:
- Nearly one-third of asymptomatic relatives of DCM patients exhibit echocardiographic abnormalities.
- A significant proportion of relatives with early abnormalities progress to overt DCM, underscoring the disease's familial nature.
- Early identification of at-risk relatives through noninvasive assessments is vital for timely intervention and potentially reducing mortality and complications.
Objectives:
This study sought to determine whether early disease is identifiable in asymptomatic relatives of patients with dilated cardiomyopathy (DCM) by means of noninvasive cardiologic assessment.
Background:
DCM is diagnosed on the basis of advanced heart failure, where cardiac dilation and impaired contractility are recognized in the absence of a recognized etiology (World Health Organization criteria). However, initial clinical presentation may be with severe complications: thromboembolism, arrhythmia or sudden death. DCM has recently been recognized to be familial, with autosomal dominant inheritance in many cases. Familial disease is present in 9% to 20% of patients with DCM, and the ability to identify early disease in such people may improve patient management and aid in the understanding of pathogenesis.
Method:
We prospectively assessed 408 asymptomatic relatives (mean [+/-SD] age 35 +/- 15 years, 193 men) of 110 consecutive patients with DCM by means of history and physical examination, two-dimensional echocardiography, 12-lead and signal-averaged electrocardiography and metabolic exercise testing. We hypothesized that signs of lesser cardiac dysfunction in such relatives might indicate early disease.
Results:
Twenty-nine percent of relatives had abnormal results on the echocardiogram. Twenty percent (n = 45) had left ventricular enlargement (LVE), defined as LV end-diastolic diameter (LVEDD) > or = 112% predicted; 6% (n = 13) had depressed fractional shortening (dFS), defined as FS < or = 25%; and 3% (n = 7) had frank DCM, defined as LV dilation, impaired contractile performance and LVEDD > or = 112% plus FS < or = 25%. Other abnormalities of cardiac function were identified in relatives with LVE or dFS: A greater number with LVE had an abnormal metabolic exercise test result than normal relatives (9% vs. 1%, p < 0.05). Relatives with LVE and abnormal maximal oxygen consumption (VO2max) (defined as VO2max < 80% predicted) had a lower absolute VO2max than normal relatives (30 +/- 8 vs. 43 +/- 9 ml/min per kg, p = 0.01). The QRS duration (at the 25-Hz filter) on the signal-averaged electrocardiogram was prolonged in relatives with LVE (103 +/- 13 ms) and dFS (102 +/- 12 ms) compared with that of normal relatives (97 +/- 12 ms, p < 0.05). Over a mean 39-month follow-up period, 12 relatives with LVE (27%) and none with dFS developed symptomatic DCM (p < 0.0001). One relative with LVE died suddenly, and another underwent heart transplantation.
Conclusions:
Nearly one-third of asymptomatic relatives (29%) have echocardiographic abnormalities, and 27% of such relatives progress to development of overt DCM. Early identification of such people would permit appropriate intervention that might influence the serious complications and mortality of this disease.
Related Concept Videos
01:22Aortic Regurgitation II: Clinical Features and Diagnostic Tests
01:27Myocarditis II: Clinical Features and Diagnostic Tests
01:25Cardiomyopathy I: Introduction and Classification
01:30Cardiomyopathy II: Dilated Cardiomyopathy
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
01:29Cardiomyopathy IV: Restrictive Cardiomyopathy