Humans ; Cardiomyopathy, Hypertrophic ; Phenotype ; Cardiomyopathy, Restrictive

The fact that different types of cardiomyopathies can be manifested by the same sarcomere protein gene mutation in a single family is well known. However, mixed features of different types of cardiomyopathies in a single patient have not been well appreciated. We identified a novel mutation in cardiac troponin I3 (Arg186Gly) in the present case, and two of the family members showed mixed morphologic features of hypertrophic cardiomyopathy and left ventricular non-compaction. Moreover, both the features of cardiomyopathies were not apparent for each type of cardiomyopathy. In the patient's family, four other members had unexpected deaths before the age of 30.
Cardiomyopathies* ; Cardiomyopathy, Hypertrophic ; Cardiomyopathy, Restrictive ; Humans ; Sarcomeres ; Troponin*

Cardiomyopathy, Dilated ; Cardiomyopathy, Restrictive/genetics* ; Humans ; Mutation ; Pedigree ; Tropomyosin/genetics*

Systemic sclerosis as a connective tissue disease could affect all internal organs of the body and could also manifest as a cutaneous lesion. Cardiac involvement leading to cardiac manifestations in systemic sclerosis patients is not rare. However, cardiac amyloidosis combined with systemic sclerosis is extremely rare. Although there were no definite treatment options in this case, symptomatic treatment is the cornerstone of the management plan. In this case report, we described a correct diagnosis and symptomatic medical care of early reactive cardiac amyloidosis with systemic sclerosis and summarize the current state of the relevant literature.
Amyloidosis* ; Cardiomyopathy, Restrictive ; Connective Tissue Diseases ; Diagnosis* ; Humans ; Scleroderma, Systemic*

Cardiomyopathy, Restrictive ; diagnosis ; surgery ; Diagnosis, Differential ; Humans ; Infant ; Male

BACKGROUND: Although idiopathic cardiomyopathies(i-CMP) are very important in all age groups, the epidemiology of i-CMP in children has not been well defined. A retrospective study in Korean children was performed in 1998 to obtain basic data on i-CMP. MATERIAL AND METHOD: The medical records of all patients aged birth to 15 years from the hospitals where pediatric cardiologists worked were reviewed to obtain information on i-CMP. Pediatric cardiologists from a total of 22 hospitals were participated in reviewing the medical records of their patients and filling up the protocol. The data were pooled to the study committee and reviewed. RESULTS: Of the 278 cases with i-CMP, there were dilated cardiomyopathy (d-CMP) in 182 (65.4%): hypertrophic cardiomyopathy (h-CMP) in 74 (26.6%): restrictive cardiomyopathy (r-CMP) and unclassified in 17 (6.1%) and 5 (1.9%) each. The average annual occurrence of new cases as a whole was 2.65 per 100,000 (95% CI: 1.5-3.7): d-CMP, 1.73/100,000/year (95% CI: 0.73-2.73): h-CMP, 0.71/100,000/year (95% CI: 0.35-1.07): r-CMP, 0.16/100,000/year (95% CI: 0.02-0.3). The median age at the time of diagnosis was 11 months in d-CMP: 3.0 years in h-CMP: 6.9 years in r-CMP. The survival rate in d-CMP was 76% at 1 year, 72.5% at 2 year, 70% at 5 year. There was no difference in survival rate according to age (in d-CMP, between children less than 2 years of age and over 2 years of age (74% vs. 79% at 1 year: 67% vs. 76% at 5 year, p=NS): in h-CMP, between children less than 1 year of age and over 1 year of age (84% vs. 96% at 1 year: 63% vs. 81% at 5 year, p=NS)). R-CMP showed the worst survival rate (72% at 1 year, 30.2% at 5 year). CONCLUSION: In spite of the inherent defects of retrospective analysis, this study provides the useful epidemiological data in children with i-CMP. However, more systemic approach is needed to define the nature of the i-CMP in children.
Cardiomyopathies* ; Cardiomyopathy, Dilated ; Cardiomyopathy, Hypertrophic ; Cardiomyopathy, Restrictive ; Child* ; Diagnosis ; Epidemiology ; Humans ; Medical Records ; Parturition ; Retrospective Studies ; Survival Rate

