Cardiomyopathy, Dilated ; pathology ; Cardiomyopathy, Hypertrophic ; pathology ; Diagnosis, Differential ; Fetal Diseases ; pathology ; Fetus ; Heart Neoplasms ; pathology ; Humans ; Myocardium ; pathology ; Ventricular Dysfunction, Left ; pathology

OBJECTIVEIt is difficult to differentiate the causes of dilated cardiomyopathy only by clinical evaluation and image analysis. Pathomorphologic examinations on diseased hearts may help to improve the diagnosis accuracy.

METHODSFifty-six extransplanted hearts from June, 2004 to June, 2006 were examined. Gross and histopathological findings were recorded, photographed and final pathological diagnosis was compared to clinical diagnosis.

RESULTSDilations were caused by sole myocardial wall damage in 38 (67.9%) of the 56 patients, including 19 primary dilated cardiomyopathy, 9 arrhythmogenic right ventricular cardiomyopathy, 1 non-compaction cardiomyopathy, 6 ischemic cardiomyopathy, 1 alcoholic cardiomyopathy, 1 hypertensive cardiomyopathy and 1 giant cell myocarditis. The clinical and pathological diagnoses were different in 15 cases (39.5%). The most discrepancies were arrhythmogenic right ventricular cardiomyopathy (77.8%), ischemic cardiomyopathy (83.3%), and giant cell myocarditis (100%).

CONCLUSIONSThis pathological study of recipient hearts showed a high portion of patients with arrhythmogenic right ventricular cardiomyopathy and ischemic cardiomyopathy were misdiagnosed as primary cardiomyopathy. Correct diagnosis of primary cardiomyopathy needs to rule out possible secondary causes of myocardial dilation.

Adolescent ; Adult ; Cardiomyopathy, Dilated ; diagnosis ; pathology ; Cardiomyopathy, Hypertrophic ; diagnosis ; pathology ; Female ; Heart Transplantation ; Humans ; Male ; Middle Aged ; Myocardial Ischemia ; pathology ; Myocardium ; pathology ; Young Adult

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

Thirty three cases of hypertrophic cardiomyopathy (HCMP) were reviewed to estimate the relative frequencies of the subtypes of HCMP and to clarify whether there is any racial difference in clinical and morphological features of HCMP. The diagnosis was made by echocardiography, cardiac catheterization and left ventriculography. Twenty four patients underwent coronary angiogram. Numbers of cases by the types of HCMP were 20 (61%) with asymmetrical septal hypertrophy (ASH), 11 (33%) with apical hypertrophy (APH) and 2 (6%) with midventricular hypertrophy (MVH). Mean ages of the patients with APH, ASH and MVH were 54, 46 and 31 years respectively, and the differences were statistically significant (p less than 0.05). The giant negative T wave on electrocardiogram was seen in 4 patients (20%) of ASH and 5 patients (45%) of APH. On echocardiogram mean ratio of interventricular septal to left ventricular posterior wall thickness was 1.9 in ASH, 1.2 in APH and 1.6 in MVH, and the differences were statistically significant (p less than 0.05). All patients with APH showed "spade of ace" deformity in left ventriculography. Coronary angiograms were normal in all patients who had the procedure. Our study showed high frequency of APH of which characteristics were similar to those of the Japanese type APH.
Adult ; Age Factors ; Aged ; Cardiomyopathy, Hypertrophic/diagnosis/*pathology ; Echocardiography ; Electrocardiography ; Female ; Humans ; Korea/epidemiology ; Male ; Middle Aged ; Sex Factors

OBJECTIVETo investigate the clinicopathologic manifestations of non-compaction of ventricular myocardium (NVM).

METHODSClinical data, electrocardiograms, echocardiography images and pathologic changes were studied in five cases of non-compaction of ventricular myocardium.

RESULTSThe patient's ages ranged from 29 to 57 years old, all were males. Abnormal electrocardiograms were obtained in all of the 5 cases. Among them, 3 were diagnosed using echocardiography. Histopathologic examination showed that there were abnormally coarse muscle trabeculation and deep recesses, interlacing in arrangement, over the inner wall of the heart chambers. The compacted myocardium became thinning down gradually from the base to the apex of the heart. The non-compacted myocardium bundles locating close to the endocardium were coarse and orderless in arrangement, nuclei were irregular and abnormal, nevertheless, the arrangement and appearance of the muscle bundles near by the pericardium part were essentially normal and the cell nuclei were evenly distributed.

CONCLUSIONThere are no specific clinical manifestations obtained in patients with non-compaction of ventricular myocardium, however, the pathologic changes are characteristic and a clinical diagnosis can be made by using echocardiography.

