From the Guidelines
Metabolic diseases of the heart are conditions where abnormal chemical processes affect cardiac function and structure, and their management should prioritize treating the underlying metabolic disorder with specific medications and lifestyle modifications to reduce morbidity, mortality, and improve quality of life. These conditions include diabetic cardiomyopathy, where high blood sugar damages heart muscle; cardiac amyloidosis, characterized by protein deposits in heart tissue; and disorders of fatty acid metabolism like carnitine deficiency, which impairs energy production in cardiac cells 1. Other examples include glycogen storage diseases affecting the heart, mitochondrial cardiomyopathies, and thyroid-related heart conditions.
Some key points to consider in the management of metabolic heart diseases include:
- Treating the underlying metabolic disorder with specific medications, such as metformin or insulin for diabetes, and hormone replacement therapy for thyroid disorders
- Implementing lifestyle modifications, such as dietary changes, including carbohydrate restriction in certain metabolic conditions, and increased physical activity
- Regular cardiac monitoring to detect potential complications, such as heart failure, arrhythmias, or structural changes
- Early diagnosis and intervention to prevent progression of the disease and reduce the risk of cardiovascular events
According to the most recent guidelines, the primary goal of treating metabolic syndrome is to reduce cardiovascular disease, and lifestyle modifications, such as weight loss and increased physical activity, should be the first-line therapy 1. Additionally, the use of sodium–glucose cotransporter 2 (SGLT2) inhibitors or glucagon-like peptide 1 receptor agonists (GLP-1 RAs) has been shown to have a major benefit in reducing cardiovascular and kidney outcomes in people with type 2 diabetes 1.
Overall, the management of metabolic heart diseases requires a comprehensive approach that addresses the underlying metabolic disorder, as well as lifestyle modifications and regular cardiac monitoring to reduce morbidity, mortality, and improve quality of life.
From the Research
Metabolic Diseases of the Heart
Metabolic diseases of the heart encompass a heterogeneous group of conditions that commonly affect the heart and contribute adversely to cardiovascular outcomes. The heart, being a metabolically active organ, is often affected by inborn errors in metabolism (IEMs), presenting with cardiac manifestations such as:
- Cardiomyopathy
- Arrhythmia
- Valvular dysfunction
Types of Metabolic Diseases
More than 40 IEMs are reported to cause cardiomyopathy, including:
- Fatty acid oxidation defects
- Glycogen storage diseases
- Lysosomal storage diseases
- Peroxisome storage diseases
- Mitochondrial cardiomyopathies
- Organic acidaemias
- Aminoacidopathies
- Congenital disorders of glycosylation 2
Effects on the Cardiovascular System
Many metabolic diseases result in pathological changes within the cardiovascular system, often with the most severe effects on the function of the heart and great vessels. Metabolic disorders affecting the heart include:
- Disorders of amino acid metabolism
- Storage diseases
- Neuromuscular diseases
- Diseases of metal and pigment metabolism
- Carnitine deficiency
- Connective tissue disorders 3
Metabolic Syndrome
The metabolic syndrome is a complex constellation of disorders, each one a significant risk factor for the development of cardiovascular disease (CVD). The individual components of the metabolic syndrome appear to be linked by the presence of insulin resistance 4. The clustering of metabolic and pathophysiological cardiovascular risk factors has long been recognized, and people with the metabolic syndrome have 50-60% higher cardiovascular risk than those without 5.
Cardiovascular Consequences
The metabolic syndrome is defined as the concurrence of obesity-associated cardiovascular risk factors, including abdominal obesity, impaired glucose tolerance, hypertriglyceridemia, decreased HDL cholesterol, and/or hypertension. Each component of the metabolic syndrome is an independent risk factor for cardiovascular disease, and the combination of these risk factors elevates rates and severity of cardiovascular disease 6