Cardiomyopathy, Dilated ; therapy ; Child ; Humans

The mutations of TTN gene that encodes titin are the most common mutation type among the genetic causes of dilated cardiomyopathy (DCM). This article reviews the worldwide studies on potential molecular pathogenesis (transcription, post-translational modification, etc.), clinical phenotypes, and gene therapies of pediatric DCM caused by TTN mutations, with the hope of providing a reference for the precision treatment of pediatric DCM caused by TTN mutations.
Humans ; Cardiomyopathy, Dilated/therapy* ; Connectin/genetics* ; Genetic Therapy ; Mutation ; Phenotype

Cardiomyopathy, Dilated ; surgery ; therapy ; Humans ; Stem Cell Transplantation

Cardiomyopathy, Dilated ; diagnosis ; therapy ; Europe ; Humans ; United States

Cardiomyopathy, Dilated ; etiology ; pathology ; therapy ; Humans ; Myocardium ; pathology

PURPOSE: The anthracyclines (AC) are widely used chemotherapeutic agents for pediatric cancers. However, the therapeutic use of these agents is limited by their cardiotoxicity. The aim of the present study was to investigate the usefulness of plasma B-type natriuretic peptide (BNP) levels as a marker for AC-induced cardiotoxicity compared to echocardiography in Korean children with cancer. METHODS: Fifty-five pediatric cancer patients who had received chemotherapy including AC were enrolled. The cumulative AC doses, clinical symptoms, and two echocardiography parameters, left ventricular fractional shortening (LVFS) and left ventricular ejection fraction (LVEF), were studied and compared with plasma BNP levels. RESULTS: In 55 patients, plasma BNP levels were measured 115 times and echocardiographies were performed 64 times. The median cumulative dose of AC was 325 mg/m2 (range 120-600; mean 345) and the median plasma BNP level was 10 pg/mL (range 5-950; mean 31). The cumulative AC doses correlated significantly with the plasma BNP levels (P=0.002). The plasma BNP levels correlated significantly with LVFS (P=0.018) and LVEF (P=0.025). Dilated cardiomyopathies were identified in three patients. LVFS and LVEF decreased and plasma BNP levels increased in a patient with acute dilated cardiomyopathy and in that with symptomatic chronic dilated cardiomyopathy. However, LVFS, LVEF and plasma BNP levels were normal in a patient with asymptomatic chronic dilated cardiomyopathy. CONCLUSION: The results of this study demonstrated that plasma BNP levels could be used as a marker for AC-induced cardiotoxicity; they showed good correlation with echocardiography findings in pediatric cancer patients. Plasma BNP levels may be used for the detection and management of AC-induced cardiotoxicity in Korean children with cancer.
Anthracyclines ; Cardiomyopathy, Dilated ; Child* ; Drug Therapy ; Echocardiography ; Humans ; Natriuretic Peptide, Brain* ; Plasma* ; Stroke Volume

Dystrophinopathies, including Duchenne muscular dystrophy, Becker muscular dystrophy and dilated cardiomyopathy, are X-linked recessive genetic disorders due to variants of the dystrophin gene, which can seriously affect quality of life and health. Genetic diagnosis plays a crucial role in their diagnosis, treatment, and prevention. How to rationally select and standardize the use of various genetic techniques is a skill that clinicians must acquire. By compiling expertise of experts from the relevant areas and guidelines published home and abroad, this consensus has provided a guidance from the perspective of genetic diagnosis for the selection of genetic techniques, testing strategies, and detection process for dystrophinopathies.
Humans ; Quality of Life ; Consensus ; Dystrophin/genetics* ; Muscular Dystrophy, Duchenne/therapy* ; Cardiomyopathy, Dilated/genetics* ; Electrocardiography

OBJECTIVEThe aim of this study is to identify short-term result of cell transplantation in idiopathic dilated cardiomyopathy (IDC) patients who were treated by intracoronary transplantation of autologous mononuclear bone marrow cells (BMCs) in addition to standard therapy.

METHODSBased on given standard therapy, eighteen patients with idiopathic dilated cardiomyopathy were enrolled and divided into transplantation group and control group. The clinical characteristics of two groups were comparable. Among these patients, 10 patients were performed percutaneous coronary autologous BMCs transplantation. Blood routine test, hepatic function, renal function, glucose, triglyceride (TG), cholesterol, low density cholesterol (LDL), high density cholesterol (HDL), uric acid (UA) and high sensitive C-reactive protein (hsCRP) were measured at the time point of pre-operation and some time after transplantation. All patients were monitored under ultrasonic cardiography, Holter, six-minute-walk test and magnetic resonance imaging over a period of at least 6 months. Annual hospital days were recorded during two-year follow-up.

