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

Bayesian network Meta-analysis was performed to evaluate the efficacy and safety of different Chinese patent medicines in the treatment of dilated cardiomyopathy. The PubMed, EMbase, Cochrane Library, CNKI, Wanfang, and VIP were searched for the randomized controlled trial(RCT) from the inception to May 2023. The quality of the included RCT was evaluated by the Cochrane risk of bias assessment tool, and the data were analyzed by RStudio 3.6.3 calling the "gemtc" package. A total of 96 RCTs involving 8 452 patients, 11 Chinese patent medicines, and 8 outcome indicators were included. Network Meta-analysis is described as follows.(1)In terms of improving clinical total effective rate, except Yixinshu Capsules + conventional western medicine, Shexiang Baoxin Pills + conventional western medicine, and Xinshuai Mixture + conventional western medicine, the other Chinese patent medicines combined with conventional western medicine were superior to conventional western medicine alone, and Shenqi Yiqi Dropping Pills + conventional western medicine had the best effect.(2)In terms of improving left ventricular ejection fraction(LVEF), except Yixinshu Capsules + conventional western medicine and Shensong Yangxin Capsules + conventional western medicine, other Chinese patent medicines combined with conventional western medicine outperformed conventional western medicine alone, and Shexiang Baoxin Pills + conventional western medicine had the best effect.(3)In terms of reducing left ventricular end-diastolic dimension(LVEDD), Getong Tongluo Capsules + conventional western medicine, Xinshuai Mixture + conventional western medicine, Huangqi Mixture + conventional western medicine, Tongxinluo Capsules + conventional western medicine, Wenxin Granules + conventional western medicine, and Qili Qiangxin Capsules + conventional western medicine were better than conventional western medicine alone, and Wenxin Granules + conventional western medicine had the best effect.(4)There was no significant difference in reducing left ventricular end-systolic diameter(LVESD) between Chinese patent medicines combined with conventional western medicine and conventional western medicine alone.(5)In terms of improving 6-minute walking trail(6MWT), Yangxinshi Tablets + conventional western medicine, Yixinshu Capsules + conventional western medicine, Shenqi Yiqi Dropping Pills + conventional western medicine, Wenxin Granules + conventional western medicine, and Qili Qiangxin Capsules + conventional western medicine were superior to conventional western medicine alone, and Shenqi Yiqi Dropping Pills + conventional western medicine had the best effect.(6)In reducing brain natriuretic peptide(BNP), Xinshuai Mixture + conventional western medicine ourperformed conventional western medicine alone.(7)In reducing hypersensitive C-reactive protein(hs-CRP), Shenqi Yiqi Dropping Pills + conventional western medicine, Qili Qiangxin Capsules + conventional western medicine outperformed conventional western medicine alone, and Qili Qiangxin Capsules + conventional western medicine had the best effect.(8)In terms of safety, adverse reactions were reported in both groups. In conclusion, Chinese patent medicine combined with conventional western medicine were more effective in the treatment of dilated cardiomyopathy. The combinations relieve clinical symptoms and improve cardiac function indexes, and thus can be used according to the patients' conditions in clinical practice. However, limited by the quality and sample size of the included studies, the conclusion remains to be verified by multi-center, large-sample, and high-quality RCT in the future.
Humans ; Bayes Theorem ; Cardiomyopathy, Dilated/drug therapy* ; Drugs, Chinese Herbal/therapeutic use* ; Natriuretic Peptide, Brain ; Network Meta-Analysis ; Nonprescription Drugs/therapeutic use* ; Stroke Volume ; Ventricular Function, Left

