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Is CD36 deficiency an etiology of hereditary hypertrophic cardiomyopathy?
T Tanaka1, K Sohmiya, K Kawamura
1Department of Internal Medicine, Osaka Medical College, Takatsuki, Japan.
Insights
CD36 deficiency, a condition affecting long-chain fatty acid uptake, is prevalent in hereditary hypertrophic cardiomyopathy (HCM) patients with asymmetric septal hypertrophy (ASH). This suggests CD36 deficiency may be a cause of HCM.
Area of Science:
- Cardiology
- Genetics
- Metabolic Diseases
Background:
- Hereditary hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder with unclear genetic causes.
- Reduced myocardial long-chain fatty acid (LCFA) uptake is observed in some HCM patients.
- Myocardial substrate utilization shifts and cardiac hypertrophy are linked in experimental models.
Purpose of the Study:
- To investigate the prevalence of CD36 deficiency in patients with HCM and other cardiac conditions.
- To explore the potential role of CD36 deficiency as an etiology for hereditary HCM, particularly with asymmetric septal hypertrophy (ASH).
Main Methods:
- Analyzed CD36 status in 47 HCM patients (29 with ASH, 18 without ASH), 11 with dilated cardiomyopathy (DCM), and 26 with pressure-overload cardiac hypertrophy.
- Assessed myocardial LCFA uptake and myocardial perfusion in patients with CD36 deficiency and HCM with ASH.
Main Results:
- CD36 deficiency was found in 37.9% of HCM patients with ASH, 9.1% with DCM, and 7.7% with pressure-overload hypertrophy.
- No CD36 deficiency was observed in HCM patients without ASH.
- HCM patients with ASH and CD36 deficiency exhibited reduced myocardial LCFA uptake, even with normal myocardial perfusion.
Conclusions:
- A high prevalence of CD36 deficiency exists in HCM patients with ASH.
- CD36 deficiency is a potential etiological factor in hereditary hypertrophic cardiomyopathy.
- Reduced myocardial LCFA uptake, linked to CD36 deficiency, may contribute to HCM pathogenesis.
Abstract:
Hereditary hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease, but the genetic defects are still unclear in many cases. Reduced myocardial long-chain fatty acid (LCFA) uptake has been demonstrated in patients with some types of HCM. In addition, a possible relationship between a shift ofmyocardial substrate utilization and cardiac hypertrophy has been suggested by experimental studies. Myocardial uptake of LCFAs occurs via a specific transporter, which is homologous with human CD36. CD36 deficiency has also been reported in some individuals, and is transmitted as an autosomal dominant trait like HCM. In this study, we analyzed CD36 in 47 patients with HCM [29 with asymmetric septal hypertrophy (ASH) and 18 without ASH], 11 patients with dilated cardiomyopathy (DCM), and 26 patients with pressure-overload cardiac hypertrophy. Eleven patients (37.9%) who had HCM with ASH, one (9.1%) with DCM, and two (7.7%) with pressure-overload hypertrophy showed CD36 deficiency, while none of the HCM patients without ASH had CD36 deficiency. One patient who had HCM with ASH and CD36 deficiency showed no myocardial LCFA uptake, although myocardial perfusion was normal. Reduced myocardial LCFA uptake despite normal myocardial perfusion was demonstrated in the other HCM patients with ASH and CD36 deficiency. Based on the high prevalence of CD36 deficiency in HCM patients with ASH, we hypothesize that this deficiency might be one etiology of hereditary HCM.