Adult ; Cardiomyopathy, Dilated ; diagnostic imaging ; pathology ; Cardiomyopathy, Hypertrophic ; diagnostic imaging ; pathology ; Diagnosis, Differential ; Electrocardiography ; Heart Ventricles ; pathology ; Humans ; Isolated Noncompaction of the Ventricular Myocardium ; diagnostic imaging ; pathology ; Male ; Middle Aged ; Myocardium ; pathology ; Ultrasonography

Objective: To investigate the representability and etiological diagnostic value of myocardium samples obtained from patients with hypertrophic cardiomyopathy (HCM) by transthoracic echocardiography-guided percutaneous intramyocardial septal biopsy (myocardial biopsy of Liwen procedure). Methods: This study was a retrospective case-series analysis. Patients with HCM, who underwent myocardial biopsy of Liwen procedure and radiofrequency ablation in Xijing Hospital, Air Force Military Medical University from July to December 2019, were included. Demographic data (age, sex), echocardiographic data and complications were collected through electronic medical record system. The histological and echocardiographic features, pathological characteristics of the biopsied myocardium of the patients were analyzed. Results: A total of 21 patients (aged (51.2±14.5) years and 13 males (61.9%)) were enrolled. The thickness of ventricular septum was (23.3±4.5)mm and the left ventricular outflow tract gradient was (78.8±42.6)mmHg (1 mmHg=0.133 kPa). Eight patients (38.1%) were complicated with hypertension, 1 patient (4.8%) had diabetes, and 2 patients (9.5%) had atrial fibrillation. Hematoxylin-eosin staining of myocardial samples of HCM patients before radiofrequency ablation evidenced myocytes hypertrophy, myocytes disarray, nuclear hyperchromatism, hypertrophy, atypia, coronary microvessel abnormalities, adipocyte infiltration, inflammatory cell infiltration, cytoplasmic vacuoles, lipofuscin deposition. Interstitial fibrosis and replacement fibrosis were detected in Masson stained biopsy samples. Hematoxylin-eosin staining of myocardial samples of HCM patients after radiofrequency ablation showed significantly reduced myocytes, cracked nuclear in myocytes, coagulative necrosis, border disappearance and nuclear fragmentation. Quantitative analysis of myocardial specimens of HCM patients before radiofrequency ablation showed that there were 9 cases (42.9%) with mild myocardial hypertrophy and 12 cases (57.1%) with severe myocardial hypertrophy. Mild, moderate and severe fibrosis were 5 (23.8%), 9 (42.9%) and 7 (33.3%), respectively. Six cases (28.6%) had myocytes disarray. There were 11 cases (52.4%) of coronary microvessel abnormalities, 4 cases (19.0%) of adipocyte infiltration, 2 cases (9.5%) of inflammatory cell infiltration,6 cases (28.5%) of cytoplasmic vacuole, 16 cases (76.2%) of lipofuscin deposition. The diameter of cardiac myocytes was (25.2±2.8)μm, and the percentage of collagen fiber area was 5.2%(3.0%, 14.6%). One patient had severe replacement fibrosis in the myocardium, with a fibrotic area of 67.0%. The rest of the patients had interstitial fibrosis. The myocardial specimens of 13 patients were examined by transmission electron microscopy. All showed increased myofibrils, and 9 cases had disorder of myofibrils. All patients had irregular shape of myocardial nucleus, partial depression, mild mitochondrial swelling, fracture and reduction of mitochondrial crest, and local aggregation of myofibrillary interfascicles. One patient had hypertrophy of cardiomyocytes, but the arrangement of muscle fibers was roughly normal. There were vacuoles in the cytoplasm, and Periodic acid-Schiff staining was positive. Transmission electron microscopy showed large range of glycogen deposition in the cytoplasm, with occasional double membrane surround, which was highly indicative of glycogen storage disease. No deposition of glycolipid substance in lysozyme was observed under transmission electron microscope in all myocardial specimens, which could basically eliminate Fabry disease. No apple green substance was found under polarized light after Congo red staining, which could basically exclude cardiac amyloidosis. Conclusion: Myocardium biopsied samples obtained by Liwen procedure of HCM patients are representative and helpful for the etiological diagnosis of HCM.
Biopsy/adverse effects* ; Cardiomegaly/pathology* ; Cardiomyopathy, Hypertrophic/diagnosis* ; Eosine Yellowish-(YS) ; Fibrosis ; Heart Defects, Congenital ; Hematoxylin ; Humans ; Lipofuscin ; Male ; Myocardium/pathology* ; Retrospective Studies

