Familial or Heritable Pulmonary Hypertension

Familial or Heritable Pulmonary HypertensionAs with many diseases, there can be genetic predispositions for certain disease due to the presence of mutations.  Pulmonary hypertension is no exception and research has demonstrated that mutations in the BMPR2 gene causes pulmonary arterial hypertension.  It is believed that a mutation in BMPR2 actually promotes cell division (proliferation) or you prevents cell death.  The result of this is an overgrowth of cells in the small arteries of the lungs.  This in turn causes a narrowing of the vessel lumen effectively decreasing its diameter which increases resistance to blood flow.  A larger diameter blood vessel has less resistance to flow.  Blood pressure in the heart (right ventricle) and pulmonary artery increases to accommodate the increased resistance to flow.  Research is currently underway to determine if other genes and possibly environmental factors might be involved as well.

It is known that BMPR2 is inherited in an autosomal dominant pattern.  This means that each cell that expresses this gene has one copy of a mutated BMPR2 gene meaning you still have one good allele.  People have two copies of a gene: one you got from your mother and one you got from your father.  With one bad copy, this presents with predisposition.  In other words, people need to come in contact with something that causes the good allele to mutate.  This is what leads to contracting the disease.  It has been reported that many individuals with a mutated BMPR2 gene never present with PAH.  Nevertheless, the mutated gene will be passed down from generation to generation.

About Us

The Saudi Association for Pulmonary Hypertension (SAPH) is a medical and research national group of many medical specialists, who shared a common interest in the field of pulmonary vascular disease. The main goal for SAPH is to increase the awareness and the knowledge of pulmonary vascular diseases in the society and between the medical professionals.

The Saudi Association for Pulmonary Hypertension (SAPH) is a Subsidiary of The

Saudi Association for PH

STS office (Exit 11 & the Airport Road)

Riyadh, Saudi Arabia

P. O. Box 106911
Riyadh 11676
Saudi Arabia

Tel:+966-11-2488966
Fax: +966-11-2487431
Mobile:+966506426704

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