Heterozygous desmin gene (DES) mutation contributes to familial dilated cardiomyopathy.

Familial dilated cardiomyopathy (FDCM) is characterized by high genetic heterogeneity and an increased risk of heart failure or sudden cardiac death in adults. We report the case of a 62-year-old man with a 2-month history of shortness of breath during activity, without paroxysmal nocturnal dyspnea. The patient underwent a series of examinations including transthoracic echocardiography, coronary arteriography, transesophageal echocardiography, and myocardial perfusion imaging. After excluding secondary cardiac enlargement, he was diagnosed with dilated cardiomyopathy (DCM). His sister had also been diagnosed with DCM several years before. Genetic sequencing analysis revealed that the patient, his sister, and his son all had the same mutation in the desmin gene (DES) (chr2-220785662, c.1010C>T). Genetic testing confirmed a heterozygous DES mutation contributing to FDCM. In this case, the etiology of the patient's whole-heart enlargement was determined as FDCM with DES gene mutation. This is the first report to describe DES c.1010C>T as a cause of FDCM.

Chronic massive pericardial effusion: a case report and literature review.

Chronic massive pericardial effusion without cardiac tamponade is relatively rare. Nearly half of all patients with chronic large pericardial effusion are asymptomatic. We report a case of a 77-year-old man who presented with an asymptomatic chronic massive pericardial effusion, with no evidence of cardiac tamponade or pericardial constriction during a 10-year follow-up. The patient had a complex history of lymph node tuberculosis, hypertension, hypothyroidism, and polycythemia vera, as well as high-dose 31P radiation exposure 45 years ago. There was no evidence of tuberculosis infection, hypothyroidism, malignant tumor, severe heart failure, uremia, trauma, severe bacterial or fungal infection, chronic myeloid leukemia, or bone marrow fibrosis after admission. The patient underwent pericardiocentesis twice. The pericardial effusion comprised exudate fluid with a high proportion of monocytes. The patient refused indwelling catheter drainage or pericardiectomy. The likely final diagnosis was recurrent chronic large idiopathic pericardial effusion.

Ginsenoside Re enhances the survival of H9c2 cardiac muscle cells through regulation of autophagy.

We examined the effect of ginsenoside Re (G-Re) on autophagy in H9c2 cardiomyocytes cultured in glucose deprivation (GD). Levels of the membrane-bound autophagy-related microtubule-associated protein 1A/1B-light chain 3 (LC3) B-2 were measured via immunoblotting and immunofluorescence was conducted to assess autophagosome formation. GD H9c2 cells were treated with 100 µmol/l G-Re. Cell viability was determined in culture medium. Phosphorylated 5' AMP-activated protein kinase (AMPK)-α and mammalian target of rapamycin (mTOR) levels were measured to explore the mechanisms underlying the effects of G-Re on autophagy in GD cells. G-Re treatment inhibited autophagosome formation and may be beneficial to GD cardiomyocytes.

Impact of chronic obstructive pulmonary diseases on left ventricular diastolic function in hospitalized elderly patients.

OBJECTIVE: To evaluate the impact of chronic obstructive pulmonary disease (COPD) on left ventricular (LV) diastolic function in hospitalized elderly patients. METHODS: This was a case-control observational study of 148 consecutive hospitalized elderly patients (≥65 years old): 73 subjects without COPD as controls and 75 patients with COPD. Mild-to-moderate COPD was defined as stages 1 and 2, while severe and very severe COPD was defined as stages 3 and 4, according to the Global Initiative for Chronic Obstructive Lung Disease guidelines. Clinical characteristics and echocardiographic parameters were analyzed and compared. RESULTS: Compared with the control group, patients with COPD had a higher frequency of LV diastolic dysfunction and heart failure with preserved ejection fraction. Smoking frequency, frequency of cerebrovascular diseases and diabetes, and serum N-terminal pro-B-type natriuretic peptide (NT-proBNP) levels were higher in the COPD group (all P<0.05). COPD patients showed more abnormalities in diastolic function (E/e': 11.51±2.50 vs 10.42±3.25, P=0.047), but no differences in systolic function and right ventricular function (all P>0.05). Patients with severe/very severe COPD showed no differences in LV diastolic function compared to patients with mild/moderate COPD (P>0.05), but serum NT-proBNP levels were higher in severe/very severe COPD (P<0.05). CONCLUSION: Results suggest that early-stage COPD may have an impact on the LV diastolic function. Severe COPD mainly affected right ventricular function. In hospitalized elderly patients with COPD, LV diastolic dysfunction should be taken into account together with right ventricular function.

Characteristics of non-valvular atrial fibrillation patients who benefit most from anticoagulation treatment.

OBJECTIVES: The objective was to determine who will benefit most from oral anticoagulation (OAC) for non-valvular atrial fibrillation (NVAF) patients aged ≥ 75 years. BACKGROUND: It was unclear whether all of NVAF aged ≥ 75 should receive OAC. METHODS: We recruited NVAF ≥ 75 years without QAC who were divided into three groups according to CHA2DS-VASc scores. The clinical endpoints were ischemic stroke (IS), thromboembolism (TE), or death. RESULTS: The patients with CHA2DS2-VASc score of 6-9 were not appropriate for anticoagulation with the highest HAS-BLED scores. CHA2DS2-VASc of 2 had little risk for IS/TE. We further divided CHA2DS2-VASc of 3-5 into three subgroups with estimated glomerular filtration rate (eGFR; ml/min/1.73 m(2)): < 30, 30-60, and > 60. The patients with eGFR < 30 had the highest bleeding risk with a comparable IS/TE. CONCLUSIONS: NVAF with CHA2DS2-VASc of 3-5 and eGFR > 30 ml/min/1.73 m(2) represent the most appropriate population for anticoagulation.

[Effects of mixed-tocopherols and eicosapentaenoic acid on oxidized LDL-induced oxidative damage and inflammatory cytokine secretion in human umbilical vein endothelial cells].

OBJECTIVE: To observe the influence of either alone or combined mixed-tocopherols combined with eicosapentaenoic acid (EPA) and α-Tocopherol use on oxidized LDL (oxLDL) induced 8-hydroxy-2'-deoxyguanosine (8-OHDG) and interleukin-6 (IL-6) secretion by human umbilical vein endothelial cells (HUVECs) and to explore the potential mechanism. METHOD: Cultured HUVECs in vitro were incubated with oxLDL, oxLDL + α-tocopherol, oxLDL + mixed-tocopherols, oxLDL + EPA, oxLDL + α-tocopherol + EPA, oxLDL + mixed-tocopherols + EPA for 24 hours, respectively. Secretion of 8-OHDG and IL-6 were detected by cell enzyme linked immunosorbent assay (ELISA). The expressions of superoxide dismutase (SOD), protein kinase C-δ (PKC-δ), phosphorylated PKC-δ (p-PKC-δ) were analyzed by Western blot. RESULTS: 8-OHDG and IL-6 secretion of HUVECs was significantly increased significantly after incubated with oxLDL for 24 hours which could be significantly attenuated in the presence of tocopherols and EPA (alone or in combination, all P < 0.05) while the strongest inhibition effects were seen with combined use of mixed-tocopherols and EPA. Moreover, combination of mixed-tocopherols and EPA could also significantly increase SOD activity and decrease PKC activity (all P < 0.05). However, the protein expression of SOD and PKC-was similar among groups. CONCLUSION: Combined mixed-tocopherols + EPA use enhanced the inhibiting effects on the secretion of 8-OHDG and IL-6 in oxLDL stimulated HUVECs which might be linked with increased SOD activity and reduced p-PKC activity.