Article
Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.
Circulation. Genomic and precision medicine - 1 Apr 2018
Zhu Na, Gonzaga-Jauregui Claudia, Welch Carrie L, Ma Lijiang, Qi Hongjian, King Alejandra K, Krishnan Usha, Rosenzweig Erika B, Ivy D Dunbar, Austin Eric D, Hamid Rizwan, Nichols William C, Pauciulo Michael W, Lutz Katie A, Sawle Ashley, Reid Jeffrey G, Overton John D, Baras Aris, Dewey Frederick, Shen Yufeng, Chung Wendy K
Abstract excerpt
BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare disease characterized by pulmonary arteriole remodeling, elevated arterial pressure and resistance, and subsequent heart failure. Compared with adult-onset disease, pediatric-onset PAH is more heterogeneous and often associated with worse prognosis. Although BMPR2 mutations underlie ≈70% of adult familial PAH (FPAH) cases, the genetic basis of PAH in...
Topics
- Adolescent
- Adult
- Age of Onset
- Bone Morphogenetic Protein Receptors, Type II
- Child
- DNA Mutational Analysis
- Exome
- Familial Primary Pulmonary Hypertension