Characteristics of four-limb blood pressure and brachial-ankle pulse wave velocity in Chinese patients with Takayasu arteritis.

Purpose: Takayasu arteritis (TA) is a rare disease, which is frequently misdiagnosed or its diagnosis can be missed. This study aimed to analyse the characteristics of four-limb blood pressure (4LBP) and brachial-ankle pulse wave velocity (baPWV) in patients with TA, which could be useful in disease detection.Materials and Methods: We consecutively enrolled 182 patients with TA at Fuwai Hospital between January 2013 and January 2016. Pulse pressure (PP), pulsatile index (PI), inter-arm systolic blood pressure (SBP) difference (IASBPD), inter-leg SBP difference (ILSBPD), ankle-brachial index (ABI), baPWV, and inter-side baPWV difference (ΔbaPWV) were analysed and compared with those of age-, sex-, and SBP-matched participants without cardiovascular diseases.Results: In the TA group, the diastolic blood pressure was lower (67.4 ± 23.7 vs 84.1 ± 15.0 mmHg), PP was larger (69.7 ± 23.6 vs 53.7 ± 10.6 mmHg), PI was higher (1.3 ± 2.1 vs. 0.6 ± 0.1 mmHg), IASBPD was larger (18.2 ± 24.1 vs 4.2 ± 3.3 mmHg), and ILSBPD was larger (10.7 ± 15.0 vs 5.3 ± 4.1 mmHg) than those of the controls (all p < 0.01). Moreover, the proportions of PP >70 mmHg (36.8% vs 4.4%), PI > 1.0 (40.1% vs 2.2%), IASBPD >15 mmHg (34.6% vs. 0%), highest ABI >1.4 (17.6% vs. 0%), ILSBPD >15 mmHg (14.8% vs. 3.3%), lowest ABI < 0.9 (24.7% vs 2.2%), and ΔbaPWV > 185 cm/s (28.6% vs. 1.1%) were significantly greater in the TA group than in the control group (all p < 0.01). Approximately 80.8% of patients with TA (vs. 10.4% of controls) presented with at least one of these seven parameters (p = 0.000).Conclusion: The characteristics of 4LBP and baPWV in most patients with TA were abnormal, which helped us perform non-invasive primary screening and comprehensive evaluation of vascular lesions in such patients.

In daily life, many people measure the blood pressure of the arm but measuring the blood pressure of a single arm is inadequate because some hypertension and vascular diseases cannot be detected this way. Synchronous limb blood pressure measurements may be used to close this gap. Measuring synchronous limb blood pressure is very convenient and helps patients understand the value of limb blood pressure and examine many other useful parameters, such as the blood pressure differences between the two arms and two legs, as well as the ankle arm index. These values and derived parameters can also help detect many vascular diseases.Takayasu arteritis is a rare disease in young women. However, the aorta and branches of these patients are narrow or occluded. Patients often experience vague and ambiguous symptoms, such as hypertension or dizziness, so they are likely to be overlooked or misdiagnosed.Our study summarises the results of synchronous limb blood pressure measurements in patients with Takayasu arteritis and compares their results with those of a control population. Synchronous limb blood pressure measurements are easy and convenient and can detect vascular problems, which may improve the ability to diagnose Takayasu arteritis.

Endovascular Treatment of Iliac Artery Stenosis Caused by Takayasu Arteritis: A 10-Year Experience.

Purpose: To evaluate the safety and efficacy of endovascular treatment for iliac artery stenosis caused by Takayasu arteritis (TA). Methods: Twenty-three consecutive TA patients (mean age 28.6±9.5 years; 17 women) with 30 iliac artery stenoses underwent percutaneous transluminal angioplasty (PTA) and selective stent implantation between January 2007 and December 2016. All had claudication (Rutherford category 2 or 3). The changes in the Rutherford category, ankle-brachial index (ABI), 6-minute walking capacity, and adverse events were assessed. Results: The success rate of endovascular therapy for iliac artery lesions was 93.3% (28/30). Guidewires could not cross either lesion in a patient with bilateral stenoses. Twenty-four lesions were treated by PTA alone and the other 4 lesions with provisional stents. One patient had a puncture site hematoma. Over an average of 4.8±3.3 years, 18 patients remained asymptomatic or had mild intermittent claudication. The other 4 patients developed moderate to severe intermittent claudication due to progression of a previously existing iliac lesion (n=1) or restenosis (n=3); all 4 underwent PTA. At the last follow-up, improvements were seen in the ABI (0.95±0.12 vs 0.51±0.22, p<0.001), 6-minute walking capacity (409.5±46.1 vs 272.6±32.3 m, p<0.001), and the Rutherford category of 22 patients. One patient died of a hemorrhagic stroke at 27 months due to uncontrolled hypertension. Conclusion: Endovascular therapy was safe and effective in treating TA patients with iliac artery stenosis, with good clinical outcomes in the long term.

