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Items: 13

1.

Pulmonary arterial hypertension

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. [from HPO]

MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
2.

Hypertensive disorder

The presence of chronic increased pressure in the systemic arterial system. [from HPO]

MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
3.

Primary pulmonary hypertension 1

Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013). Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). Genetic Heterogeneity of Primary Pulmonary Hypertension PPH2 (615342) is caused by mutation in the SMAD9 gene (603295) on chromosome 13q13; PPH3 (615343) is caused by mutation in the CAV1 gene (601047) on chromosome 7q31; and PPH4 (615344) is caused by mutation in the KCNK3 gene (603220) on chromosome 2p23. See 265400 for a possible autosomal recessive form of PPH. Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1; 187300), caused by mutation in the ENG gene (131195), and HHT2 (600376), caused by mutation in the ACVRL1 (ALK1) gene (601284). Pediatric-onset pulmonary hypertension may be seen in association with ischiocoxopodopatellar syndrome (ICPPS; 147891). The skeletal manifestations of ICPPS are highly variable and may not be detected in children. Parents are not likely to have PAH (Levy et al., 2016). [from OMIM]

MedGen UID:
1643124
Concept ID:
C4552070
Disease or Syndrome
4.

Heritable pulmonary arterial hypertension

Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal. [from ORDO]

MedGen UID:
90953
Concept ID:
C0340543
Disease or Syndrome
5.

Right ventricular hypertrophy

Enlargement or overgrowth of the myocardium of the right ventricle, due chronic pressure overload. [from NCI]

MedGen UID:
57981
Concept ID:
C0162770
Disease or Syndrome
6.

Vascular disorder

A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma. [from NCI]

MedGen UID:
22621
Concept ID:
C0042373
Disease or Syndrome
7.

Disorder of lung

A non-neoplastic or neoplastic disorder affecting the lung. Representative examples of non-neoplastic disorders include chronic obstructive pulmonary disease and pneumonia. Representative examples of neoplastic disorders include benign processes (e.g., respiratory papilloma) and malignant processes (e.g., lung carcinoma and metastatic cancer to the lung). [from NCI]

MedGen UID:
7399
Concept ID:
C0024115
Disease or Syndrome
8.

Cardiomegaly

Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. [from HPO]

MedGen UID:
5459
Concept ID:
C0018800
Finding
9.

Heart disease

A non-neoplastic or neoplastic disorder that affects the heart and/or the pericardium. Representative examples include endocarditis, pericarditis, atrial myxoma, cardiac myeloid sarcoma, and pericardial malignant mesothelioma. [from NCI]

MedGen UID:
5458
Concept ID:
C0018799
Disease or Syndrome
10.

Disorder of cardiovascular system

A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. [from NCI]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
11.

Idiopathic and/or familial pulmonary arterial hypertension

. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown . [from ORDO]

MedGen UID:
1611148
Concept ID:
CN924911
Disease or Syndrome
12.

Pulmonary hypertension, primary, fenfluramine-associated

MedGen UID:
369988
Concept ID:
C1969343
Disease or Syndrome
13.

Pulmonary hypertension, primary, dexfenfluramine-associated

MedGen UID:
369987
Concept ID:
C1969342
Disease or Syndrome
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