Adult ; Cardiomyopathies ; diagnosis ; etiology ; Electrocardiography ; Heart Block ; diagnosis ; etiology ; Humans ; Male ; Sarcoidosis ; complications ; diagnosis ; pathology ; Skin Diseases ; diagnosis ; etiology ; pathology

PURPOSE: As cardiomyopathy is more prevalent and currently the leading cause of death in Duchenne muscular dystrophy (DMD), early detection of myocardial involvement is important. The purpose of this study was to analyze myocardial strain in DMD children, for the possibility of early detection of myocardial dysfunction. MATERIALS AND METHODS: We reviewed medical records of DMD patients who were >10 years of age (15.6±1.6 years, 12.5-18 years), from March 2013 to June 2014. Data of 24 DMD children who underwent echocardiography with three-layer specific myocardial strain were compared with 24 controls (age: 9.3±4.0 years, 5.5-17 years). RESULTS: Epicardial longitudinal strain was lower in DMD (DMD: -9.3±3.8%; control: -12.3±4.3%; p=0.012). Radial strain (DMD: 24.1±11.1%; control: 37.3±25.9%; p=0.027) and strain rate (SR) (DMD: 1.68±0.91; control: 2.42±0.84; p=0.006) on parasternal short axis view were lower in DMD. Circumferential strains in the endocardium (DMD: -17.5±4.7%; control: -24.2±5.3%; p<0.001), myocardium (DMD: -12.7±3.8%; control: -18.0±4.0%; p<0.001), and epicardium (DMD: -8.4±4.0%; control: -12.2±5.0%; p=0.006) were significantly decreased in DMD. Circumferential SRs were lower in the endocardial (DMD: -1.46±0.38; control: -1.78±0.27; p=0.002) and myocardial layers (DMD: 1.02±0.27; control: -1.28±0.22; p=0.001). CONCLUSION: In DMD patients, deteriorations in myocardial circumferential strain might be an indicator for predicting cardiomyopathy.
Adolescent ; Cardiomyopathies/*diagnostic imaging/*etiology ; Case-Control Studies ; Child ; Child, Preschool ; Early Diagnosis ; *Echocardiography ; Female ; Humans ; Male ; Muscular Dystrophy, Duchenne/*complications/*diagnostic imaging ; Predictive Value of Tests

We report the rare case of a patient with advanced renal cell carcinoma (RCC) who initially presented to the hospital with symptoms of cardiac failure. Preoperative cardiac studies did not reveal any underlying ischemia. After resection of a large 14-cm left renal tumor, cardiac function was noted to improve dramatically. We discuss this case of concomitant RCC and nonischemic cardiomyopathy.
Asian Continental Ancestry Group ; Carcinoma, Renal Cell/*diagnosis/surgery ; Cardiomyopathies/*diagnosis ; Female ; Heart Failure/*etiology ; Humans ; Middle Aged ; Paraneoplastic Syndromes/complications ; Thalassemia/complications

Cardiomyopathies ; classification ; diagnosis ; etiology ; Cardiomyopathy, Dilated ; diagnosis ; etiology ; Child ; Child, Preschool ; China ; Humans

OBJECTIVETo discuss the diagnostic value of cardiac enzyme and troponin in acute organophosphorus pesticide poisoning (AOPP).

METHODSA retrospective study was performed in the document published in domestic journals and PubMed from 1979 to 2010. The data of the cardiac enzyme and troponin were collected. Statistical analysis was conducted with one-way ANOVA and rank sum test. 2129 cases with AOPP were enrolled.

RESULTSThe levels of creatine kinase (CK), creatine kinase-MB (CK-MB) and cardiac troponin I (cTnI) in milder, moderate and severe poisoning groups were significantly elevated compared by the healthy control group (P < 0.05). The differences were also dramatic among three patients groups (P < 0.05). The ratios of CK-MB to CK in both moderate and severe groups were significantly lower than in healthy controls (P < 0.05). The levels of CK, CK-MB and cTnI were higher especially in patients with intermediate myasthenic syndrome (IMS) than patients without IMS. Meanwhile, the levels of CK and CK-MB were elevated in patients with respiratory failure compared by non-failure ones, but decreased in the ratios of CK-MB to CK (P < 0.05).

CONCLUSIONSThe elevation of CK and CK-MB in serum could not be judged as the criteria of myocardial damage in AOPP, the ratio of CK-MB to CK were more valuable; the value of cTnI in myocardial damage was still in suspect. CK, CK-MB and cTnI could be used as auxiliary criteria of AOPP classification.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Cardiomyopathies ; diagnosis ; etiology ; Child ; Child, Preschool ; Creatine Kinase ; blood ; Creatine Kinase, MB Form ; blood ; Female ; Humans ; Infant ; Male ; Middle Aged ; Myocardium ; enzymology ; metabolism ; pathology ; Organophosphate Poisoning ; metabolism ; Troponin I ; blood ; Troponin T ; blood ; Young Adult

OBJECTIVECarnitine deficiency has been associated with progressive cardiomyopathy due to compromised energy metabolism. The objective of this study was to investigate clinical features of carnitine deficiency-induced cardiomyopathy and the therapeutic efficacy of L-carnitine administration.

METHODBetween January 2010 and December 2011, filter-paper blood spots were collected from 75 children with cardiomyopathy. Free carnitine and acylcarnitine profiles were measured for each individual by tandem mass spectrometry (MS/MS). For those in whom carnitine deficiency was demonstrated, treatment was begun with L-carnitine at a dose of 150 - 250 mg/(kg·d). Clinical evaluation, including physical examination, electrocardiography, chest x-ray, echocardiography and tandem mass spectrometry, was performed before therapy and during follow-up.

