Bone morphogenic protein receptor 2 gene abnormality seen in
**Core Concept**
Bone morphogenic protein receptor 2 (BMPR2) gene abnormality is associated with a rare genetic disorder that affects the vasculature and leads to the development of pulmonary arterial hypertension (PAH). This condition is characterized by the proliferation and remodeling of pulmonary artery smooth muscle cells, resulting in increased pulmonary vascular resistance and right heart failure.
**Why the Correct Answer is Right**
BMPR2 gene mutations lead to the activation of downstream signaling pathways, including the Smad pathway, which is responsible for the transcriptional regulation of target genes involved in cell proliferation and differentiation. The abnormal activation of these pathways results in the uncontrolled proliferation of pulmonary artery smooth muscle cells, leading to the characteristic histopathological features of PAH. The BMPR2 gene is a key regulator of vascular homeostasis, and its abnormality is a primary cause of PAH.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because it does not specify the correct gene associated with PAH.
**Option B:** This option is incorrect because it is not directly related to the BMPR2 gene or PAH.
**Option C:** This option is incorrect because it is not a known association with BMPR2 gene abnormality.
**Clinical Pearl / High-Yield Fact**
BMPR2 gene mutations are inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition. This is in contrast to other forms of PAH, which are typically sporadic and not inherited.
**Correct Answer: D. Familial Pulmonary Arterial Hypertension**