Clinical outcomes and influencing factors of in-stent restenosis after stenting for symptomatic stenosis of the vertebral V1 segment.

OBJECTIVE: The objective of this study was to evaluate 30-day and long-term clinical outcomes and influencing factors of in-stent restenosis (ISR) after stenting for symptomatic stenosis of the vertebral V1 segment. METHODS: The clinical and follow-up data of 301 consecutive patients (mean age, 64 ± 8 years; 252 men) with symptomatic V1 stenosis who underwent stenting at the Fuwai Hospital between January 2010 and June 2016 were collected retrospectively. The 30-day and long-term follow-up of stroke and death after stenting and the recurrence of symptoms, ISR, and repeated revascularization were assessed. RESULTS: Technical success was 100%. The mean stenosis of lesions was reduced from 82.8% ± 7.6% to 4.4% ± 4.0% immediately after 312 stents (165 bare-metal stents [BMSs] and 147 drug-eluting stents) were implanted. The overall risk of combined any stroke and death was 1.0% (3/301) within 30 days after stenting. The rates of freedom from any stroke and death were 98.2%, 96.8%, and 91.4% at 1 year, 3 years, and 5 years, respectively. After a mean follow-up of 2.9 ± 1.5 years, 46 (15.8%) patients developed ISR, of whom 19 (6.5%) were symptomatic. Twenty-two (7.6%) patients with ISR underwent repeated revascularization. The primary and assisted patency rates were 90.0% and 95.4%, 82.6% and 90.3%, and 80.3% and 87.9% at 1 year, 3 years, and 5 years, respectively. BMS (hazard ratio, 2.02; 95% confidence interval, 1.01-4.06; P < .05) and diabetes (hazard ratio, 1.87; 95% confidence interval, 1.04-3.37; P = .04) were independently associated with an increased risk of ISR. CONCLUSIONS: Percutaneous stent placement for symptomatic V1 stenosis is safe and associated with a good long-term patency rate. BMS and diabetes are independent predictive factors of ISR.

Familial hypertrophic cardiomyopathy caused by a de novo Gly716Arg mutation of the ß-myosin heavy chain.

The present study was performed to identify the genotype of a hypertrophic cardiomyopathy family and investigate the clinicopathogenic characteristics and prognostic features of relevant genetic abnormalities. Target sequence capture sequencing was performed to screen for pathogenic alleles in a 32-year-old female patient (proband). Sanger sequencing was carried out to verify the results. Sanger sequencing was also performed on other family members to identify allele carriers. A survival analysis was carried out using published literature and our findings. We found that the proband and her son harboured a Gly716Arg sequence variant of the ß-myosin heavy chain. Neither the proband's father nor the mother were carriers of this sequence variant; thus, the mutation was classified as "de novo". Further survival analysis revealed that female patients appear to have a longer life expectancy compared with males. Our study may provide an effective approach for the genetic diagnosis of hypertrophic cardiomyopathy.

Stenting for left subclavian artery stenosis in patients scheduled for left internal mammary artery-coronary artery bypass grafting.

