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Bifurcation Stenting

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Two-Year Outcomes and Predictors of Target Lesion Revascularization for Non-Left Main Coronary Bifurcation Lesions Following Two-Stent Strategy With 2nd-Generation Drug-Eluting Stents Feasibility and efficacy of the ultrashort side branch dedicated balloon in coronary bifurcation stenting Optimal Strategy for Provisional Side Branch Intervention in Coronary Bifurcation Lesions: 3-Year Outcomes of the SMART-STRATEGY Randomized Trial Clinical Outcome of Double Kissing Crush Versus Provisional Stenting of Coronary Artery Bifurcation Lesions: The 5-Year Follow-Up Results From a Randomized and Multicenter DKCRUSH-II Study (Randomized Study on Double Kissing Crush Technique Versus Provisional Stenting Technique for Coronary Artery Bifurcation Lesions) Step-by-step manual for planning and performing bifurcation PCI: a resource-tailored approach Long-term outcomes of routine versus provisional T-stenting for de novo coronary bifurcation lesions: five-year results of the Bifurcations Bad Krozingen I study Impact of bifurcation technique on 2-year clinical outcomes in 773 patients with distal unprotected left main coronary artery stenosis treated with drug-eluting stents A randomized trial of a dedicated bifurcation stent versus provisional stenting in the treatment of coronary bifurcation lesions Evolution of the Crush Technique for Bifurcation Stenting Long-Term Clinical Outcomes of Final Kissing Ballooning in Coronary Bifurcation Lesions Treated With the 1-Stent Technique: Results From the COBIS II Registry (Korean Coronary Bifurcation Stenting Registry)
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Clinical Trial2018 May 9;19(1):87.

JOURNAL：Respir Res. Article Link

Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients

Yang H, Zeng Q, Zhou Z et al. Keywords: Genetic analyses; Genotype-phenotype correlation; Pulmonary arterial hypertension

ABSTRACT

BACKGROUND - Pulmonary arterial hypertension (PAH) is a progressive and fatal disorder associated with high pulmonary artery pressure. Genetic testing enables early diagnosis and offers an opportunity for family screening. To identify genetic mutations and help make a precise diagnosis, we performed genetic testing in 191 probands with PAH and tried to analyze the genotype-phenotype correlation.


METHODS - Initially, PAH samples (n = 119) were submitted to BMPR2 screening using Sanger sequencing. Later, we developed a PAH panel test to identify causal mutations in 13 genes related to PAH and tried to call BMPR2 copy number variations (CNVs) with the panel data. Multiplex ligation-dependent probe amplification (MLPA) was used to search for CNVs in BMPR2, ACVRL1 and ENG. Notably, EIF2AK4 gene was also involved in the panel, which allowed to distinguish pulmonary veno-occlusive disease (PVOD)/pulmonary capillary hemangiomatosis (PCH) patients from idiopathic PAH (IPAH). Characteristics of patients were compared using t test for continuous variables.

RESULTS - Pathogenic BMPR2 mutations were detected most frequently in 32 (17.9%) IPAH and 5 (41.7%) heritable PAH (HPAH) patients by sequencing, and 12 BMPR2 CNVs called from the panel data were all successfully confirmed by MLPA analysis. In addition, homozygous or compound heterozygous EIF2AK4 mutations were identified in 6 patients, who should be corrected to a diagnosis of PVOD/PCH. Genotype-phenotype correlation analysis revealed that PAH patients with BMPR2 mutations were younger at diagnosis (27.2y vs. 31.6y, p = 0.0003) and exhibited more severe pulmonary hemodynamic impairment and a worse cardiac index compared with those without BMPR2 mutations.

CONCLUSIONS - The panel assay represented a highly valuable tool in PAH genetic testing, not only for the detection of small sequence alterations, but also for an indication of BMPR2 CNVs, which had implications for the specific samples to perform further MLPA assay. Analyses of PAH causal genes have a great help to clinical diagnosis and deep implications in disease treatment.
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