Clinical characteristics of patients with indication of cardiac implantable electronic devices implantation complicating with acute pulmonary thromboembolism / 中华心血管病杂志

Objective: To investigate the clinical characteristics of inpatients with the indication of cardiac implantable electronic devices (CIED) therapy and combined acute pulmonary thromboembolism (APTE). Methods: We retrospectively screened 8 641 inpatients who admitted with the indication of CIED implantation in Fuwai Hospital from January 2014 to May 2019. The clinical characteristics, management strategies and clinical outcome were analyzed for patients diagnosed as APTE. Results: APTE were identified in 45 (5‰) patients in this cohort, there were 18(40%) male patients, the average age was (73±8) years old and body mass index was (27±10) kg/m2.Thirty-two (70%) patients were at intermediate-risk and 13 (30%) at low-risk. Anti-coagulation therapy was initiated in 38(84%) patients, and 30 patients underwent CIED implantation (27 pacemaker, 2 CRT and 1 ICD). No postoperative bleeding or pocket hematoma were detected in the 23 patients taking anticoagulation medication before implantation. During an average of (30±7) months' follow up, thrombus was dissolved in 20 patients, hemorrhage complications were observed in 2 patients (1 cerebral hemorrhage and 1 hematuria), anticoagulation therapy was discontinued in these 2 patients. Among 15 patients without immediate CIED implantation and treated with anticoagulation therapy during hospitalization, 2 patients developed complete paroxysmal Ⅲ° atrioventricular block, and recovered after therapy during hospitalization. Seven patients were re-hospitalized for CIED implantation due to bradycardia. Five patients died during follow-up (3 sudden cardiac death, 1 APTE combined with cerebral infarction, and 1 pulmonary infection). Conclusion: APTE is not rare in patients with the indication of CIED implantation, CIED implantation and anti-coagulation therapy are safe for these patients, and transient atrioventricular block could be detected in APTE patients.

Acute and Chronic Changes and Predictive Value of Tpeak-Tend for Ventricular Arrhythmia Risk in Cardiac Resynchronization Therapy Patients / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Prolongation of the Tpeak-Tend (TpTe) interval as a measurement of transmural dispersion of repolarization (TDR) is an independent risk factor for chronic heart failure mortality. However, the cardiac resynchronization therapy's (CRT) effect on TDR is controversial. Therefore, this study aimed to evaluate CRTs acute and chronic effects on repolarization dispersion. Furthermore, we aimed to investigate the relationship between TpTe changes and ventricular arrhythmia.</p><p><b>METHODS</b>The study group consisted of 101 patients treated with CRT-defibrillator (CRT-D). According to whether TpTe was shortened, patients were grouped at immediate and 1-year follow-up after CRT, respectively. The echocardiogram index and ventricular arrhythmia were observed and compared in these subgroups.</p><p><b>RESULTS</b>For all patients, TpTe slightly increased immediately after CRT-D implantation, and then decreased at the 1-year follow-up (from 107 ± 23 to 110 ± 21 ms within 24 h, to 94 ± 24 ms at 1-year follow-up, F = 19.366,P< 0.001). No significant difference in the left ventricular reverse remodeling and ventricular tachycardia/ventricular fibrillation (VT/VF) episodes between the TpTe immediately shortened and TpTe immediately nonshortened groups. However, patients in the TpTe at 1-year shorten had a higher rate of the left ventricular (LV) reverse remodeling (65% vs. 44%, χ2 = 4.495, P = 0.038) and less VT/VF episodes (log-rank test, χ2 = 10.207, P = 0.001) compared with TpTe 1-year nonshortened group. TpTe immediately after CRT-D independently predicted VT/VF episodes at 1-year follow-up (hazard ratio [HR], 1.030; P = 0.001).</p><p><b>CONCLUSIONS</b>Patients with TpTe shortened at 1-year after CRT had a higher rate of LV reverse remodeling and less VT/VF episodes. The acute changes of TpTe after CRT have minimal value on mechanical reverse remodeling and ventricular arrhythmia.</p>

