A Case Report of Fabry Disease Associated with Dermatomyositis / 罕见病研究

Fabry disease is an X-linked lysosomal storage disease, and its pathogenesis is the deficient of α-galactosidase A (α-Gal A) activity caused by GLA mutation, which leads to accumulation of the glycosphingolipid globotriaosylceramide (Gb-3) and other glycosphingolipids in the lysosome of cells, resulting in the dysfunction of relevant tissues and organs. We report the clinical characteristics of a case of Fabry disease with dermatomyositis. The patient, a 61-year-old male, presented with intermittent amaurosis, limb weakness and dyspnea on exertion. Based on the low α-Gal A activity and positive anti-myositis antibodies, diagnosis of Fabry disease with dermatomyositis were confirmed. We reviewed the relevant literature and found that co-existence of Fabry disease and autoimmune diseases was very rare, but it is not rare for patients with Fabry disease to have some autoimmune antibody positive, suggesting that Fabry disease and autoimmune diseases may be related in pathogenesis.

Prevention of sudden cardiac death in patients with ejection fraction reduced heart failure receiving ICD implantation / 中国实用内科杂志

OBJECTIVE: By recording the treatment events of implantable cardioverter defibrillator(ICD) in patients with ejection fraction reduced heart failure(HFrEF), to analyze the difference in primary and secondary prevention patients. METHODS: A single center retrospective study was conducted. HFrEF patients with ICD or cardiac resynchronization therapy with cardioverter defibrillator(CRT-D) implanted in Peking Union Medical College Hospital from January 2006 to December 2017 were enrolled in our study. Basic clinical data was collected and ICD treatment events were recorded during follow-up. The appropriate treatment events were identified according to electrocardiogram recorded by ICD. The ICD treatment events of primary and secondary prevention patients were analyzed. RESULTS: 1) A total of 145 patients with HFrEF implanted with ICD or CRT-D were enrolled, 103 primary prevention patients and 42 secondary prevention patients. Primary prevention patients had longer left ventricular end-systolic diameter(LVESD) and lower left ventricular ejection fraction(LVEF) than secondary prevention patients. 2) Multivariate competitive risk regression analysis showed that secondary prevention patients and male patients had higher risk of receiving appropriate treatment and appropriate shock therapy. 3) K-M curve and Log-Rank test showed that there was no significant difference in the risk of inappropriate treatment between primary and secondary prevention patients. The main cause of inappropriate treatment was atrial flutter or atrial fibrillation. CONCLUSION: 1) Primary prevention patients have lower risk of receiving appropriate treatment and appropriate shock therapy than secondary prevention patients; 2) There is no significant difference between primary and secondary prevention patients in the risk of inappropriate treatment. The main cause of inappropriate treatment events is atrial flutter or atrial fibrillation.

Association between the ratio of early diastolic transmitral velocity to early diastolic mitral annular velocity and invasive measured left atrial pressure in patients with atrial fibrillation and preserved left ventricular ejection fraction / 中华心血管病杂志

Objective@#To evaluate the association between the ratio of early diastolic transmitral velocity to early diastolic mitral annular velocity (E/E') and left atrial pressure (LAP) estimated from invasive catheter measurements in patients with atrial fibrillation (AF).@*Methods@#A total of 46 consecutive patients with non-valvular AF and preserved left ventricular ejection fraction (LVEF) admitted in our department to receive the first radiofrequency ablation from May to July 2017 were included. All patients underwent echocardiography at 24-48 hours before radiofrequency ablation, and LAP was invasively measured during the ablation procedure. According to mean LAP, patients were divided into 2 groups of normal LAP (LAP≤12 mmHg(1 mmHg=0.133 kPa, n=31) and elevated LAP (LAP>12 mmHg, n=15). Linear correlation analysis was used to evaluate the relationship between E/E' and LAP.@*Results@#E/E' correlated well with LAP (septal E/E' (E/E'sep), r= 0.397, P=0.006; lateral E/E' (E/E'lat), r=0.433, P=0.003; mean E/E' (E/E'mean), r=0.431, P=0.003). Using receiver operating characteristic analysis, the optimal cut-off for E/E'sep was 12.5 (sensitivity 73.3%, specificity 67.7%), E/E'lat was 10.8 (sensitivity 80.0%, specificity 77.4%), E/E'mean was 11.0 (sensitivity 86.7%, specificity 64.5%) to predict mean LAP>12 mmHg.@*Conclusion@#E/E', especially the E/E'lat, is positively correlated with LAP in patients with AF and preserved LVEF, and may be used to estimate the diastolic function in AF patients with preserved LVEF.

