Qian-Qian Liu

Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients

Mutations of the bone morphogenetic protein type II receptor (BMPR2) gene predispose to pulmonary arterial hypertension (PAH). 290 idiopathic (I)PAH patients and 15 heritable (H)PAH were screened to determine the spectrum and rate of BMPR2 mutations in a large Chinese patient group. Gene sequencing and multiplex ligation-dependent probe amplification (MLPA®) were used to detect sequence mutations and large rearrangements (RGTs). Total mutation rate was 14.5% (n=42 out of 290) in Chinese IPAH patients, and 53.3% (n=8 out of 15) in HPAH patients. RGT mutation rate was 3.1% (n=7 out of 229) and represented 14% (n=7 out of 50) of all identified mutations. 25 BMPR2 mutations were newly identified. Patients in this study were younger than other reported PAH subjects. BMPR2 mutation carriers were ∼6 yrs younger at diagnosis than noncarriers (p=0.002), but this relationship was significant only in the female group, which was larger. The proportion of females carrying a BMPR2 mutation was half that of males (12.8% versus 25.3%; p=0.008). Our results indicate that the overall genetics of Chinese PAH patients is similar to that of other populations, but the clinical picture differs by the precocity of the disease in the whole patient group, and the lower proportion of females found to carry a BMPR2 mutation.

Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia–associated pulmonary hypertension

Mutations in activin receptor‐like kinase‐1 (ACVRL‐1) or endoglin (ENG) are mostly identified in patients with hereditary haemorrhagic telangiectasia (HHT) associated with pulmonary hypertension (PH), but have not yet been studied in Chinese patients.

BMPR2 mutation is a potential predisposing genetic risk factor for congenital heart disease associated pulmonary vascular disease.

BACKGROUND Pulmonary arterial hypertension (PAH) frequently arises in patients with congenital heart disease (CHD) and can lead to pulmonary vascular disease (PVD). The present study was initiated to distinguish the predisposing effect of bone morphogenetic protein receptor 2 (BMPR2) in CHD by comparing the different mutation features of BMPR2 between CHD patients with or without PVD. METHODS AND RESULTS 294 CHD-PVD and 161 CHD without PVD patients were enrolled. PAH was diagnosed by heart catheterization at rest after CHD was first recognized by echocardiography. PVD was defined as a pulmonary vascular resistance (PVR) more than 3 Wood units. BMPR2 gene was screened by direct sequencing. A total of 24 mutations were identified, accounting for 22 of the 294 patients with CHD-PVD (7.5%) and 2 of the 161 CHD patients without PVD (1.2%, P=0.004). Female/male CHD-PVD patient ratio was 1.6:1, while in the BMPR2 mutation carriers female patients were more dominant (4.5:1, P=0.042). A significant higher BMPR2 mutation rate (12.6%) was found in repaired CHD-PVD (P=0.010). BMPR2 mutations in CHD-PVD patients were identified in different clinical phenotypes. Missense mutation of BMPR2 is the dominant mutation type. CONCLUSION Genetic predisposing factor may be an important component in the process of development of PVD in CHD patients. Female, repaired patients are more likely to be detected with genetic mutations.

Comparison of 320-Row Computed Tomography Coronary Angiography With Conventional Angiography for the Assessment of Coronary Artery Disease With Different Atherosclerotic Plaque Characteristics

Objective The objective of this study was to compare the accuracy of 320-row computed tomography angiography (CTA) with conventional coronary angiography. Methods Two hundred seventy-four patients with coronary artery disease who received both invasive coronary angiography and 320-row CTA were included. Stenosis of 50% or greater was considered obstructive. Results In patient-based analysis, accuracy of CTA was 89.4%, with sensitivity of 94.6% and specificity of 54.3%. In segment-based analysis, the overall (4110 segments) accuracy of CTA was 90.7%, with sensitivity of 66.5% and specificity of 95.8%. For the segments with plaques (1191 segments), accuracy of CTA was 80.1%, with sensitivity of 83.5% and specificity of 77.0%. For segments with no plaque (2919 segments), accuracy of CTA was 95.0%, with sensitivity of 0.7% and specificity of 100.0%. For the segments with stents (110 segments), the accuracy of CTA was 86.4%. Conclusions A 320-row CTA has potential to detect coronary lesions with soft and intermediate plaques.

Shape of the Pulmonary Artery Doppler‐Flow Profile Predicts the Hemodynamics of Pulmonary Hypertension Caused by Left‐Sided Heart Disease

Previous studies demonstrated a relationship between pulmonary hemodynamics and shape of pulmonary artery (PA) Doppler‐flow profiles in a mixed pulmonary hypertension (PH) cohort.

e0127 Determination of pulmonary artery pressure and cardiac output in rat

Objective To establish a method for determination of pulmonary artery pressure and cardiac output in rat. Methods 20 Sprgue—Dawely rats were randomly assigned into two groups: control group and pulmonary arterial hypertension (PAH) group. Rats in PAH group were received a single subcutaneous injection of monocrotaline (60 mg/kg). The hand-made PE-50 catheters were inserted into pulmonary artery via right jugular vein, which we can perform mean pulmonary artery pressure. Similarly, cardiac output was detected through thermodilution method. Results After 21 days, compared with control group, mean pulmonary artery pressure was significantly increased (17.4±1.8 mm Hg in control group vs 61.8±4.3 mm Hg in PAH group, respectively) and cardiac output was significantly decreased (130±5.8 ml/min in control group vs 71±6.7 ml/min in PAH group, respectively) in PAH group. Conclusions This method is a simple and direct method to detect pulmonary artery pressure and cardiac output in rat.