Related Experiment Videos
Sudden death in patients with hypertrophic cardiomyopathy: characterization of 26 patients with functional limitation
Insights
Sudden death can be the first sign of hypertrophic cardiomyopathy, especially in young adults. Physical exertion and abnormal ECGs were common in these cases.
Area of Science:
- Cardiology
- Genetics
- Sudden Cardiac Death
Background:
- Hypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease.
- Sudden death is a known risk in symptomatic HCM patients.
- Sudden death as the initial presentation in asymptomatic or minimally symptomatic HCM poses diagnostic challenges.
Purpose of the Study:
- To evaluate characteristics of HCM patients experiencing sudden death as their first cardiac manifestation.
- To identify risk factors associated with first-time sudden death in HCM.
Main Methods:
- Retrospective analysis of 26 HCM patients whose first cardiac manifestation was sudden death.
- Review of clinical data, including age, sex, physical exertion during events, cardiac catheterization, and electrocardiogram (ECG) findings.
- Assessment of ventricular septum thickness and left ventricular end-diastolic pressure.
Main Results:
- The study included 26 patients (mean age 18 years; 23 < 25 years).
- 13 patients died during or after moderate to severe physical exertion.
- All patients exhibited abnormal ECGs, and 17mm or greater ventricular septal thickening was universal. Elevated left ventricular end-diastolic pressure was noted in 9 patients.
Conclusions:
- Sudden death can be the initial presentation of hypertrophic cardiomyopathy, particularly in children and young adults.
- Physical exertion is a significant trigger for sudden death in this population.
- Distinct ECG abnormalities and significant ventricular septal thickening are key findings in HCM patients presenting with sudden death.
Abstract:
Sudden death is a recognized complication in symptomatic patients with hypertrophic cardiomyopathy. However, its occurrence in patients with no or transient previous cardiac symptoms presents a particularly challenging diagnostic and therapeutic dilemma. Therefore, 26 patients with hypertrophic cardiomyopathy whose death was the first definitive manifestation of cardiac disease were evaluated. Their ages ranged from 8 to 49 years (mean 18) and 23 were less than 25 years of age; 19 were male and 7 female. Of the 26 patients, 13 died during or immediately after moderate or severe physical exertion. Of 12 patients with previous cardiac catheterization, 6 had no or a small left ventricular outflow tract gradient under basal conditions and 6 had an outflow gradient of 50 mm Hg or greater. Left ventricular end-diastolic pressure was elevated in nine patients, and the ventricular septum was moderately to severely thickened (17 mm or more) in all patients. The electrocardiogram was abnormal in all 19 patients studied before death. Thus, sudden death may be the first definitive manifestation of cardiac disease in some patients with hypertrophic cardiomyopathy. Although the effects of patient selection in this study group cannot be excluded, sudden death was common in children and young adults and was often related to physical exertion; each patient showed a distinctly abnormal electrocardiogram and moderate to severe ventricular septal thickening.