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Published on: May 11, 2015
Genetics of pulmonary hypertension
D Hunter Best1, Eric D Austin, Wendy K Chung
1aDepartment of Pathology, University of Utah School of Medicine bARUP Laboratories, ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah cDepartment of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee dDepartments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York eDepartment of Medicine, Intermountain Medical Center, Murray fDepartment of Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Genetic discoveries have identified the basis for heritable pulmonary arterial hypertension (PAH). Understanding these genetic links, including BMPR2 mutations, aids patient care and genetic testing decisions.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Pulmonary Medicine
Background:
- Pulmonary arterial hypertension (PAH) has a significant heritable component.
- Genetic factors play a crucial role in the predisposition to PAH.
- Understanding the genetic basis of PAH is vital for patient management.
Purpose of the Study:
- To review the genetic discoveries in heritable pulmonary arterial hypertension (PAH).
- To describe the impact of these genetic findings on clinical medicine and patient care.
Main Methods:
- Literature review of genetic discoveries in PAH.
- Analysis of identified gene mutations and their inheritance patterns.
Main Results:
- Bone morphogenetic protein receptor type II (BMPR2) mutations are a major cause of familial PAH.
- Other genes, including ACVRL1, ENG, CAV1, and KCNK3, are implicated in autosomal-dominant PAH.
- EIF2AK4 mutations cause autosomal recessive pulmonary capillary hemangiomatosis and pulmonary veno-occlusive disease.
Conclusions:
- The identification of heritable forms of pulmonary hypertension offers opportunities for genetic counseling.
- Physicians can educate patients and families about genetic testing risks and benefits.
- Genetic insights are transforming the understanding and treatment of PAH.
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