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

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.

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

To clarify the exact role of endomyocardial biopsy in the diagnosis and monitoring of adriamycin-induced cardiotoxicity and to observe the actual relationship between pathologic changes and cardiac dysfunction, a cross-sectional clinical study was conducted. Echocardiography was used to evaluate cardiac dysfunction in 18 patients who had received chemotherapy including adriamycin(mean dose : 410mg/m2 of B.S.A.) without clinical evidence of congestive heart failure, and in 19 normal controls. Six patients receiving adriamycin underwent 7 transfemoral endomyocardial biopsy procedures, and the specimens were evaluated by light and electron microscopy for evidence of drug-related cardiotoxicity. Indexes of cardiac systolic function obtained by M-mode echocardiography(left ventricular dimension, excursion of interventricular septum and left ventricular posterior wall, shortening fraction and ejection fracton) did not show any statistically significant difference between patients who received adriamycin and normal controls. In transmitral flow-velocity curves recorded by Doppler echocardiography with a 2.25MHz probe, the patients showed less E peak velocity and decreased E/A ratio compared with normal controls, which suggests left ventricular diastolic dysfunction in the patients who received adriamycin. All the specimens of the endomyocardial biopsy showed significant pathologic changes of adriamycin indnced cardiotoxicity which was characterized by myofibrillar loss and vacuolization of the cytoplasm. In 2 specimens, pathologic grade was II, while 5 specimens showed pathologic changes of grade III and further chemotherapy with adriamycine was not done in thse 5 cases. From these results it is suggested that pathologic changes precede the clinical onset of congestive cardiomyopathy in the patients receiving adriamycin and left ventricular diastolic dysfunction occurrs before ejection fraction falls to subnormal levels. We conclude that sequential endomyocardial biopsy is absolutely indicated for exact diagnosis and monitoring of adrinamycin-induced cardiotoxicity to prevent the development of irreversible and often fatal cardiomyopathy.
Biopsy ; Cardiomyopathies ; Cardiomyopathy, Dilated ; Cytoplasm ; Diagnosis ; Doxorubicin* ; Drug Therapy ; Echocardiography ; Echocardiography, Doppler ; Heart Failure ; Humans ; Microscopy, Electron

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