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 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*

BACKGROUND: Cardiac transplantation has been established as a treatment of choice for patients with end- stage heart failure. However, the experiences of cardiac transplantation are still limited in Korea. METHODS: Seventeen adult cardiac transplantations (13 males and 4 females) were performed in Seoul National University Hospital since March 1994. Clinical outcome & course, acute rejection, and complications among transplanted patients were reviewed. RESULTS: Underlying cardiac conditions leading to cardiac transplantation were dilated cardiomyopathy in 9, valvular heart disease with severe LV dysfunction after prosthetic valve replacement in 3, restrictive cardiomyopathy in 2, ischemic cardiomyopathy in 1, intractable ventricular tachyarrhythmia in 1 and hypertrophic cardiomyopathy with severe LV dysfunction in 1 patient. Ages of recipients were between 22 and 54 (median:38). Mean follow up duration was 27 months (1-45 months). The frequencies of rejection decreased with time and were similar to those of previous reports: 1.23 episodes of rejections per patients during first 3months after transplantation, 0.25 during second 3months, 0.17 and 0.08 during third and fourth 3 months. Infectious complications developed in 21.4% of patients during the first year after transplantation and infectious agents were Cytomegalovirus (CMV), gram negative bacteria, and Candida. One-year survival rate of recipients was 81.9%. Systemic CMV infection in 1, aortic rupture in 1, and sudden death in 1 patient were the causes of mortality, all of which developed during early post-transplantation period. CONCLUSION: Cardiac transplantation seems to be a reasonable therapeutic regimen for patient with end stage heart failure even in this country with limited experience; however, close attention and management against acute rejection and infectious complications, especially during the early post-transplantation period, are critical for long term survival.
Adult* ; Aortic Rupture ; Candida ; Cardiomyopathies ; Cardiomyopathy, Dilated ; Cardiomyopathy, Hypertrophic ; Cardiomyopathy, Restrictive ; Cytomegalovirus ; Death, Sudden ; Follow-Up Studies ; Gram-Negative Bacteria ; Heart Failure ; Heart Transplantation* ; Heart Valve Diseases ; Humans ; Korea ; Male ; Mortality ; Seoul ; Survival Rate ; Tachycardia

BACKGROUNDAlthough endomyocardial biopsy (EMB) plays a crucial role in the final diagnosis in patients with heart failure of unknown etiology, the invasive nature of this technique limits its clinical application in China. The purpose of this study was to evaluate the clinical application of EMB in diagnosing cardiomyopathy with unexplained etiologies in China.

METHODSFifty-three consecutive patients (38 males, age 14 - 67 years, median 43 years) were included in the study who were initially diagnosed as unexplained cardiomyopathy and under EMB biopsy in Peking Union Medical College Hospital from 2006 to 2009. The patients were clinically divided into four groups: dilated, hypertrophic, restrictive and unclassified cardiomyopathy. Biopsies were performed via right internal jugular vein with the use of the bioptome under fluoroscopic guidance. Three to five endomyocardial samples were taken from each patient for light microscopy examination and one sample for electron microscopy was taken if necessary. For each patient, an initial clinical diagnosis, an EMB diagnosis and a final diagnosis prior to discharge were established. All the data were compared and analyzed for the evaluation of clinical utility of EMB in China.

RESULTSIn 26 patients initially diagnosed with restrictive cardiomyopathy (RCM), the etiology of the condition was finally diagnosed using EMB in 15; including 13 amyloidosis and two eosinophilic myocarditis. We employed EMB in 19 patients clinically diagnosed as dilated cardiomyopathy and detected viral myocarditis in one patient, cardiac involvement due to polymyositis in four and doxorubicin-induced cardiomyopathy in one. In five patients with severe left ventricle hypertrophy undergoing EMB, one patient was diagnosed as autophagic vacuolar cardiomyopathy and one as mitochondrial disease. In the remaining three patients with unclassified cardiomyopathy, EMB revealed infiltration of eosinophils as the cause of atrial ventricular block in one patient. Final diagnoses were made in 24 of the total 53 patients (45%) based on the combination of EMB and clinical data. Transient atrial ventricular block in a patient with prior complete left bundle branch block was the only complication occurred during the procedures.

CONCLUSIONThe clinical application of EMB is safe. The combination of EMB and clinical data produced a better understanding of the mechanisms behind the clinically diagnosed cardiomyopathy in China.

Adolescent ; Adult ; Aged ; Biopsy ; methods ; Cardiomyopathies ; classification ; diagnosis ; pathology ; Cardiomyopathy, Dilated ; diagnosis ; pathology ; Cardiomyopathy, Hypertrophic ; diagnosis ; pathology ; Cardiomyopathy, Restrictive ; diagnosis ; pathology ; Female ; Humans ; Male ; Middle Aged ; Myocardium ; pathology ; Young Adult

Humans ; Cardiomyopathy, Hypertrophic ; Phenotype ; Cardiomyopathy, Restrictive

Genetic diagnosis of cardiomyopathies is challenging, due to the marked genetic and allelic heterogeneity and the lack of knowledge of the mutations that lead to clinical phenotypes. Here, we present the case of a large family, in which a single TNNI3 mutation caused variable phenotypic expression, ranging from restrictive cardiomyopathy (RCMP) to hypertrophic cardiomyopathy (HCMP) to near-normal phenotype. The proband was a 57-year-old female with HCMP. Examining the family history revealed that her elder sister had expired due to severe RCMP. Using a next-generation sequencing-based gene panel to analyze the proband, we identified a known TNNI3 gene mutation, c.433C>T, which is predicted to cause an amino acid substitution (p.Arg145Trp) in the highly conserved inhibitory region of the cardiac troponin I protein. Sanger sequencing confirmed that six relatives with RCMP or near-normal phenotypes also carried this mutation. To our knowledge, this is the first genetically confirmed family with diverse phenotypic expression of cardiomyopathies in Korea. Our findings demonstrate familial implications, where a single mutation in a sarcomere protein can cause diverse phenotypic expression of cardiomyopathies.
Amino Acid Substitution ; Cardiomyopathies* ; Cardiomyopathy, Hypertrophic ; Cardiomyopathy, Restrictive ; Diagnosis ; Female ; Humans ; Korea ; Middle Aged ; Phenotype ; Population Characteristics ; Sarcomeres ; Siblings ; Troponin I

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

Although hypertrophic cardiomyopathy (HCM) may cause heart failure, HCM and dilated cardiomyopathy (DCM) are generally recognized as separate diseases. This report describes two cases of maternally inherited familial HCM, which, after pregnancy, rapidly deteriorated to heart failure and cardiac chamber dilatation, resembling DCM. Some members of this family also suffered sudden cardiac death (SCD).
Cardiomyopathy, Dilated ; Cardiomyopathy, Hypertrophic ; Cardiomyopathy, Hypertrophic, Familial* ; Death, Sudden, Cardiac* ; Dilatation ; Heart Failure ; Humans ; Pregnancy*

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

Cardiomyopathy, Dilated ; Cardiomyopathy, Hypertrophic ; genetics ; Humans ; Mutation