Registration Study for Rare Type of Pulmonary Hypertension

Registration Study for Rare Type of Pulmonary Hypertension

The knowledge on the rare type of pulmonary hypertension which can not be explained by left heart disease, respiratory disease or congenital heart disease is very limited. Investigators aim to setup a national registration study for the rare type of pulmonary hypertension, to understand the natural history, survival, progression, genetic and environmental contributions to disease.

The main research contents of this registration study includes:

1. Build a baseline database of the rare type of pulmonary hypertension. Collect general information, on-set symptoms and time, laboratory examination, imaging results, right heart catheterization and treatment information.
2. Follow up recruited patients at regular intervals（6m~1y). Collect information on change in patients condition, laboratory test and treatment.
3. Conduct genetic testing for gene mutation related or hereditary pulmonary hypertension. Link the clinical database to genetic database.
4. Establish bio-bank for serum/plasma, urine, stool, tissues or cells.
5. Establish prognostic study based on the clinical follow-up and genetic database.
6. Draw diagnostic and treatment algorithm for the rare type of pulmonary hypertension.

Controls subjects: blood sample and medical data collected once.

Inclusion Criteria:

• Participant is willing and able to give informed consent for participation in the study.
• Patients diagnosed as idiopathic pulmonary artery hypertension, hereditary pulmonary artery hypertension, hereditary hemorrhagic telangiectasia associated pulmonary artery hypertension, pulmonary veno-occlusive disease, pulmonary capillary hemangiomatosis associated pulmonary artery hypertension, cavernous transformation of portal vein associated pulmonary artery hypertension, special type of congenital heart disease associated pulmonary artery hypertension, chronic thromboembolism pulmonary hypertension.
• All patients should have undergone right heart catheterization, diagnosed according to the guideline.

Exclusion Criteria:

The participant may not enter the study if ANY of the following apply:

• Patients unwilling or unable to provide written consent for participation in the study.
• Not suffering from the rare type of pulmonary artery hypertension;

Inclusion criteria-Controls

• Participant is willing and able to give informed consent for participation in the study.
• Self-reported to be healthy