The purpose of this presentation is to demonstrate a good results of a second operation, the Waffle procedure, in a patient who did not improve following pericardiectomy. Incomplete parietal pericardiectomy, myocardial fiber atrophy, and unexpected restrictive cardiomyopathy can be considered when the patient's symptom does not improve after pericardiectomy is carried out. Constrictive epicarditis is always ruled out. In our case, the patient having constrictive pericarditis combined with pericardial effusion received a pericardiectomy. However, hemodynamics and symptoms of the patient following the operation did not improve. However, we experienced a good result following a second operation, the Waffle procedure.
Atrophy ; Cardiomyopathy, Restrictive ; Hemodynamics ; Humans ; Pericardial Effusion* ; Pericardiectomy ; Pericarditis ; Pericarditis, Constrictive ; Rabeprazole

Loeffler's endocarditis involves progressive eosinophilic infiltration of the endocardium, which leads to apical thrombotic obliteration of the ventricle and endomyocardial fibrosis, that may finally represent a characteristic feature of restrictive cardiomyopathy. This paper presents a case of a 44-year-old male with symptoms of dyspnea and peripheral hypereosinophilia, who was diagnosed with early stage Loeffler's endocarditis via multicardiac imaging modalities.
Cardiomyopathy, Restrictive ; Dyspnea ; Echocardiography ; Endocardium ; Endomyocardial Fibrosis ; Eosinophils ; Humans ; Hypereosinophilic Syndrome ; Male ; Thrombosis

Embolic cerebral infarction due to cardiac amyloidosis is rare. We report two patients with amyloidosis who developed cerebral infarcts. These embolic infarcts were probably related to cardiac involvement of amyloidosis, which was based on results of myocardial biopsy (Patient 1), and kidney biopsy and characteristic echocardiographic features including granular sparkling, restrictive cardiomyopathy and the presence of mural thrombus (Patient 2). Diffuse amyloid infiltration of the heart may have lead to impairment of myocardial function and subsequent mural thrombosis. Cardiomyopathy due to cardiac amyloidosis should be recognized as one of the causes of cardioembolic infarction.
Amyloid ; Amyloidosis* ; Biopsy ; Cardiomyopathies ; Cardiomyopathy, Restrictive ; Cerebral Infarction ; Echocardiography ; Embolism ; Heart ; Humans ; Infarction* ; Kidney ; Stroke ; Thrombosis

Objective: To compare left ventricular myocardial mechanics detected by cardiac magnetic resonance tissue tracking(CMR-TT) between patients with constrictive pericarditis(CP) and restrictive cardiomyopathy(RCM),and see if those can be used to differentiate CP from RCM patients. Methods: A total of 23 patients with CP, 20 patients with RCM, who hospitalized in Beijing Anzhen Hospital from January 2014 to April 2019 were included in this study and 25 healthy subjects served as control group, all subjects underwent cardiac magnetic resonance examination. Myocardial mechanics were evaluated by 2-dimensional(2D) and 3-dimensional(3D) CMR-TT in terms of global longitudinal strain(GLS), circumferential strain(GCS), radial strain(GRS) and the lateral wall strain to septal wall strain ratio(lateral/septal ratio) of basal, mid-cavity and apical. The diagnostic area under the receiver operating characteristic curve (ROC) was evaluated for differentiating CP from RCM. Results: Age, sex and heart rate were similar between CP and RCM patients(all P>0.05). 2D-GLS, 3D-GLS, GCS and GRS in CP and RCM groups were significantly lower than those in normal control group(all P<0.05).3D-GLS value was significantly lower in RCM patients than in CP patients(P<0.05), the area under the curve (AUC)=0.787(sensitivity 80%, specificity 78%). 3D-GCS was significantly lower in CP group than in RCM group(P<0.05), the AUC=0.737(sensitivity 80%, specificity 65%). However, there was no significant difference between CP and RCM in 3D-GRS(P>0.05). Compared with RCM, the circumferential and radial lateral/septal ratios of the basal were significantly lower in CP group than in RCM group(both P<0.05), AUC=0.737(sensitivity 70%, specificity 83%) and 0.737 (sensitivity 60%, specificity 87%), respectively. The left ventricular myocardial mechanics strain curve of the CP,RCM and normal control were different. The CP patients presented as " rapidly down-a platform" form, the RCM presented as "slowly down" form, and normal control presented as "rapidly down" form. Conclusion: Evaluating the differences in the diastolic process of left ventricular myocardium and left ventricular myocardial mechanics strain curve is helpful to differentiate CP from RCM patients.
Cardiomyopathy, Restrictive ; Humans ; Magnetic Resonance Spectroscopy ; Myocardium ; Pericarditis, Constrictive ; Reproducibility of Results ; Ventricular Function, Left