RESULTOf 75 cardiomyopathy patients, the diagnosis of carnitine deficiency was confirmed in 6 patients, which included 1 boy and 5 girls. Their age ranged from 0.75 to 6 years. Free carnitine content was (1.55 ± 0.61) µmol/L (reference range 10 - 60 µmol/L). Left ventricular end-diastolic diameter (LVDd) was (5.04 ± 0.66) cm and left ventricular ejection fraction (LVEF) was (38.5 ± 10.5)%. After 10 - 30 d therapy of L-carnitine, free carnitine content rose to (30.59 ± 15.02) µmol/L (t = 4.79, P < 0.01). LVDd decreased to (4.42 ± 0.67) cm (t = 4.28, P < 0.01) and LVEF increased to (49.1 ± 7.6)% (t = 6.59, P < 0.01). All patients received follow-up evaluations beyond 6 months of treatment. Clinical improvement was dramatic. LVEF returned to normal completely in all the 6 patients. LVDd decreased further in all the 6 patients and returned to normal levels in 3 patients. No clinical signs or symptoms were present in any of the 6 patients. The only complications of therapy had been intermittent diarrhea in 1 patient.

CONCLUSIONTandem mass spectrometry is helpful to diagnose carnitine deficiency and should be performed in all children with cardiomyopathy. L-carnitine has a good therapeutic effect on carnitine deficiency-induced cardiomyopathy.

Adolescent ; Cardiomyopathies ; diagnosis ; drug therapy ; etiology ; Cardiotonic Agents ; administration & dosage ; therapeutic use ; Carnitine ; blood ; deficiency ; therapeutic use ; Child ; Child, Preschool ; Electrocardiography ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Retrospective Studies ; Tandem Mass Spectrometry ; Treatment Outcome ; Ventricular Function, Left ; drug effects

Cardiomyopathies ; classification ; diagnosis ; etiology ; Cardiomyopathy, Dilated ; diagnosis ; etiology ; Cardiomyopathy, Hypertrophic ; diagnosis ; etiology ; Child ; Humans ; Pediatrics ; Suggestion

OBJECTIVETo analyze and summarize the characteristics of glycogen storage disease type II (Pompe disease) patients according to the clinical description and prognosis.

METHODSeventeen Chinese patients diagnosed by acid alpha-glucosidase (GAA) enzyme activity test were reviewed. Clinical data tables were designed. Interviews were made via phone calls. Information was collected to reach the objective.

RESULTFour of 17 patients diagnosed by acid alpha-glucosidase are infantile-onset, symptoms started between 2 to 6 months after birth with increased serum creatine kinase and cardiac problems, with or without respiratory concerns. Other 13 patients were later-onset cases, and their symptoms started between 2 to 22 years of age with increased serum creatine kinase. Eleven later-onset patients started with muscle weakness, 2 patients developed respiratory insufficiency, 2 patients showed scoliosis, and 1 patient expressed increased serum creatine kinase with abnormal liver function. Just 3 of the later-onset patients were treated with mechanical ventilator and adjuvant therapy, others were not. All patients' acid alpha-glucosidase (GAA) enzyme activity analysis showed lower than 10% of normal. Fourteen patients were tested by muscle biopsy pathology, and 9 of them progressed to glycogen storage disease type II; 10 patients received genetic analysis, and 6 of them had two mutations which cause the disorder. Twelve of the 17 patients were interviewed successfully. In 3 of the infant-onset patients the disease resulted in death from respiratory failure, and 1 is still alive at the age of 1 year and 7 months. In 4 of 8 later-onset patients the disease resulted in death from respiratory failure between 3 to 5 years after onset of symptoms. Three of 4 survivors had increased muscle weakness, and 1 patient kept alive with ventilator without any changes. Seven of 12 interviewed patients died, the mortality rate was 58.3%.

CONCLUSIONGlycogen storage disease type II (Pompe disease) present differently in the clinic. Infant-onset Pompe disease is mainly characterized by generalized muscle weakness and obvious cardiac involvement. It's a dangerous disease, with high mortality rate. Later-onset Pompe disease is characterized by chronic proximal muscle weakness and respiratory insufficiency. GAA enzyme activity analysis, muscle biopsy and genetic analysis used to support the diagnosis of Pompe disease. Prognosis of the disease depends on age of onset and respiratory muscle involvement.

Adolescent ; Biopsy ; Cardiomyopathies ; epidemiology ; etiology ; Child ; Child, Preschool ; Clinical Enzyme Tests ; Creatine Kinase ; blood ; Female ; Follow-Up Studies ; Glucan 1,4-alpha-Glucosidase ; genetics ; metabolism ; Glycogen Storage Disease Type II ; diagnosis ; genetics ; pathology ; Humans ; Infant ; Male ; Muscle Weakness ; epidemiology ; etiology ; Prognosis ; Respiratory Insufficiency ; epidemiology ; Retrospective Studies ; Young Adult

Adolescent ; Cardiomyopathies ; diagnosis ; etiology ; physiopathology ; Diagnosis, Differential ; Electrocardiography ; Female ; Humans ; Tachycardia, Ectopic Atrial ; complications

Cardiomyopathies ; diagnosis ; etiology ; Child ; Humans