OBJECTIVES: To evaluate the early and long-term outcomes of stent placement for left subclavian artery stenosis (LSAS) in patients scheduled for left internal mammary artery-coronary artery bypass grafting (LIMA-CABG). BACKGROUND: Few studies have demonstrated the safety and effectiveness of endovascular therapy for the treatment of LSAS before LIMA-CABG; therefore, use of this therapy requires further exploration and evaluation. METHODS: Between February 2000 and April 2014, the clinical data of 167 consecutive patients (mean age 64 ± 9 years, 141 males) scheduled for LIMA-CABG with LSAS who were treated by stenting at the Fuwai Hospital were collected and analyzed retrospectively. RESULTS: The technical success rate of the procedure was 97.6% (163/167). The mean stenosis of target lesions decreased from 86.5 ± 9.9% to 7.6 ± 4.6% (P < 0.001). The incidences of death, stroke, and myocardial infarction, as well as the combined incidence of death, stroke, and myocardial infarction from the time of stenting to 30 days after the stenting procedure were 0.6% (n = 1), 1.8% (n = 3), 0% (n = 0), and 1.8% (n = 3), respectively. The 10-year rate of follow-up was 94.6%. The overall survival rate was 98.8% at 1 year, 97.5% at 2 years, 93.9% at 5 years, and 86.2% at 10 years. A total of 14.1% (23/163) of patients developed in-stent restenosis. Stent restenosis-related angina and myocardial infarction were observed in 13 and 3 patients, respectively. The patency rates of the left subclavian artery were 95.7, 93.8, 86.5, and 75.2% at 1, 2, 5, and 10 years, respectively. The target vessel reconstruction rate was 8.0% (13/163). CONCLUSIONS: Stenting of LSAS at experienced medical centers for patients scheduled for LIMA-CABG was safe and effective with a low incidence of complication and in-stent restenosis.

Simultaneous Bilateral vs Unilateral Carotid Artery Stenting: 30-Day and 1-Year Results.

PURPOSE: To evaluate clinical outcomes of simultaneous bilateral carotid artery stenting (sbCAS) compared with unilateral CAS (uCAS). METHODS: The database in our institution was queried to identify all patients treated with CAS from January 2005 to December 2012. In this time frame, 120 (18.8%) patients (mean age 64.9 ± 7.7 years; 96 men) underwent sbCAS and 517 (81.2%) patients (mean age 65.7 ± 7.7 years; 421 men) received uCAS. The primary endpoint was the composite of stroke, myocardial infarction, or death within 30 days or any ipsilateral stroke within 1 year. RESULTS: There was no significant difference in the rates of the primary endpoint between the sbCAS and uCAS groups (6.7% vs 4.6%, p=0.358). The rates of the primary endpoint among symptomatic patients was 8.0% in the sbCAS group and 5.0% in the uCAS group (p=0.299) and 3.1% and 4.0%, respectively (p=0.821) among asymptomatic patients. During the 30-day periprocedural period, the rates of the primary endpoint did not differ significantly between the sbCAS and uCAS groups among all patients (5.8% vs 4.4%, p=0.479), symptomatic patients (6.8% vs 5.0%, p=0.594), or asymptomatic patients (3.1% vs 3.5%, p>0.999). After this period, the incidences of any ipsilateral stroke were similarly low (0.8% and 0.2%, respectively; p=0.342). CONCLUSION: The study showed that simultaneous bilateral CAS had no more adverse events than unilateral CAS during the periprocedural period or within 1 year. This 1-stage strategy may become a valuable alternative in the treatment of patients with severe bilateral carotid stenosis.

Different clinical characteristics and outcomes of hypertrophic cardiomyopathy with and without hypertension: seeking the truth.

OBJECTIVE: To determine the different clinical characteristics and outcomes of hypertrophic cardiomyopathy (HCM) patients with and without hypertension (HT). METHODS: A total of 696 HCM patients were included in this study and all HCM diagnoses were confirmed by the genetic test. Patients were analyzed separately in the septal reduction therapy (SRT) cohort and the non-SRT cohort. The primary endpoint was cardiovascular death and the secondary endpoint was all-cause death. Outcome analyses were conducted to evaluate the associations between HT and outcomes in HCM. Medications before enrollment and at discharge were collected in the post-hoc analyses. RESULTS: HCM patients without HT were younger, had a lower body mass index, were more likely to have a family history of HCM, and had a smaller left ventricular (LV) end-diastolic diameter than those with HT in both cohorts. A thicker LV wall, a higher level of N-terminal pro-B-type natriuretic peptide, and a higher extent of LV late gadolinium enhancement were additionally observed in patients without HT in the non-SRT cohort. The presence of HT did not alter the distribution pattern of late gadolinium enhancement, as well as the constituent ratio of eight disease-causing sarcomeric gene variants in both cohorts. Outcome analyses showed that in the non-SRT cohort, patients without HT had higher risks of cardiovascular death (HR = 2.537, P = 0.032) and all-cause death (HR = 3.309, P = 0.032). While such prognostic divergence was not observed in the SRT cohort. Further post-hoc analyses in the non-SRT cohort found that patients without HT received fewer non-dihydropyridine calcium channel blockers and angiotensin-converting enzyme inhibitors/angiotensin receptor blockers before enrollment and at discharge. CONCLUSIONS: HCM patients without HT had worse clinical conditions and higher mortality than patients with HT overall, which may result from active medical therapy in HT patients. Active SRT may have a substantial de-risking effect on patients meeting the indications.