Screening of pathogenic genes in Chinese patients with arrhythmogenic right ventricular cardiomyopathy / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable cardiac disease predominantly caused by mutations in desmosomal protein genes. Previous genetic analyses of the Chinese ARVC population are limited to small size and restriction to a single gene. This study was aimed to investigate the genotype in a large series of Chinese patients with ARVC through comprehensively screening nine ARVC-causing genes.</p><p><b>METHODS</b>A total of 100 unrelated ARVC patients and 300 age, gender and ethnicity matched healthy controls were genetically tested with multiplexing targeted resequencing for nine previously reported ARVC-causing genes, including plakophilin-2, desmoplakin, desmoglein-2, desmocollin-2, plakoglobin, transforming growth factor beta-3, transmembrane protein 43, desmin and Lamin A/C.</p><p><b>RESULTS</b>Fifty-nine mutations were identified in 64% of the patients, among which, 93% were located in desmosomal protein genes. Plakophilin-2 mutations accounted for 54% of the total and 58% of the desmosomal mutations, with a truncating mutation type making up about 2/3 of the plakophilin-2 mutations. Only four mutations were found in non-desmosomal genes; two in transmembrane protein 43 and two in transforming growth factor beta-3. Two of them (one of each gene) appeared as single missense mutations. No mutation was identified in desmin or Lamin A/C. Multiple mutations were found in 23% of the patients, with plakophilin-2 being found in 57% of the multi-mutation carriers.</p><p><b>CONCLUSIONS</b>Plakophilin-2 was the most common gene mutation that was identified in Chinese ARVC patients. Non-desmosomal genes should be added to desmosomal protein genes when performing molecular genetic screening in patients with suspected ARVC.</p>

Genetic diagnosis of Liddle's syndrome by mutation analysis of SCNN1B and SCNN1G in a Chinese family / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Liddle's syndrome is a rare autosomal-dominant monogenic form of salt-sensitive hypertension. This study aimed to screen the gene mutation in β and γ subunits of the epithelial sodium channel (ENaC) of a Chinese family with Liddle's syndrome, an autosomal dominant form of hypertension.</p><p><b>METHODS</b>DNA samples from the proband with early-onset, treatment-resistant hypertension and suppressed plasma renin activity were initially screened for mutations in the C-terminal exons of the ENaC β or γ subunit genes, using amplification by polymerase chain reaction and direct DNA sequencing. We also screened the C-terminus of SCNN1B and SCNN1G in family members, and screened for the mutation in 150 controls.</p><p><b>RESULTS</b>Genetic analysis of the β ENaC gene revealed a missense mutation of CCC to TCC at codon 616 in the proband, her mother and her grandmother. One hundred and fifty randomly selected controls had not the mutation, indicating that this is not a common genetic polymorphism. There was no mutation of the γ ENaC gene in any of the individuals examined.</p><p><b>CONCLUSIONS</b>Through direct DNA sequencing analysis, we established the diagnosis of Liddle's syndrome for the proband and her families, and provided tailored therapies to this abnormality. These results provide further evidence that Pro616Ser is a critical amino acid that has a key role in the inhibition of sodium channel activity.</p>

Ghrelin receptor gene polymorphisms are associated with female metabolic syndrome in Chinese population / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The ghrelin plays an important role in the regulation of food intake and energy homeostasis. Therefore, the ghrelin receptor gene (GHSR) is an excellent candidate for studying metabolic syndrome. This study aimed to investigate whether polymorphisms in ghrelin receptor gene are associated with metabolic syndrome in Chinese population.</p><p><b>METHODS</b>Subjects consisted of 698 patients aged 41 to 80 years, diagnosed as metabolic syndrome by International Diabetes Federation (IDF) 2005 criteria, and 762 age- and gender-matched controls. Three variants within the GHSR were selected and genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Odds ratios were estimated using a case-control study design by controlling confounding factors.</p><p><b>RESULTS</b>The A/A genotype (rs2922126) in the promoter was associated with metabolic syndrome (OR 1.41, 95% CI 1.03-1.94), increased waist circumference (OR 1.75, 95% CI 1.26-2.42), and increased fast blood glucose (OR 1.49, 95% CI 1.07-2.06) in women. The A/A genotype (rs509030) in the intron was associated with lower plasma high density lipoprotein in women (OR 1.37, 95% CI 1.02-1.84).</p><p><b>CONCLUSION</b>The polymorphisms within GHSR might be a genetic risk factor for metabolic syndrome in women.</p>