Ventricular arrhythmias originating from left ventricle posterior papillary muscle:electrocardiographic characteristics and catheter ablation / 中国介入心脏病学杂志

Objective To investigate the clinical characteristics, electrocardiography, electrophysiological features and the eff ectiveness of catheter ablation of ventricular arrhythmias originating from left ventricle posterior papillary muscles. Methods Clinical features and electrocardiography of 16 patients with ventricular arrhythmias arising from left ventricular posterior papillary muscles underwent catheter ablation were retrospectively analyzed. Activation mapping and/or pace mapping were performed to identify the site of origin and transthoracic echocardiography were used to demonstrate ablation catheter position and contact. The immediate success and recurrence rates were evaluated. Results During arrhythmias, QRS wave duration of 16 patients [5 men, mean age (45.0±18.2) years] was (155.1±9.0)ms. The prevalence of R>r' and r<R' of V1QRS morphology was 6/16 and 9/16, respectively. Earliest local ventricular electrogram preceded QRS wave by (30.8±8.4)ms at successful ablation site. Immediate success were achieved in 14 patients (14/16) ,11 patients(11/16) had full clinical follow-up and recurrences occurred in 5 patients (5/11). Conclusions Electrocardiography of ventricular arrhythmias originating from left ventricular posterior papillary muscles has its specifi c features. Earliest focal electrogram indicates successful ablation site and transthoracic echocardiography can demonstrate ablation catheter position and increase success rate but recurrence rate is still high.

Causes of insufficient anticoagulation in Chinese patients with non-valvlar atrial fibrillation / 中华心血管病杂志

<p><b>OBJECTIVE</b>To evaluate the factors responsible for the insufficient application of oral anticoagulation (OAC) in Chinese patients with non-valvular atrial fibrillation.</p><p><b>METHODS</b>The research is a single center registration study in a tertiary referral hospital in Beijing. The general characteristics, history of atrial fibrillation, comorbidities and anticoagulation treatment were obtained from all patients.Factors affecting the oral Walfarin use were evaluated by univariable and multivariable regression analysis.</p><p><b>RESULTS</b>OAC therapy with Walfarin was applied on Only 214(39.4%) out of 576 consecutive patients with non-valvular atrial fibrillation. The OAC rate was 30.3% among non-ablation patients. Patients with persistent atrial fibrillation, diabetes, chronic heart failure, history of ischemic stroke/TIA and higher CHA2DS2-VASc score were more likely prescribed with Walfarin. Multivariable regression analysis showed that persistent fibrillation, history of chronic heart failure, ischemic stroke/TIA and non-coronary heart disease predicted the treatment with Walfarin.</p><p><b>CONCLUSIONS</b>OAC use is extremely low in Chinese patients with non-valvular atrial fibrillation. More efforts are warranted to improve OAC use in these patients.</p>

Importance of endomyocardial biopsy in unexplained cardiomyopathy in China: a report of 53 consecutive patients / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Although endomyocardial biopsy (EMB) plays a crucial role in the final diagnosis in patients with heart failure of unknown etiology, the invasive nature of this technique limits its clinical application in China. The purpose of this study was to evaluate the clinical application of EMB in diagnosing cardiomyopathy with unexplained etiologies in China.</p><p><b>METHODS</b>Fifty-three consecutive patients (38 males, age 14 - 67 years, median 43 years) were included in the study who were initially diagnosed as unexplained cardiomyopathy and under EMB biopsy in Peking Union Medical College Hospital from 2006 to 2009. The patients were clinically divided into four groups: dilated, hypertrophic, restrictive and unclassified cardiomyopathy. Biopsies were performed via right internal jugular vein with the use of the bioptome under fluoroscopic guidance. Three to five endomyocardial samples were taken from each patient for light microscopy examination and one sample for electron microscopy was taken if necessary. For each patient, an initial clinical diagnosis, an EMB diagnosis and a final diagnosis prior to discharge were established. All the data were compared and analyzed for the evaluation of clinical utility of EMB in China.</p><p><b>RESULTS</b>In 26 patients initially diagnosed with restrictive cardiomyopathy (RCM), the etiology of the condition was finally diagnosed using EMB in 15; including 13 amyloidosis and two eosinophilic myocarditis. We employed EMB in 19 patients clinically diagnosed as dilated cardiomyopathy and detected viral myocarditis in one patient, cardiac involvement due to polymyositis in four and doxorubicin-induced cardiomyopathy in one. In five patients with severe left ventricle hypertrophy undergoing EMB, one patient was diagnosed as autophagic vacuolar cardiomyopathy and one as mitochondrial disease. In the remaining three patients with unclassified cardiomyopathy, EMB revealed infiltration of eosinophils as the cause of atrial ventricular block in one patient. Final diagnoses were made in 24 of the total 53 patients (45%) based on the combination of EMB and clinical data. Transient atrial ventricular block in a patient with prior complete left bundle branch block was the only complication occurred during the procedures.</p><p><b>CONCLUSION</b>The clinical application of EMB is safe. The combination of EMB and clinical data produced a better understanding of the mechanisms behind the clinically diagnosed cardiomyopathy in China.</p>

