ABSTRACT
Objectives: To investigate the genetic mutation in a Chinese family with Pulmonary Arterial Hypertension (PAH). Methods: Whole exome sequencing was performed in two patients and two healthy family members in the PAH pedigree. Patient-specific variations were screened by bioinformatics methods and compared between groups. To further identify the association between these variations and PAH, Sanger sequencing was used to analyze the genotype of PAH patients and 100 healthy controls. Results: Two affected persons were found among the eight family members. The patients was presented as dyspnea after exercise, and right-heart catheterization was performed to measure the mean pulmonary arterial pressure (mPAP, 77 mmHg), cardiac output (CO, 4.92 L/min), and pulmonary vascular resistance (PVR, 13.4 Wood units). The hereditary characteristic in this family presented in mother and child, suggesting an autosomal dominant patter. Exome sequencing, mutation detection and sanger variants validation revealed a novel heterozygous frameshift mutation (c.747_748 insCCTTTGATGGAACATGA:p.V250fs) in the BMPR2 gene. Meanwhile, this heterozygous insertion mutation was absent in 100 ethnically matched control samples screened by direct sanger sequencing. Conclusions: Our study revealed a novel heterozygous frameshift mutation in the BMPR2 gene, expanding the BMPR2 mutation spectrums.
ABSTRACT
<p><b>BACKGROUND</b>Spontaneous coronary artery dissection (SCAD) is a nonatherosclerotic but a rare and extremely dangerous clinical entity, it has a high prevalence in young female population with acute myocardial infarction (AMI). The previous reports were restricted to other countries' population, but rare in China. Hence, this study aimed to focus on the characteristics of SCAD as a cause of young female AMI population in Jiangsu, China.</p><p><b>METHODS</b>This study enrolled young female AMI patients aged ≤50 years who underwent coronary angiography (CAG) and intracoronary imaging in our center between January 2013 and December 2016. Their clinical presentations, risk factors, and CAG characteristics were analyzed.</p><p><b>RESULTS</b>A total of 60 young female AMI (<7 days) patients were enrolled. From their CAG and intracoronary imaging results, the prevalence of SCAD in young female AMI population was 35% (21/60), the prevalence of coronary atherosclerostic heart disease was 65% (39/60). In the SCAD group, 43% (9/21) presented with non-ST-elevation myocardial infarction (NSTEMI) and the remainder presenting as STEMI. SCAD usually occurred in a single vessel (20/21, 95%), especially in left anterior descending artery (14/21, 67%). Eighteen patients (18/21, 86%) underwent conservative treatment, whereas the remaining three patients (3/21, 14%) underwent percutaneous coronary intervention. Regarding the angiographic results of SCAD lesions, intramural hematoma was discriminated in 95% (20/21), and Type I imaging was observed in 5% (1/21), Type II was observed in 67% (14/21), and Type III was 29% (6/21). The average stenosis in the group was 76.9% ± 20.6%, and the mean lesion length was 36.6 ± 8.6 mm.</p><p><b>CONCLUSIONS</b>SCAD has a high prevalence in young female AMI population in Jiangsu, China. Discriminating the cause of AMI in young female population is very important.</p>