Prevalence and clinical characteristics of renovascular hypertension associated with fibromuscular dysplasia in China.

OBJECTIVES: The aim of this study was to investigate the clinical characteristics of renal artery fibromuscular dysplasia (FMD) in patients in China and identify the cure rate of hypertension after angioplasty. METHODS: Consecutive hypertensive patients with renal artery stenosis caused by FMD who underwent catheter-based angiography, and were followed at two Chinese referral centres, were retrospectively analysed. All patients underwent a detailed investigation, including demographic characteristics, clinical characteristics, biochemical sampling, Doppler ultrasonography of carotid arteries, magnetic resonance angiography (MRA) of the intracranial artery, and CTA or MRA of the abdominal artery and catheter-based renal angiography. Patients were routinely followed up at 1 month, 6 months and every year after the procedure. RESULTS: Among 245 study participants, with a mean diagnosed age of 26.9 ±â€Š9.9 years, 137 (55.9%) were women, and 38 (15.5%) were children. All patients were diagnosed with hypertension at a mean age of 23.4 ±â€Š8.4 years. There were 73.5% focal and 15.2% multivessel cases. Aneurysms, arterial dissections and total occlusions were found in 21.6, 4.1 and 12.2% of patients, respectively. Patients with multifocal FMD were older (26.0 vs. 23.7 years, P  = 0.021) and more often female (70.8 vs. 50.6%, P  = 0.004). Among children with renal FMD, 55.2% were men, and 86.8% were focal. After a median follow-up of 7.0 years, multifocal FMD had a higher cure rate of hypertension than focal FMD after revascularization (71.7 vs. 55.8%, P  = 0.032). CONCLUSION: In a cohort of mostly young Chinese patients, the prevalence of hypertension associated with renal FMD is similar in both sexes. Focal FMDs were more frequent than the multifocal ones and, after angioplasty, were associated with a worse blood pressure outcome.

[Comparison of clinical characteristics of Chinese patients with apical hypertrophic cardiomyopathy and typical hypertrophic cardiomyopathy].

OBJECTIVE: To evaluate the clinical features in Chinese patients with apical hypertrophic cardiomyopathy (AHCM) and typical hypertrophic cardiomyopathy (HCM). METHODS: This retrospective analysis included 160 patients hospitalized in Fuwai hospital. Patients were divided into three groups: apical hypertrophic cardiomyopathy (AHCM, n = 41) group, non-obstructive typical hypertrophic cardiomyopathy group [NOHCM, LVOT < 30 mm Hg (1 mm Hg = 0.133 kPa) at rest, n = 52] and obstructive typical hypertrophic cardiomyopathy (OHCM, LVOT ≥ 30 mm Hg at rest, n = 67). Clinical features, diagnosis, therapy, and plasma levels of biomarkers of these three groups were analyzed. RESULTS: (1) The age at disease onset was older in AHCM group than in OHCM group [(49.9 ± 13.6) years vs. (41.4 ± 14.6) years, P < 0.01]. Exertional dyspnea appeared more often in HCM patients than in AHCM patients, NT-proBNP level was significantly lower in AHCM patients than in OHCM patients (P = 0.001). Plasma CK-MB, LDH, TnI and MYO levels were similar among the three groups. (2) Thirty-three AHCM patients were first hospitalized for suspected coronary heart disease (CHD) and CHD was excluded in 18 cases (43.9%). (3) The frequency of giant negative T waves (depth ≥ 10 mm) on ECG was 43.9%, 13.5% and 4.4% (P < 0.01) in AHCM, NOHCM and OHCM respectively. Half of AHCM patients showed left ventricular high voltage on ECG. (4) Cardiac magnetic resonance imaging is superior to echocardiography on correctly diagnosing AHCM. CONCLUSION: AHCM patients differ from typical OHCM patients in clinical characteristics. There were significant differences on echocardiography and electrocardiography features among three groups. Cardiac magnetic resonance imaging and giant negative T waves on ECG are helpful for the diagnosis of AHCM.

