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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
[Hypertrophic cardiomyopathy--cause of sudden death]
Carmen Grigoriu1, Doina Butcovan, V Astărăstoae
1Disciplina de Medicină Legală, Facultatea de Medicină, Universitatea de Medicină şi Farmacie Gr.T. Popa Iaşi.
Insights
Hypertrophic cardiomyopathy (CMH) is a heart muscle disease characterized by abnormal thickening. This case highlights CMH diagnosis in sudden cardiac death, confirmed both before and after death.
Area of Science:
- Cardiology
- Pathology
Background:
- Hypertrophic cardiomyopathy (CMH) is defined by myocardial hypertrophy unrelated to other cardiac or systemic diseases.
- Histological hallmarks include myocyte disarray and fibrosis, particularly in thickened areas.
Observation:
- The study presents a case of sudden cardiac death in a 45-year-old male.
- The diagnosis of hypertrophic cardiomyopathy was established during life and confirmed post-mortem.
Findings:
- The bizarre histological appearance of the myocardium, including myocyte and bundle malalignment, is characteristic of CMH.
- Maximal disarray is observed in areas of significant wall thickening.
- Diagnostic recognition is aided by transverse, short-axis views of the ventricles at multiple levels.
Implications:
- This case underscores the importance of recognizing hypertrophic cardiomyopathy as a cause of sudden cardiac death.
- Intra vitam diagnosis and post-mortem confirmation are crucial for understanding the disease progression.
- Detailed histological examination in specific planes is essential for accurate CMH diagnosis.
Abstract:
Hypertrophic cardiomyopathy (CMH) is defined by the absence of left ventricular dilatation and the presence of myocardial hypertrophy that is not due to another recognised cause of hypertrophy such as systemic hypertension or aortic stenosis. The bizarre histological appearance of the myocardium is the hallmark of CMH. Myocytes and bundles of myocytes are malaligned and fibrosis may be extensive. Disarray is maximal in areas of macroscopic wall thickening. The condition is most easily recognized in a series of transverse, short axis slices across both ventricles. Histological examination of sections taken in this transverse plane at all three levels (high, mid, apical) including septum, anterior, posterior and lateral walls are needed. The authors report a case of cardiac sudden death to a 45 years old white man. The diagnosis was revealed intra vitam and it was confirmed post mortem.
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