From HPO
Primary dilated cardiomyopathy- MedGen UID:
- 2880
- •Concept ID:
- C0007193
- •
- Disease or Syndrome
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
Congestive heart failure- MedGen UID:
- 9169
- •Concept ID:
- C0018802
- •
- Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Ventricular fibrillation- MedGen UID:
- 21844
- •Concept ID:
- C0042510
- •
- Disease or Syndrome
Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
Ventricular tachycardia- MedGen UID:
- 12068
- •Concept ID:
- C0042514
- •
- Finding
A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
Severely reduced left ventricular ejection fraction- MedGen UID:
- 868396
- •Concept ID:
- C4022790
- •
- Finding
A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.
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).
Increased circulating brain natriuretic peptide concentration- MedGen UID:
- 1779799
- •Concept ID:
- C5539662
- •
- Finding
An increased concentration of brain natriuretic peptide in the blood circulation.
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system