[Clinical characteristics of Danon disease].

Objective: To review the clinical data of 7 patients with Danon disease and analyze their clinical characteristics. Methods: The medical records of 7 patients with Danon disease, who were hospitalized in Peking Union Medical College Hospital of Chinese Academy of Medical Sciences from April 2008 to July 2021, were reviewed and summarized, of which 6 cases were diagnosed as Danon disease by lysosomal-associated membrane protein-2 (LAMP-2) gene mutation detection and 1 case was diagnosed by clinicopathological features. Clinical manifestations, biochemical indexes, electrocardiogram, echocardiography, skeletal muscle and myocardial biopsy and gene detection results were analyzed, and patients received clinical follow-up after discharge. Results: Six patients were male and average age was (15.4±3.5) years and the average follow-up time was (27.7±17.0) months. The main clinical manifestations were myocardial hypertrophy (6/7), decreased myodynamia (2/7) and poor academic performance (3/7). Electrocardiogram features included pre-excitation syndrome (6/7) and left ventricular hypertrophy (7/7). Echocardiography examination evidenced myocardial hypertrophy (6/7), and left ventricular dilatation and systolic dysfunction during the disease course (1/7). The results of skeletal muscle biopsy in 6 patients were consistent with autophagy vacuolar myopathy. Subendocardial myocardial biopsy was performed in 3 patients, and a large amount of glycogen deposition with autophagosome formation was found in cardiomyocytes. LAMP-2 gene was detected in 6 patients, and missense mutations were found in all these patients. During the follow-up period, implantable cardioverter defibrillator implantation was performed in 1 patient because of high atrioventricular block 4 years after diagnosis, and there was no death or hospitalization for cardiovascular events in the other patients. Conclusion: The main clinical manifestations of Danon disease are cardiomyopathy, myopathy and mental retardation. Pre-excitation syndrome is a common electrocardiographic manifestation. Autophagy vacuoles can be seen in skeletal muscle and myocardial pathological biopsies. LAMP-2 gene mutation analysis is helpful in the diagnose of this disease.

[Clinical and imaging characteristics of patients with primary cardiac angiosarcoma].

Objective: To investigate the clinical, cardiac imaging characteristics and prognosis of patients with primary cardiac angiosarcoma. Methods: The clinical data of 14 patients hospitalized with primary cardiac angiosarcoma from January 2001 to December 2017 in Peking Union Medical College Hospital were collected and analyzed. Metastatic cardiac angiosarcoma was not included in this study. Patients were followed up post discharge per telephone call or clinical visit. Results: Of the 14 patients, 8 were males and 6 were females, average age was 48 years. The main clinical symptoms were shortness of breath (8/14), hemoptysis (6/14), fever (5/14), chest pain (4/14) and cough (3/14). Imaging examinations showed that the tumors of 8 patients were located in the right heart and 6 in the pericardial cavity. Tumors in the right heart often infiltrate the atrial wall and cause pericardial effusion (7/8). Tumors in the pericardium were characterized by recurrent bloody pericardial effusion (6/6), prone to progressive constrictive pericarditis (3/6), pericardial fluid cytology was often negative (6/6). MRI showed heterogeneous high signal intensity (cauliflower aspect) on T2-weighted image and heterogeneous enhancement with a"sunray" aspect at the perfusion study. At the time of diagnosis, 8 patients developed lung or adrenal metastasis (8/14). The median survival was only 305 days. Conclusions: Primary cardiac angiosarcoma is a rare disease with non-specific clinical manifestation and poor prognosis. Imaging examinations may help diagnosis. The high invasiveness and the easy-to-metastasis feature of the tumor contribute to the poor prognosis of cardiac angiosarcoma.

[Relationship between impaired myocardial untwisting and left ventricular diastolic dysfunction in patients with autoimmune diseases].