The circulating level of miR-122 is a potential risk factor for endothelial dysfunction in young patients with essential hypertension.

MicroRNAs are key molecules involved in the regulation of endothelial function. They are important risk factors and biomarkers for the development of hypertension related to endothelial dysfunction. However, the gene expression patterns associated with hypertension development related to endothelial dysfunction have not been fully elucidated. We conducted a case-control study of 65 patients with essential hypertension (EH) and 61 controls without EH. Plasma levels of miR-122 and its target protein high-affinity cationic amino acid transporter 1 (CAT-1) were measured by qRT-PCR and ELISA, respectively. miR-122 expression in plasma of patients with EH was significantly higher than that of the control group (p = 0.001), while CAT-1 expression in patients with EH was significantly lower than that in the control group (p = 0.018). miR-122 expression in plasma of young patients with EH was significantly higher than that in young people without EH (p = 0.0004), and CAT-1 expression in plasma of young patients with EH was also significantly lower than that of the control group (p = 0.002). CAT-1 expression in the plasma of young participants was significantly higher than that of individuals aged ≥40 years (p = 0.003), whereas miR-122 expression was significantly lower (p = 0.001). We showed that among patients with EH, the high expression of miR-122 contributed to endothelial dysfunction by suppressing the expression of the CAT-1 protein, which led to a decrease in CAT-1 expression in plasma. Therefore, high expression of miR-122 appears to be a risk factor for endothelial dysfunction in EH, especially in younger patients.

[The genotype-phenotype correlation of the MYH7 gene c.1273G > a mutation in familial hypertrophic cardiomyopathy].

To investigate the genotype-phenotype correlation in Chinese familial hypertrophic cardiomyopathy (HCM), peripheral blood samples were collected from 7 members of a Chinese HCM family, and 120 normal subjects were recruited as control. The full encoding exons and flanking sequences of the cardiac troponin T (TNNT2) gene, beta-myosin heavy chain (MYH7) gene and myosin binding protein C (MYBPC3) gene were amplified and the products were sequenced directly to detect the mutations. A missense mutation, c.1273G>A, was identified in exon 14 of the MYH7 gene in 4 members of the Chinese HCM family, which resulted a glycine (Gly) to arginine (Arg) exchange at amino acid residue 425. The 425th glycine amino acid residue is highly conservative across the different species. The clinical phenotypes among the family members who carried this mutation presented significant individual differences. The c.1273G>A mutation of the MYH7 gene might be the causal mutation of the familial HCM. The heterogeneity of phenotypes suggested that multiple factors may be involved in the pathogenesis of HCM.

[A novel hot-spot mutation S236G in the cardiac myosin binding protein C gene in Chinese patient with hypertrophic cardiomyopathy].

OBJECTIVE: To identify the disease-causing gene mutations and to reveal the relationship between the genotype and the phenotype in Chinese patients with hypertrophic cardiomyopathy (HCM). METHODS: One hundred unrelated patients with HCM and 120 controls were enrolled in this study. The full encoding exons and flanking sequences of the cardiac myosin binding protein C gene (MYBPC3) were amplified with PCR and the products were sequenced. RESULTS: A novel missense mutation c.706T > C was identified in exon 6 of MYBPC3 gene in three HCM patients, which resulted a Serine (S) to Glycine (G) exchange at amino acid residue 236 (S236G). The clinical phenotypes of the three patients were different (2 obstructive HCM, 1 non-obstructive HCM). The 120 controls were normal in the genetic test. CONCLUSIONS: The novel S236G mutation in MYBPC3 gene was a hot-spot mutation in Chinese patients with HCM.

The era of clinical application of gene diagnosis in cardiovascular diseases is coming.