Primary prevention of sudden cardiac death by implantable cardioverter-defibrillator therapy in Chinese patients with heart failure: a single-center experience / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>An implantable cardioverter-defibrillator (ICD) has been suggested for heart failure patients for primary prevention of sudden cardiac death. However, few data have been reported on the application of ICD as primary prevention of sudden cardiac death in China. We evaluated the value of primary prevention ICD therapy in Chinese patients with heart failure.</p><p><b>METHODS</b>Thirty-four patients at an average age of (60.2 +/- 13.7) years seen in Peking Union Medical College Hospital were treated with ICD implantation for primary prevention of sudden cardiac death from November 2005 to July 2009. Single-chamber ICDs were implanted in 16 (47.0%) cases, and dual-chamber or cardiac resynchronization therapy defibrillators in 18 (53.0%) cases. The patients had an average left ventricular ejection fraction of (26.9 +/- 5.5)% (11% to 35%), of which 18 (53.0%) patients had ischemic cardiomyopathy and 16 (47.0%) patients had non-ischemic cardiomyopathy. All patients were followed up at three months after the implantation and every six months thereafter or when prompted by an ICD event.</p><p><b>RESULTS</b>There were five (14.7%) deaths, including two of heart failure and three with a non-cardiac course, during an average follow-up of (15.0 +/- 11.9) months. Forty-one ICD therapy events were recorded, including 19 (46.3%) appropriate ICD therapies in six patients and 22 (53.7%) inappropriate ICD therapies in four patients with single chamber leads. Inappropriate ICD therapies were mainly due to supraventricular tachyarrhythmias, especially atrial fibrillation. Patients with ischemic cardiomyopathy and non-ischemic cardiomyopathy did not differ in the incidence of either appropriate or inappropriate therapy.</p><p><b>CONCLUSIONS</b>ICD for primary prevention of sudden cardiac death in China prevents patients from arrhythmia death. Relatively high incidence of inappropriate therapies highlights the importance of an atrial lead.</p>

Clinico-pathological evaluation of restrictive cardiomyopathy / 中华心血管病杂志

<p><b>OBJECTIVE</b>restrictive cardiomyopathy (RCM) is characterized by impairment of ventricular filling during diastole with preserved systolic function. The clinical and histopathological profile on endomyocardial biopsy of 25 consecutive patients with RCM was analyzed in this study.</p><p><b>METHODS</b>twenty-five patients with diagnosis of RCM and underwent endomyocardial biopsy (EMB) were enrolled in the study. The clinical characteristics, electrocardiogram, serum chemistry, right heart catheter and cardiac pathology results were obtained.</p><p><b>RESULTS</b>heart failure symptom was present in all 25 patients and left ventricular size and function were normal or near normal while serum brain natriuretic peptide (577 pg/ml) was moderately elevated. Right atrial and ventricular end-diastolic as well as pulmonary capillary wedge pressures derived from right heart catheter examination were increased. Amyloid deposition were evidenced in 16 and eosinophilic myocarditis in 2 patients upon pathological examination of EMB. In the remaining 7 patients, 3 were diagnosed idiopathic RCM, 2 were diagnosed as amyloidosis by biopsy from non-cardiac tissue and etiology remained unknown in 2 patients. Thus, conclusive diagnosis was made on EMB samples in 84% (21/25) patients of RCM.</p><p><b>CONCLUSION</b>RCM may result from various local and systemic disorders. EMB is helpful for identifying the underlying etiology.</p>

Electrocardiographic and echocardiographic features of patients with primary cardiac amyloidosis / 中华心血管病杂志

<p><b>OBJECTIVE</b>To summarize the electrocardiography and echocardiography features of patients with cardiac amyloidosis (CA) diagnosed by endo-myocardial biopsy (EMB).</p><p><b>METHODS</b>A total of 20 consecutive patients [7 men, mean age (50 ± 12) years] referred for EMB because of clinical suspicion of CA from September 2006 to October 2009 were included in the study. Primary CA was diagnosed in 11 out of 20 patients (55%) by EMB and biomarkers examination. The electrocardiography and echocardiography features were analyzed.</p><p><b>RESULTS</b>The voltage of all the limb leads were low in the 11 CA patients [mean values of (0.33 - 0.51) mV], the incidence of low voltage and pseudo-infarction patterns were 45% and 45%, respectively. Concentric hypertrophy and normal left ventricular diameters were evidenced in all CA patients on echocardiography, left atrial enlargement (n = 10, 91%), granular/sparking appearance of the myocardium (n = 9, 82%) and moderate to large pericardial effusion (n = 7, 64%) as well as left ventricular systolic dysfunction (n = 8, 73%) were often presented in CA patients.</p><p><b>CONCLUSIONS</b>The diagnosis of primary CA should be considered in patients with unknown origin of heart failure, concentric hypertrophy and normal left ventricular diameters with granular/sparking appearance of the myocardium or pericardial effusion presented on echocardiography and low voltage of limb leads or pseudo-infarction pattern presented on electrocardiography. EMB and serum (urine) biomarkers examinations should be then performed to confirm or exclude the diagnosis of CA.</p>