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Familial hypertrophic cardiomyopathy mimicing typical dilated cardiomyopathy
Insights
Hypertrophic cardiomyopathy (HCM) can present with dilated cardiomyopathy (DCM)-like features. Autopsy and family history reveal significant myocardial disarray and fibrosis, challenging traditional diagnoses.
Area of Science:
- Cardiology
- Pathology
- Genetics
Background:
- Hypertrophic cardiomyopathy (HCM) is a primary cardiac disorder characterized by left ventricular hypertrophy.
- Dilated cardiomyopathy (DCM) involves ventricular dilatation and systolic dysfunction.
- Distinguishing between HCM and DCM can be challenging, especially in atypical presentations.
Observation:
- An autopsy case presented with dilated cardiomyopathy (DCM)-like features but was pathologically diagnosed with hypertrophic cardiomyopathy (HCM).
- The patient exhibited marked left ventricular (LV) dilatation, thin walls, and extensive myocardial fibrosis.
- A familial link was identified, with the patient's son showing features of both HCM and DCM.
Findings:
- The autopsy revealed significant myocardial disarray (30% excluding fibrosis) and fibrosis (48% in septum, 9% in LV free wall), supporting an HCM diagnosis.
- The son displayed asymmetric septal hypertrophy, LV hypertrophy, diffuse myocyte disarray, LV dilatation, and hypokinesis.
- The son's presentation led to a diagnosis of HCM with overlapping DCM features.
Implications:
- This case highlights the complex phenotypic variability within HCM.
- It underscores the importance of considering HCM even in the presence of DCM-like features.
- Recognizing HCM with DCM features is crucial for accurate diagnosis and family screening.
Abstract:
An autopsied patient who showed typical dilated cardiomyopathy (DCM)-like features and was pathologically diagnosed with hypertrophic cardiomyopathy (HCM) is presented. The patient, a 60-year-old male at the time of death, died of intractable congestive heart failure. At autopsy the heart weighed 570g and showed marked left ventricular (LV) dilatation with a thin wall (ventricular septum/free wall of the LV = 7 mm/8 mm). There was no evidence of significant stenosis in the extramural coronary arteries. Massive fibrosis was found in the middle and outer thirds of the ventricular septum and anterior wall of the LV (48% in the ventricular septum and 9% in the free wall of the LV). As myocytes were not present in the area with massive fibrosis, percent area of disarray was calculated excluding the area of massive fibrosis and found to be 30% in the ventricular septum. Based on the marked increase in the percent area of disarray, this case was diagnosed as HCM. The patient's 37-year-old son showed asymmetric septal hypertrophy on echocardiography (ventricular septum/posterior wall of the LV = 15 mm/11 mm), marked LV hypertrophy on electrocardiography, and diffuse and marked disarray by endomyocardial biopsy. There were also LV dilatation (LV diastolic dimension = 51 mm) and hypokinesis of the LV; as a result, a diagnosis of HCM with features of DCM was made.