Gene diagnosis refers to the use of genetic testing in the diagnosis of inheritable conditions, which has gradually been applied in clinical practice with the completion of the gene sequencing efforts of the Human Genome Project and the advancement of gene detection technology. In the specialty field of cardiology, monogenic cardiovascular diseases are defined as monogenic inherited diseases with cardiovascular damage as the only phenotype, or accompanied by cardiovascular damage. Although the incidence of such diseases is relatively low, in the country of China with its vast population of 1.33 billion, the sheer volume of patients with monogenic cardiovascular diseases is alarming. With early onset, severe symptoms, and poor prognosis, delays in diagnosis and treatment of monogenic cardiovascular diseases often have serious consequences. Gene testing is perfectly suited for early diagnosis of monogenic cardiovascular diseases, especially for "pre-symptomatic" diagnosis. In this article, we generally review the characteristics of common monogenic cardiovascular diseases, summarize the progress of the standardized application of gene testing technology in clinical practice, describe the applicable population and condition of genetic testing for different monogenic cardiovascular diseases, analyze the practicality of genetic diagnosis of these inheritable conditions, and provide guidance on identifying suitable candidates for gene diagnosis. In conclusion, gene diagnosis provides new insights into the way physicians diagnose diseases, and is well-positioned to guide clinical decision making and treatment, especially in cardiology.

Polymorphisms of angiotensin-converting enzyme 2 gene associated with magnitude of left ventricular hypertrophy in male patients with hypertrophic cardiomyopathy.

BACKGROUND: Even carrying an identical gene mutation, inter- and intra-family variations have been noticed worldwide in the presence and the severity of left ventricular hypertrophy and sudden death in patients with hypertrophic cardiomyopathy (HCM). Modifier genes may contribute to the diversity. Angiotensin-converting enzyme 2 (ACE2) gene has been established to be associated with parameters of left ventricular hypertrophy in community based male subjects. The objective of the present study was to investigate the association of ACE2 gene polymorphisms with the phenotype of HCM. METHODS: A total of 261 consecutive HCM patients and 609 healthy controls were enrolled into this study. The polymorphism of rs2106809 and rs6632677 were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and confirmed by sequencing. Logistic regression model and multivariate analysis were used to determine the odds ratio (OR) and 95% confidence intervals (CI) of variations of ACE2 for HCM. RESULTS: The T allele of rs2106809 and C allele of rs6632677 conferred increasing risk for HCM (OR 1.34, 95% CI 1.01 - 1.77, P = 0.04; OR 1.11, 95% CI 1.03 - 1.21, P = 0.002, respectively), and the 2 single nucleotide polymorphisms (SNPs) were in strong linkage disequilibrium (LD), the TC haplotype was independently associated with a higher OR for HCM (OR = 1.59, 95% CI 1.21 - 1.87) after adjusted for conventional risk factors. And the risk alleles were associated with thicker interventricular septal thickness of HCM ((20.0 +/- 6.3) mm vs (17.9 +/- 5.5) mm, P = 0.03 and (21.3 +/- 5.9) mm vs (17.9 +/- 5.8) mm, P = 0.04, respectively). No association was found between the two polymorphisms with female patients with HCM. CONCLUSION: Minor alleles of ACE2 gene might be the genetic modifier for the magnitude of left ventricular hypertrophy in male patients with HCM.

[Genetic heterogeneity of myosin heavy chain 7 gene G823E mutation in familial hypertrophic cardiomyopathy in Chinese].

OBJECTIVE: To study the disease-causing gene mutations in familial hypertrophic cardiomyopathy (HCM) in Chinese and to reveal the relationship between the genotype and the phenotype. METHODS: Peripheral blood samples were collected from 12 members of a HCM family, and 120 healthy volunteers in China. PCR and double deoxygenation chain termination method were used to analyze the cardiac troponin T gene (TNNT2), beta-myosin heavy chain gene (MYH7) gene and myosin binding protein C gene (MYBPC3) and to detect mutations. RESULTS: Mutation G14452A was identified in exon 22 of MYH7 gene in 4 family members, causing the conversion of glycine (G) into glutamic acid (E). The onset ages and clinical manifestations of the family members carrying the mutation G823E, including 2 patients (the proband, male, with the onset age of 51, and his 26-year-old second son with the onset age of 20), and 2 carriers (his 31-year-old elder son and 29-year-old elder daughter), presented significant individual differences. CONCLUSIONS: The G823E mutation of MYH7 gene is the causal mutation of familial HCM. The heterogeneity of phenotypes suggests that multiple factors may be involved in the pathogenesis of HCM.

[The genotype-phenotype correlation of MYH7 gene G15391A mutation and MYBPC3 gene G12101A mutation in familial hypertrophic cardiomyopathy].

