Skip to content
Use your HSA or FSA funds

Condition report · Cardiovascular

Heritable Pulmonary Arterial Hypertension

A genetic disorder characterized by high blood pressure in the arteries of the lungs.

A condition report looks for rare variants known to cause the conditions it covers.

Included in Premium and Premium + AI

Premium adds $99 per kit for the first year.

Order with Premium

The 3 conditions we analyse

Heritable Pulmonary Arterial Hypertension

Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), 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.

Genes analysed

Also known as

familial pulmonary arterial hypertension; FPAH; hereditary pulmonary arterial hypertension; HPAH

Includes 7 related subtypes ↓
  • pulmonary hypertension, primary, 1
  • pulmonary hypertension, primary, 2
  • pulmonary hypertension, primary, 3
  • pulmonary hypertension, primary, 4
  • pulmonary hypertension, primary, 5
  • pulmonary hypertension, primary, 6
  • pulmonary hypertension, primary, 7
MONDO:0017148Orphanet 275777MedGen 90953

Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Haemangiomatosis

A rare form of pulmonary hypertension caused by narrowing of the small veins and capillaries in the lungs, most often caused by changes in EIF2AK4.

What a diagnosis changes

Knowing about it matters because some standard pulmonary hypertension medicines can cause fluid on the lungs in this condition, and early referral for transplant assessment may be needed.

Genes analysed

Also known as

PVOD and/or PCH

MONDO:0018554Orphanet 431353MedGen 785618

Pulmonary Veno-Occlusive Disease

Narrowing or blockage of the small veins in the lungs that leads to pulmonary hypertension, with inherited forms caused by changes in BMPR2 or EIF2AK4.

Genes analysed

Also known as

obstructive disease of the pulmonary veins; pulmonary capillary hemangiomatosis; PVOD

Includes 2 related subtypes ↓
  • pulmonary venoocclusive disease 1
  • pulmonary venoocclusive disease 2
MONDO:0009937Orphanet 31837MedGen 18769

Other cardiovascular conditions

All conditions →

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Free shipping · Results in 6–8 weeks

Premium adds $99 per kit for the first year.

Order with Premium