From HPO
Sudden cardiac death- MedGen UID:
- 38841
- •Concept ID:
- C0085298
- •
- Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Atrial fibrillation- MedGen UID:
- 445
- •Concept ID:
- C0004238
- •
- Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
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.
Sinus bradycardia- MedGen UID:
- 39316
- •Concept ID:
- C0085610
- •
- Pathologic Function
Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.
Left ventricular hypertrophy- MedGen UID:
- 57442
- •Concept ID:
- C0149721
- •
- Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Prolonged QT interval- MedGen UID:
- 57494
- •Concept ID:
- C0151878
- •
- Finding
Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
Incomplete right bundle branch block- MedGen UID:
- 82648
- •Concept ID:
- C0262525
- •
- Disease or Syndrome
Right bundle branch block (RBBB) represents an abnormality in the intraventricular electrical conduction system of the human heart, generating enlarged QRS and modified vectors on the electrocardiogram (ECG). Incomplete RBBB (IRBBB) is defined by (i) QRS duration between 110 and 120 ms in adults; (ii) rsr, rsR, or rSR in leads V1 or V2. The R or r deflection is usually wider than the initial R wave. In a minority of patients, a wide and often notched R wave pattern may be seen in leads V1 and/or V2; (iii) S wave of greater duration than R wave or greater than 40 ms in leads I and V6 in adults; and (iv) Normal R peak time in leads V5 and V6 but greater than 50 ms in lead V1. The first 3 criteria should be present to make the diagnosis. When a pure dominant R wave with or without a notch is present in V1, criterion 4 should be satisfied.
Left ventricular noncompaction- MedGen UID:
- 450531
- •Concept ID:
- C1960469
- •
- Disease or Syndrome
Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly. Instead of the muscle being smooth and firm, the cardiac muscle in the left ventricle is thick and appears spongy. The abnormal cardiac muscle is weak and has an impaired ability to pump blood because it either cannot completely contract or it cannot completely relax. For the heart to pump blood normally, cardiac muscle must contract and relax fully.\n\nSome individuals with left ventricular noncompaction experience no symptoms at all; others have heart problems that can include sudden cardiac death. Additional signs and symptoms include abnormal blood clots, irregular heart rhythm (arrhythmia), a sensation of fluttering or pounding in the chest (palpitations), extreme fatigue during exercise (exercise intolerance), shortness of breath (dyspnea), fainting (syncope), swelling of the legs (lymphedema), and trouble laying down flat. Some affected individuals have features of other heart defects. Left ventricular noncompaction can be diagnosed at any age, from birth to late adulthood. Approximately two-thirds of individuals with left ventricular noncompaction develop heart failure.
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).
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
- Constitutional symptom