A Late Primary Carnitine Deficiency Diagnosis in Adulthood during Arrhythmic Risk Reassessment in Hypertrophic Cardiomyopathy.
Anno:
2024
Background: Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease, typically caused by mutations in cardiac sarcomere protein genes. Inborn errors of metabolism are a rare cause of this condition, usually diagnosed in infancy due to severe heart failure and concurrent extracardiac manifestations. Clinical case: A 36-year-old female…