Objective: To observe the relationship between impaired myocardial untwisting and left ventricular diastolic dysfunction in patients with autoimmune diseases (AD). Methods: In this retrospective study, 95 AD patients (27 males, (38.6±14.2) years old) were enrolled as AD group and 71 gender and age matched healthy subjects (24 males, (37.6±12.2) years old) were enrolled as control group, all underwent transthoracic echocardiography and two-dimensional speckle-tracking echocardiography (STE) in our hospital between January 2014 and June 2018. Left ventricular untwisting and diastolic function parameters were measured. Multiple logistic regression analysis was used to identify related factors of left ventricular diastolic dysfunction in AD patients. Receiver operating characteristic (ROC) curve was used to identify the diagnosis value of untwisting parameters for left ventricular diastolic dysfunction in AD patients. Results: Compared with control group, left ventricular ejection fraction was lower (58(47, 66)% vs. 67 (62, 71) %, P<0.001), E/e' was higher (10.78 (7.28, 13.65) vs. 6.30 (5.55, 7.25) , P<0.001), isovolumic relaxation time was longer (73.5 (56.5, 88.0) ms vs. 62.0 (58.0, 68.5) ms, P<0.001),and untwist slope during isovolumic relaxation period (USIR) was lower (31.92 (14.09, 54.92) °/s vs. 59.90 (40.09, 87.18) °/s, P<0.001) in AD group than in control group. Multiple logistic regression analysis showed heart rate (OR=0.885, 95%CI 0.840-0.931, P<0.001), E/e' (OR=0.655, 95%CI 0.537-0.798, P<0.001) and USIR (OR=0.986, 95%CI 0.974-0.998, P=0.020) were independently related with left ventricular diastolic dysfunction in AD patients. ROC curve showed that area under the curve (AUC) was 0.919 (P<0.001), sensitivity was 87.6%, and specificity was 88.7%, when combining the heart rate, E/e', and USIR as assessment parameters for the diagnosis of left ventricular diastolic dysfunction in AD patients at a cutoff of 0.51. Conclusions: Impairment of myocardial untwisting indicates the presence of early stage left ventricular diastolic dysfunction in AD patients. USIR may be a sensitive parameter to evaluate early stage left ventricular diastolic dysfunction in AD patients.

[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].

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.

[Risk factors and prognosis of neurological complications in patients with infective endocarditis].

OBJECTIVE: To identify risk factors of neurological complications (NC) in left-sided infective endocarditis (IE) and to assess its impact on the outcome and cardiac surgery. METHODS: Clinical data, NC, treatment and outcome of patients with definite left-sided IE admitted to our hospital during 2001-2012 were retrospectively analyzed. RESULTS: A total of 308 patients with age of (45.3±15.9) years were enrolled. Among them, 65 (21.1%) experienced at least one NC. Independent risk factors associated with NC were large vegetation (HR=1.681, 95%CI 1.013-2.788, P=0.044), non-neurologic embolism (HR=1.820, 95%CI 1.068-3.100, P=0.028), mitral valve involvement (HR=1.888, 95%CI 1.089-3.274, P=0.024), Staphylococcus aureus infection (HR=2.054, 95%CI 1.097-3.846, P=0.044), and uncontrolled infection (HR=4.680, 95%CI 2.563-8.546, P<0.001). During a median follow-up for 17 months, 70 (22.7%) patients died. NC had a negative impact on long-term outcome (HR=2.292, 95%CI 1.274-4.122, P=0.006). Valve replacement surgery was performed in 156(50.6%)patients, which was associated with a lower rate of 1-year IE-related death (HR=0.160, 95%CI 0.063-0.405, P<0.001). Among patients with NC, valve replacement surgery was associated with lower rates of in-hospital mortality and 1-year IE-related mortality (14.8% vs 5.3%, 18.5% vs 73.7%, respectively, P<0.001). CONCLUSIONS: Independent risk factors of NC include large vegetation, non-neurologic embolism, mitral valve involvement, Staphylococcus aureus infection, and uncontrolled infection. Neurologic complications link to the poor prognosis in patients with left-sided IE. Valve surgery is considered as a safe procedure and improves the survival.

The clinical characteristics and outcome of intracardiac thrombus and aortic valvular involvement in Behçet's disease: an analysis of 20 cases.

OBJECTIVES: To assess the clinical characteristics and outcome of patients with cardiac Behçet's disease(BD). METHODS: Medical charts of 20 cardiac BD patients admitted in Peking Union Medical College Hospital from June 1996 to June 2011 were systematically reviewed, including demographic data, clinical features, laboratory and histopathology findings and outcome. RESULTS: Patients age ranged 19~57 yrs[mean (35±10) yrs], included 17 males and 3 females. Six (30%) of them did not fulfill the ISG criteria at cardiac onset, and fourteen (70%) of them experienced heart failure. Echocardiography findings included intracardiac thrombus (n=7), and aortic valve involvement with left ventricular enlargement and severe aortic regurgitation (n=13). Eight patients underwent surgery before efficient immunosuppressant treatment, and five (62.5%) underwent re-operation due to recurrence of thrombus or valvular dehiscence and severe paravalvular leakage. Histopathology findings revealed predominantly inflammatory cells infiltration, thrombus and fibrous tissue formation. After initiation of prednisone plus immunosuppressant, patients were followed up for 6~42 months (mean 14.8±9.9 months), the intracardiac thrombus disappeared or decreased in size in five cases, remained stable after surgery in the other two cases, and the heart failure disappeared in all patients with aortic involvement. CONCLUSIONS: Cardiac BD affects males more than females, and is prone to delayed diagnosis because some patients do not have typical clinical manifestations at cardiac onset; Corticosteroids plus immunosuppressants reduce the thrombus and improve aortic regurgitation and heart failure in cardiac BD, whereas surgery alone does not lead to complete resolution.