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

PURPOSE: Cardiotoxicity is a serious late complication of breast cancer treatment. Individual treatment risk of specific drugs has been investigated. However, studies on the evaluation of the composite risk of chemotherapeutic agents are limited.METHODS: We retrospectively analyzed the medical records of breast cancer patients who received adjuvant treatment and had available serial echocardiography results. Patients were assigned to subgroups based on chemotherapy containing anthracyclines (A), anthracyclines and taxanes (A+T), and radiotherapy (RT). The development of cardiac disease and serial ejection fraction (EF) were reviewed. EF decline up to 10% from baseline was considered grade 1 cardiotoxicity and EF decline >20% or absolute value < 50% was considered grade 2 cardiotoxicity. The most recent medical records and echocardiography results over 1 year of chemotherapy completion were also reviewed. Late cardiotoxicity was defined as a lack of recovery of EF decline or aggravated EF decline from baseline.RESULTS: In total, 123 patients were evaluated. A small reduction in EF was observed after chemotherapy in both chemotherapy groups. There were no significant differences between groups A and A+T in EF decline following chemotherapy. We could not find any differences in composite risk between the chemotherapy groups and the RT group during follow-up. Late cardiotoxicity was seen in 15.45% of patients. During follow-up, three patients were diagnosed with dilated cardiomyopathy.CONCLUSION: There was no significant composite risk elevation following adjuvant treatment of breast cancer. However, late cardiotoxicity was considerable and further research in this direction is necessary.
Anthracyclines ; Breast Neoplasms ; Breast ; Cardiomyopathy, Dilated ; Cardiotoxicity ; Drug Therapy ; Echocardiography ; Follow-Up Studies ; Heart Diseases ; Humans ; Medical Records ; Radiotherapy ; Retrospective Studies ; Taxoids

The popliteal artery is a relatively short vascular structure, but acute occlusion can decrease blood flow into the lower extremities and cause subsequent critical limb ischemia, amputation, and even mortality. Further, peripheral artery disease patients frequently have combined cardio-cerebrovascular disease. Here, we report a rare case of sudden bilateral thrombotic total occlusion in the popliteal arteries of a patient with dilated cardiomyopathy and left ventricular thrombi. This patient has been successfully managed by endovascular therapy and subsequent intra-arterial thrombolytic therapy.
Amputation ; Angioplasty ; Cardiomyopathy, Dilated ; Extremities ; Humans ; Ischemia ; Lower Extremity ; Mortality ; Peripheral Arterial Disease ; Popliteal Artery ; Thromboembolism ; Thrombolytic Therapy

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

BACKGROUND: The current indications of cardiac implantable electronic devices (CIEDs) have expanded to include young patients with serious cardiac risk factors, but CIED placement has the disadvantage of involving unsightly scarring and bulging of the chest wall. A collaborative team of cardiologists and plastic surgeons developed a technique for the subpectoral placement of CIEDs in young female patients via a transaxillary approach. METHODS: From July 2012 to December 2015, subpectoral CIED placement via an axillary incision was performed in 10 young female patients, with a mean age of 25.9 years and mean body mass index of 20.1 kg/m². In the supine position, with the patient's shoulder abducted, an approximately 5-cm linear incision was made along one of the deepest axillary creases. The submuscular plane was identified at the lateral border of the pectoralis major, and the dissection continued over the clavipectoral fascia until the subpectoral pocket could securely receive a pulse generator. Slight upward dissection also exposed an entrance to the subclavian vein, allowing the cardiology team to gain access to the vein. One patient with dilated cardiomyopathy underwent augmentation mammoplasty and CIED insertion simultaneously. RESULTS: One case of late-onset device infection occurred. All patients were highly satisfied with the results and reported that they would recommend the procedure to others. CONCLUSIONS: With superior aesthetic outcomes compared to conventional methods, the subpectoral placement of CIEDs via a transaxillary approach is an effective, single-incision method to hide operative scarring and minimize bulging of the device, and is particularly beneficial for young female or lean patients.
Body Mass Index ; Cardiac Resynchronization Therapy ; Cardiology ; Cardiomyopathy, Dilated ; Cicatrix ; Defibrillators, Implantable ; Fascia ; Female* ; Humans ; Mammaplasty ; Methods ; Pacemaker, Artificial ; Plastics ; Risk Factors ; Shoulder ; Subclavian Vein ; Supine Position ; Surgeons ; Thoracic Wall ; Veins

