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

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

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

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

OBJECTIVETo investigate the histopathological features of primary restrictive cardiomyopathy (PRCM).

METHODSNine extransplanted hearts from heart transplantation recipients were examined. Gross and histopathological findings were observed, photographed and final pathological diagnosis was compared to clinical diagnosis. The myocardial ultrastructure changes were determined using transmission electron microscopy.

RESULTSThe hallmark pathologic feature of PRCM was distinguished by myocardial cell degeneration and hyperplastic collagen fibrils around the myocardial cells.Fibrosis was severer in left ventricle free wall than in ventricular septum and right ventricle. The degree of myocardial cell degeneration and poloidal disorder were severer in patients with reduced ejection fraction (EF) than in patients with preserved EF. Transmission electron microscope evidenced severe interstitial fibrosis, myofibrillar changes of sarcomere structure, abnormalities both on intercalated disc number and distribution.

CONCLUSIONSPRCM is characterized by hyperplastic collagen fibrils around the cardiomyocytes. Fibrosis is severer in left ventricle than in right ventricle. Sarcomere dysplasia is the main cause of PRCM, and ultrastructural examination is helpful for PRCM diagnosis.

Cardiomyopathy, Restrictive ; surgery ; Fibrosis ; Heart Transplantation ; Heart Ventricles ; Humans ; Myocardium ; pathology ; Myocytes, Cardiac ; Sarcomeres