Apical hypertrophic cardiomyopathy in encephalomyopathy

Area of Science:

• Cardiology
• Neurology
• Metabolic Disorders

Background:

• Apical hypertrophic cardiomyopathy (AHC) is a cardiac condition with known associations with neurological abnormalities.
• The co-occurrence of AHC and metabolic myopathy has not been previously documented.
• Metabolic myopathies are a group of inherited disorders affecting muscle energy production.

Observation:

• An 84-year-old woman presented with a complex history of neurological and systemic symptoms including gait disturbance, dementia, Parkinsonism, ptosis, ophthalmoparesis, tetraparesis, polyneuropathy, lactacidosis, polyarthralgia, dorsalgia, and osteoporosis.
• Cardiac evaluation revealed electrocardiogram (ECG) abnormalities, diastolic dysfunction, and apical hypertrophic cardiomyopathy (AHC) on transthoracic echocardiography.
• Cardiac magnetic resonance imaging confirmed AHC and identified a small left ventricular apical aneurysm.

Findings:

• The patient exhibited a mild form of apical hypertrophic cardiomyopathy (AHC) alongside a constellation of multisystemic extracardiac abnormalities.
• The clinical presentation suggested an underlying metabolic disease, likely related to impaired oxidative metabolism.
• This case represents the first reported instance of AHC associated with metabolic myopathy.

Implications:

• Apical hypertrophic cardiomyopathy (AHC) may manifest with a milder cardiac phenotype than previously recognized.
• The findings suggest a potential link between AHC and systemic metabolic disorders, warranting further investigation.
• This case underscores the importance of considering multisystem involvement in patients diagnosed with AHC.