From HPO
Primary dilated cardiomyopathy- MedGen UID:
- 2880
- •Concept ID:
- C0007193
- •
- Disease or Syndrome
Dilated cardiomyopathy is a form of heart disease in which the heart (cardiac) muscle becomes thin and enlarged (dilated). The dilation, which typically starts in the lower left chamber of the heart (left ventricle), makes it harder for the heart to pump blood to the rest of the body. \n\nDilated cardiomyopathy is called nonsyndromic dilated cardiomyopathy when it cannot be explained by other causes, such as a heart attack or damage to the valves of the heart, and is not associated with signs and symptoms that affect other parts of the body. \n\nThe signs and symptoms of nonsyndromic dilated cardiomyopathy vary among affected individuals, even among members of the same family. The signs and symptoms typically begin in mid-adulthood, but they can occur at any time from infancy to late adulthood. Affected individuals may have a sensation of fluttering or pounding in the chest (palpitations); shortness of breath, especially when lying down or during physical activity; fatigue; and swelling of the legs and feet. Affected individuals may also have episodes of dizziness or fainting (syncope). \n\nOver time, people with nonsyndromic dilated cardiomyopathy may develop life-threatening complications, which can include abnormal heart rhythms (arrhythmias) and heart failure. Although uncommon, sudden death can occur in people with nonsyndromic dilated cardiomyopathy, even if they have no other symptoms of the condition.\n\n
Reduced left ventricular ejection fraction- MedGen UID:
- 868398
- •Concept ID:
- C4022792
- •
- Finding
A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.
Increased left ventricular end-diastolic volume- MedGen UID:
- 1660169
- •Concept ID:
- C4748648
- •
- Finding
Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).
Proximal muscle weakness- MedGen UID:
- 113169
- •Concept ID:
- C0221629
- •
- Finding
A lack of strength of the proximal muscles.
Gowers sign- MedGen UID:
- 65865
- •Concept ID:
- C0234182
- •
- Finding
A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.
Calf muscle hypertrophy- MedGen UID:
- 335868
- •Concept ID:
- C1843057
- •
- Finding
Muscle hypertrophy affecting the calf muscles.
Increased variability in muscle fiber diameter- MedGen UID:
- 336019
- •Concept ID:
- C1843700
- •
- Finding
An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.
Elevated circulating creatine kinase activity- MedGen UID:
- 69128
- •Concept ID:
- C0241005
- •
- Finding
The activity of creatine kinase in the blood circulation is above the upper limit of normal.
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the musculoskeletal system