Myocarditis (heart muscle inflammation) is an important differential diagnosis in newly diagnosed cardiomyopathies!
Dilated (dilated) cardiomyopathy (DCM)
Cardiovascular (I00-I99).
- Secondary/specific cardiomyopathy – The heart is affected as part of systemic (affecting the entire body) diseases.
Hypertrophic (enlarged) cardiomyopathy (HCM)
Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99).
- Noonan syndrome – genetic disorder with autosomal recessive or autosomal dominant inheritance that resembles the symptoms of Turner syndrome (short stature, pulmonary stenosis, or other congenital heart defects; Low-set or large ears, ptosis (drooping of the upper eyelid ), epicanthal fold (“Mongolian fold”), cubitus valgus/abnormal position of the elbow with increased radial deviation of the forearm to the upper arm).
Endocrine, nutritional and metabolic diseases (E00-E90).
- Amyloidosis – extracellular (“outside the cell”) deposits of amyloids (degradation-resistant proteins) that can lead to cardiomyopathy (heart muscle disease), neuropathy (peripheral nervous system disease), and hepatomegaly (liver enlargement), among other conditions.
- Glycogenosis (glycogen storage disease).
- Fabry disease (synonyms: Fabry disease or Fabry-Anderson disease) – X-linked lysosomal storage disease due to a defect in the gene encoding the enzyme alpha-galactosidase A, resulting in progressive accumulation of the sphingolipid globotriaosylceramide in cells; mean age of manifestation: 3-10 years; early symptoms: Intermittent burning pain, decreased or absent sweat production, and gastrointestinal problems; if left untreated, progressive nephropathy (kidney disease) with proteinuria (increased excretion of protein in urine) and progressive renal failure (kidney weakness) and hypertrophic cardiomyopathy (HCM; disease of the heart muscle characterized by thickening of the heart muscle walls).
Cardiovascular system (I00-I99).
- Membranous or fibromuscular subvalvular aortic stenosis (often accompanying aortic valve insufficiency/deficient closure of the aortic valve of the heart).
- Secondary hypertrophy (“enlargement”) of the left ventricle (left ventricular hypertrophy) due to pressure load (arterial hypertension, aortic stenosis (narrowing of the aorta or aortic valve), athletes (boxers, weightlifters, rowers and canoeists)).
Psyche – Nervous System (F00-F99; G00-G99).
- Friedreich’s ataxia (FA; Friedreich’s disease) – genetic disorder with autosomal recessive inheritance; degenerative disease of the central nervous system leading, among other things, to movement disorder; most common inherited form of ataxia (movement disorder); disease generally begins in childhood or early adulthood.
Restrictive (limited) cardiomyopathy (RCM)
Endocrine, nutritional, and metabolic diseases (E00-E90).
- Amyloidosis
- Hemochromatosis (iron storage disease) – genetic disease with autosomal recessive inheritance with increased deposition of iron as a result of increased iron concentration in the blood with tissue damage.
Cardiovascular system (I00-I99)
- Constrictive pericarditis (the pericardium constricting form of pericarditis).
Arrhythmogenic right ventricular cardiomyopathy (ARVCM)
Cardiovascular (I00-I99).
- Brugada syndrome – included in the “primary congenital (congenital) cardiomyopathies” and there in the so-called ion channel diseases; an autosomal dominant point mutation of the SCN5 gene underlies 20% of the cases of the disease; Characteristic are the occurrence of syncope (brief loss of consciousness) and cardiac arrest, which first occurs due to cardiac arrhythmias such as polymorphic ventricular tachycardia or ventricular fibrillation; patients with this disease are apparently completely heart healthy, but can already suffer sudden cardiac death (PHT) in adolescence and early adulthood.
- Long-QT syndrome (LQTS) – belongs to the group of ion channel diseases (channelopathies); heart disease with pathologically prolonged QT interval in the electrocardiogram (ECG); disease is either congenital (inherited) or acquired, then usually as a result of an adverse drug reaction (see below “Cardiac arrhythmia caused by drugs“); can lead to sudden cardiac death (PHT) in otherwise heart-healthy people.
- Uhl’s disease – aplasia of the right ventricular myocardium (non-formation of the muscle of the right ventricle), the consequence of which is right heart dilatation (right heart enlargement) and ultimately right heart failure.
- Myocarditis (inflammation of the heart muscle).
Note: In athletes, cardiomyopathy can be easily overlooked, i.e., the changes can be misinterpreted as athlete’s heart.