RESULTSBlood routine test, hepatic function, renal function, glucose, TG, cholesterol, LDL, HDL, UA and hsCRP had no significant differences among 48 hours, 3 months and 6 months after transplantation compared with control and pre-transplantation (P > 0.05). Six-minute-walk distance elevated significantly six months after BMCs transplantation compared with control and pre-transplantation [(494.3 +/- 62.8) m vs (307.2 +/- 75.0) m, (321.5 +/- 63.7) m, P < 0.05]. Left ventricular ejection fraction (LVEF) and the sizes of LVEDd had no significant changes compared with that of control and pre-transplantation (P > 0.05). Myocardium lesion area measured by (MRI) seemed decrease in transplantation group compared with that of control and pre-operation [(4.96 +/- 0.47) cm(2) vs (5.12 +/- 0.54) cm(2), (5.02 +/- 0.39) cm(2), P > 0.05], but there was no significance. None of proarrhythmias and side effects had been observed around transplantation and 2 years follow-up. There was no significant difference in survival between two groups in 2 years follow-up. Interestingly, annual hospital day in BMCs transplantation patients was significantly shorter than that in control group [(30.2 +/- 11.2) d vs (43.6 +/- 9.8) d, P < 0.05].

CONCLUSIONSAutologous bone marrow mononuclear cells transplantation can prolong six-minute-walk, decrease re-hospitalization rate, elevate exercise ability and help to improve cardiac function in patients with IDC. In addition, it was demonstrated that cell transplantation is safe.

Bone Marrow Transplantation ; Cardiomyopathy, Dilated ; surgery ; therapy ; Humans ; Transplantation, Autologous ; Treatment Outcome

OBJECTIVETo investigate the effects of cardiac resynchronization therapy (CRT) on left ventricular (LV) diastolic function measured by speckle tracking imaging (STI) in patients with dilated cardiomyopathy (DCM).

METHODSCRT was performed in 21 DCM patients [15 male, mean age: 61.2 ± 11.2 (49-82) years].LV synchronization, LV systolic function and LV diastolic function were evaluated with conventional echocardiography, tissue Doppler imaging and STI before and 6 months after CRT.NYHA heart function was also assessed. Clinic Response to CRT was defined as improvement of more than 1 NYHA class.Response to CRT in echocardiography was defined as ≥ 15% reduction in LV end systolic volume at 6 months post CRT.

RESULTSThere were 16 responders and 5 non-responders at 6 months post CRT.In terms of diastolic function, conventional echocardiography derived deceleration time was both prolonged in non-responders and responders. At 6 months post CRT, STI derived LV isovolumetric diastolic strain rate [(0.19 ± 0.11) /s vs.(0.14 ± 0.09)/s, P < 0.001] was significantly increased while early diastolic mitral valve blood flow velocity/left ventricular isovolumetric diastolic strain rate (680 ± 600 vs.787 ± 690, P < 0.04) was significantly reduced in responder group while remained unchanged in non-responder group.Furthermore, left ventricular isovolumetric diastolic strain rate negatively correlated with plasma brain natriuretic peptide level (r = -0.68, P < 0.05).

CONCLUSIONIn CRT responders of DCM patients, LV diastolic function is significantly improved and this change could be detected more effectively by STI derived LV diastolic function parameters.

Aged ; Aged, 80 and over ; Cardiac Resynchronization Therapy ; Cardiomyopathy, Dilated ; therapy ; Diagnostic Imaging ; Female ; Humans ; Male ; Middle Aged ; Ventricular Function, Left

PURPOSE: This study aimed to determine whether upgrade cardiac resynchronization therapy (CRT) shows better outcomes than de novo CRT. To do so, we compared the efficacy of CRT between de novo and upgrade groups, focusing particularly on the effect of upgrade CRT on patients with pacing-induced cardiomyopathy (PiCM). MATERIALS AND METHODS: PiCM was defined as new-onset dilated cardiomyopathy following pacemaker implantation in patients with baseline normal ejection fraction ≥50%. Electro-mechanical reverse remodeling and clinical outcomes were compared among the de novo (n=62), PiCM upgrade (n=7), and non-PiCM upgrade (n=8) CRT groups. RESULTS: The PiCM upgrade group showed significantly greater electro-mechanical reverse remodeling than the de novo CRT or non-PiCM upgrade groups at 6-month follow-up. The rate of super-responders was significantly higher in the PiCM upgrade group than the other CRT groups. The group factor of the PiCM upgrade was identified as an independent predictor of super-responder in multivariate analysis (odds ratio 10.4, 95% confidential interval 1.08–99.4, p=0.043). During the median follow-up of 15.8 months, the PiCM upgrade group showed the lowest rate of composite clinical outcomes, including cardiac death, heart transplantation, and heart failure-related rehospitalization (p=0.059). CONCLUSION: The upgrade CRT for PiCM patients showed better performance in terms of electro-mechanical reverse remodeling than de novo implantation or upgrade CRT in non-PiCM patients.
Cardiac Resynchronization Therapy* ; Cardiomyopathies* ; Cardiomyopathy, Dilated ; Death ; Focus Groups ; Follow-Up Studies ; Heart ; Heart Transplantation ; Humans ; Multivariate Analysis ; Ventricular Remodeling