We report a case demonstrating a rapid and potent antiarrhythmic effect of biventricular pacing. A 67-year-old male patient with dilated cardiomyopathy was admitted for heart failure. The initial surface electrocardiogram revealed a left bundle branch block with a QRS complex duration of 200 ms. Echocardiographic examination revealed a left ventricular ejection fraction of 16%, a left ventricular end-diastolic dimension of 91 mm, and marked interventricular dyssynchrony. Continuous rhythm monitoring revealed frequently-recurring non-sustained monomorphic ventricular tachycardia (VT). Polymorphic VT, which persisted for 27 seconds, occurred on the third day after admission, and the R on T phenomenon recurred every two to three days thereafter. Optimal medical therapy for four weeks failed to suppress the recurrence of ventricular arrhythmias or ameliorate heart failure. Cardiac resynchronization therapy was initiated for an anticipated antiarrhythmic effect of biventricular pacing. Three days after the initiation of biventricular pacing, the ventricular arrhythmias disappeared almost completely.
Aged ; Arrhythmias, Cardiac* ; Bundle-Branch Block ; Cardiac Resynchronization Therapy* ; Cardiomyopathy, Dilated* ; Echocardiography ; Electrocardiography ; Heart Failure ; Humans ; Male ; Recurrence ; Stroke Volume ; Tachycardia, Ventricular

Cardiac resynchronization therapy (CRT) is a new treatment for refractory heart failure. However, most patients with heart failure treated with CRT are adults, middle-aged or older with idiopathic or ischemic dilated cardiomyopathy. We treated a 12-year-old boy, who was transferred after cardiac arrest, with dilated cardiomyopathy, left bundle-branch block, and ventricular tachycardia. We performed cardiac resynchronization therapy with a defibrillator (CRT-D). After CRT-D, left ventricular ejection fraction improved from 22% to 44% assessed by echocardiogram 1 year postoperatively. On electrocardiogram, QRS duration was shortened from 206 to 144 ms. The patient's clinical symptoms also improved. For pediatric patients with refractory heart failure and ventricular arrhythmia, CRT-D could be indicated as an effective therapeutic option.
Adult ; Arrhythmias, Cardiac* ; Bundle-Branch Block ; Cardiac Resynchronization Therapy* ; Cardiomyopathies ; Cardiomyopathy, Dilated ; Child* ; Defibrillators ; Electrocardiography ; Heart Arrest ; Heart Failure* ; Heart* ; Humans ; Male ; Stroke Volume ; Tachycardia, Ventricular

Graves disease (GD) can lead to complications such as cardiac arrhythmia and heart failure. Although dilated cardiomyopathy (DCMP) has been occasionally reported in adults with GD, it is rare in children. We present the case of a 32-month-old boy with DCMP due to GD. He presented with irritability, vomiting, and diarrhea. He also had a history of weight loss over the past few months. On physical examination, he had tachycardia without fever, a mild diffuse goiter, and hepatomegaly. The chest radiograph showed cardiomegaly with pulmonary edema, while the echocardiography revealed a dilated left ventricle with an ejection fraction (EF) of 28%. The thyroid function test (TFT) showed elevated serum T3 and decreased thyroid stimulating hormone (TSH) levels. The TSH receptor autoantibody titer was elevated. He was diagnosed with DCMP with GD; treatment with methylprednisolone, diuretics, inotropics, and methimazole was initiated. The EF improved after the TFT normalized. At follow-up several months later, although the TFT results again showed evidence of hyperthyroidism, his EF had not deteriorated. His cardiac function continues to remain normal 1.5 months after treatment was started, although he still has elevated T3 and high TSH receptor antibody titer levels due to poor compliance with drug therapy. To summarize, we report a young child with GD-induced DCMP who recovered completely with medical therapy and, even though the hyperthyroidism recurred several months later, there was no relapse of the DCMP.
Adult ; Arrhythmias, Cardiac ; Cardiomegaly ; Cardiomyopathy, Dilated* ; Child* ; Child, Preschool ; Compliance ; Deoxycytidine Monophosphate ; Diarrhea ; Diuretics ; Drug Therapy ; Echocardiography ; Fever ; Follow-Up Studies ; Goiter ; Graves Disease* ; Heart Failure ; Heart Ventricles ; Hepatomegaly ; Humans ; Hyperthyroidism ; Male ; Methimazole ; Methylprednisolone ; Physical Examination ; Pulmonary Edema ; Radiography, Thoracic ; Receptors, Thyrotropin ; Recurrence ; Tachycardia ; Thyroid Function Tests ; Thyrotropin ; Vomiting ; Weight Loss