OBJECTIVE: To reveal genotype-phenotype correlation of disease-causing gene mutations in Chinese hypertrophic cardiomyopathy (HCM) pedigree. METHODS: Peripheral venous blood samples were collected from two Chinese HCM families and 120 healthy subjects were recruited as normal control. The full encoding exons and flanking sequences of the cardiac troponin T gene (TNNT2), beta-myosin heavy chain gene (MYH7) and myosin binding protein C gene (MYBPC3) were amplified with the polymerase chain reaction method, DNA sequencing was used to detect the mutation. RESULTS: In ZZJ family, mutation G12101A was identified in exon 21 of MYBPC3 gene in 4 family members [the arginine (R) converted to histidine (H)]. In this pedigree, three out of eight family members were diagnosed as HCM and with a penetrance of 75%. In FHL family, mutation G15391A was identified in exon 23 of MYH7 gene in 3 family members [the glutamic acid (E) converted to lysine (K)]. In this pedigree, three out of six family members were diagnosed as HCM and with a penetrance of 100%. Echocardiography showed obstruction of left ventricular outflow tract in two out of the three HCM patients. CONCLUSIONS: Our results showed that the G12101A mutation of MYBPC3 gene is the causal mutation of familial HCM with mild phenotype. The G15391A mutation of MYH7 gene is the causal mutation of familial HCM with malignant phenotype and a penetrance of 100%. Screening mutations in the MYH7 gene should be viewed as a reasonable procedure in obstructive HCM patients.

Time trends regarding the etiology of renal artery stenosis: 18 years' experience from the China Center for Cardiovascular Disease.

The time trends regarding the etiology of renal artery stenosis (RAS) are changing, but few investigations have focused on these issues. This study aimed to analyze the time trends regarding the etiology of RAS in a large patient sample from the China Center for Cardiovascular Disease. Consecutive inpatients with RAS from January 1999 to December 2016 were enrolled in this study. The etiologic diagnosis of RAS was based on established criteria. We retrospectively analyzed the time trends regarding the etiology of RAS during an 18-year period. A total of 2905 patients with RAS were enrolled. There were 2393 (82.4%) patients with atherosclerosis (AS), 345 (11.9%) with Takayasu arteritis (TA), 126 (4.3%) with fibromuscular dysplasia (FMD), and 41 (1.4%) with other causes. Among all patients (n = 2905), patients aged ≤ 40 years (n = 450), patients aged >40 years (n = 2455), female patients (n = 1097), male patients (n = 1808), female patients aged >40 years (n = 808), and male patients aged >40 years (n = 1647), there were a gradual increase in the proportion of atherosclerotic RAS (P < 0.05), a gradual decrease in the proportion of RAS caused by TA (P < 0.05), and almost no change in the proportion of RAS caused by FMD during the 18-year period (P > 0.05). The data show that the primary causes of RAS are AS, TA, and FMD. The proportion of RAS caused by AS and TA gradually increased and decreased, respectively, over time, and the proportion of RAS caused by FMD showed no significant change.

Nephrotoxicity of iodixanol versus iopamidol in patients undergoing peripheral angiography with or without endovascular therapy.

PURPOSE: To compare the nephrotoxic effects of iodixanol and iopamidol in patients undergoing peripheral angiography. METHODS: Patients scheduled for peripheral angiography were randomly assigned to the iodixanol group (n = 463) and iopamidol group (n = 458). The primary endpoint was the incidence of contrast associated acute kidney injury (CA-AKI), which was defined as an increase ≥ 25% or ≥ 44.2 µmol/l (0.5 mg/dl) in serum creatinine (SCr) from baseline within 72 h after receiving contrast media (CM). The secondary endpoints were the mean peak SCr increase within 72 h after receiving CM and major adverse renal events (SCr increased by two times after 30 days, the need for dialysis treatment, rehospitalization for acute renal failure, or kidney-related death) during hospitalization and within 30 day postdischarge. RESULTS: The incidence of CA-AKI did not differ significantly between the iodixanol group and iopamidol group (18.1% vs. 16.8%; p = 0.595). There was no significant difference in the mean peak SCr increase between the iodixanol group and iopamidol group (10.4 ± 13.0 vs. 10.6 ± 14.3 µmol/l, p = 0.919). There were four patients [1 (0.2%) patient in the iodixanol group and 1 (0.7%) patients in the iopamidol group, p = 0.609] with doubling of SCr; no other adverse renal events were observed. CONCLUSIONS: Our data showed that the nephrotoxicity of iodixanol was comparable with that of iopamidol in patients undergoing peripheral angiography.