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Hypercontractile cardiac states simulating hypertrophic cardiomyopathy
Insights
Hypertrophic cardiomyopathy (HCM) findings like mitral valve movement are not exclusive to this condition. Some patients show typical HCM signs without the characteristic asymmetric septal hypertrophy, challenging diagnostic specificity.
Area of Science:
- Cardiology
- Genetics
- Pathology
Background:
- Hypertrophic cardiomyopathy (HCM), also known as idiopathic hypertrophic subaortic stenosis (IHSS), is an autosomal dominant myocardial disease.
- It is typically characterized by asymmetric septal hypertrophy and specific physical and echocardiographic findings.
Observation:
- Four patients presented with systolic anterior movement of the mitral valve and typical HCM auscultatory findings.
- Echocardiographic and scintiphotographic studies did not reveal asymmetric septal hypertrophy in these patients.
- Postmortem examination of one patient showed mild concentric left ventricular hypertrophy and normal myocardial architecture.
Findings:
- Systolic anterior movement of the mitral valve and characteristic physical findings are not specific to HCM.
- The observed patients lacked the hallmark asymmetric septal hypertrophy associated with HCM.
Implications:
- Re-evaluation of diagnostic criteria for HCM may be necessary.
- These findings suggest that HCM may present with varied echocardiographic and histological features.
- Further research is needed to understand the full spectrum of HCM presentations and their underlying mechanisms.
Abstract:
Hypertrophic cardiomyopathy (HCM) or idiopathic hypertrophic subaortic stenosis (IHSS) has been defined as an autosomal dominant myocardial disease characterized by specific physical findings, echocardiographic features, asymmetric septal hypertrophy and disordered myocardial architecture. Echocardiographic and scintiphotographic studies failed to reveal evidence of asymmetric septal hypertrophy in four patients with systolic anterior movement of the mitral valve and the typical ausculatory and peripheral pulse abnormalities characteristic of HCM. Postmortem examimination in one patient demonstrated mild concentric left ventricular hypertrophy and a normal arrangement of myocardial muscle fibers. These observations in four patients demonstrate that both systolic anterior movement of the mitral valve and the physical findings characteristic of HCM are not specific for the autosomal dominant myocardial disease characterized by asymmetric septal hypertrophy and abnormal septal histology.
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