Phenotypes associated with the disease Chronic thromboembolic pulmonary hypertension (ORPHA:70591):
- Congestive heart failure (HP:0001635): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:70591)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:70591)
- Increased pulmonary vascular resistance (HP:0005317): Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:70591)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70591)
- Pulmonary embolism (HP:0002204): An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70591)
- Deep venous thrombosis (HP:0002625): Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70591)
- Reduced vital capacity (HP:0002792): An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70591)
- Exertional dyspnea (HP:0002875): Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70591)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70591)
- Reduced FEV1/FVC ratio (HP:0030877): Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70591)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Syncope (HP:0001279): A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Cardiac shunt (HP:0001693): Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Right ventricular failure (HP:0001708): Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Abnormality of blood and blood-forming tissues (HP:0001871): An abnormality of the hematopoietic system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Antiphospholipid antibody positivity (HP:0003613): The presence of circulating autoantibodies to phospholipids. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Recurrent thromboembolism (HP:0004831): Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Right ventricular dilatation (HP:0005133): Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Abnormal T-wave (HP:0005135): An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Abnormal left ventricular function (HP:0005162): Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Central sleep apnea (HP:0010536): Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Elevated circulating C-reactive protein concentration (HP:0011227): The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Complete right bundle branch block (HP:0011712): A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Dysfibrinogenemia (HP:0011901): Qualitatively abnormal fibrinogen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Abnormality of von Willebrand factor (HP:0012146): Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Elevated circulating HDL-C concentration (HP:0012184): The concentration of high-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Hypocapnia (HP:0012417): Abnormally reduced blood carbon dioxide (CO2) level. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Lupus anticoagulant (HP:0025343): Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Right atrial enlargement (HP:0030718): Increase in size of the right atrium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Increased factor VIII activity (HP:0030977): Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70591)
- Inflammation of the large intestine (HP:0002037): Inflammation, or an inflammatory state in the large intestine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:70591)
- Neoplasm (HP:0002664): An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:70591)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:70591)
- Myeloproliferative disorder (HP:0005547): Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:70591)