We report a case of acute left ventricular failure at one hour after transcatheter closure of a secundum atrial septal defect (ASD) in a 28-year-old man with hypertrophic cardiomyopathy. Afforded noninvasive mechanical ventilation and the administration of intravenous morphine and high doses of furosemide, the patient exhibited improvement of his clinical condition, reduction of pulmonary congestion at chest X-ray, and satisfactory blood gas analyses in twelve hours. Twenty-four hours later, the patient received oral administration of furosemide and metoprolol. After 7 days the patient was discharged in good clinical condition. At follow-up at 12 months, the patient had remained symptomatically improved from NYHA Class III symptoms before the procedure to Class II symptoms. There was no latent arrhythmia at the follow-up examination. Follow-up transthoracic echocardiography estimated an improvement of the left ventricular function. So, transcatheter closure of a secundum ASD in a patient with hypertrophic cardiomyopathy is feasible, and a thorough understanding of the hemodynamic condition of ASD and hypertrophic cardiomyopathy will reduce the complication of ASD closure.
Adult ; Cardiac Catheterization ; Cardiomyopathy, Hypertrophic ; physiopathology ; therapy ; Echocardiography ; Heart Failure ; diagnosis ; pathology ; Heart Septal Defects, Atrial ; physiopathology ; therapy ; Humans ; Male ; Ventricular Function, Left

A 29-year old male was transferred to our hospital with an abnormal chest X-ray finding diagnosed as hypertrophic cardiomyopathy with apical necrosis and aneurysm formation. Four years after the initial hospitalization, we confirmed the aneurysm and necrosis using both integrated positron emission tomography (PET) and computed tomography (CT) scanning. The F-18 2-fluoro-2-deoxy-D-glucose (FDG) PET/CT enabled precise localization of the aneurysm, which was found to be composed of semi-lunar calcification of non-metabolic myocardium. A contrast-enhanced CT angiography showed an hour-glass appearance of the left ventricular cavity. The integrated PET/CT fusion scanner is a novel multimodality technology that allows for a comprehensive analysis of the anatomical and functional status of complex heart disease. Based on these findings, long standing mechanical and physiologic abnormalities may have led to chronic ischemia in the hypertrophied myocardium, induced necrosis and calcification at the cardiac apex.
Tomography, X-Ray Computed ; Positron-Emission Tomography ; Necrosis/complications/*diagnosis ; Male ; Humans ; Heart Ventricles/*pathology ; Heart Aneurysm/complications/*diagnosis ; Fluorodeoxyglucose F18/diagnostic use ; Contrast Media ; Cardiomyopathy, Hypertrophic/complications/*diagnosis ; Angiography, Digital Subtraction ; Adult

Since the pathology of hypertrophic cardiomyopathy was first described by French pathologists in the mid 19th century, many research papers and extensive reviews for the diverse clinical, pathological and genetics related findings have been published. The common term of hypertrophic cardiomyopathy was suggested to be used by the recommendation of the world health organization in 1980. The characteristic findings have been inappropriate myocardial hypertrophy occurring in the absence of any obvious cause such as aortic stenosis or systemic hypertension, which predominantly involved the interventricular septum in the hyperdynamic and nondilated left ventricle. Hypertrophic cardiomyopathy, initially thought to be rare, is now proved to be an important cause of morbidity and mortality across all ages. It occurs in 1 in 500 live births, and in approximately half of these cases is transmitted as an autosomal dominant trait thus becoming the most common cause of sudden death during exercise in young people. Recently, molecular genetic studies have revealed that it is a heterogeneous disease of the sarcomere in which more than 150 different mutations across 10 sarcomeric proteins are involved, and that the phenotypic manifestation and prognosis varies markedly depending on variations in genetic mutations. Consequently, genetic diagnosis is expected to be available within a few years and able to be used for early diagnosis, prevention and treatment of hypertrophic cardiomyopathy in addition to the currently available morphological and functional diagnosis by two-dimensional and Doppler echocardiography.
Aortic Valve Stenosis ; Cardiomyopathy, Hypertrophic* ; Death, Sudden ; Diagnosis ; Early Diagnosis ; Echocardiography ; Echocardiography, Doppler ; Genetics ; Heart Ventricles ; Hypertension ; Hypertrophy ; Live Birth ; Molecular Biology ; Mortality ; Pathology ; Prognosis ; Sarcomeres ; World Health Organization

OBJECTIVEMitochondrial disease is a group of energy metabolic disorders, characterized by involvement of multisystem with high energy requirements. Encephalomyopathies are common clinical findings of the mitochondrial diseases. However, mitochondrial cardiac damage is not rare. In this study, the clinical, biological, and genetic analyses were performed in three patients with mitochondrial cardiac damage, in order to understand the characteristics of mitochondrial diseases.

METHODThree girls presented with arrhythmia and cardiac enlargement from the age of 3, 4 and 8 years respectively. They were admitted into the Peking University First Hospital. Infection, autoimmune diseases, aminoacidopathies, organic acidurias, mitochondrial-fatty acid oxidation defects, and lysosomal storage disease were excluded by routine laboratory examinations and metabolic analysis for blood amino acids, acylcarnitines, urinary organic acids, and lysosome activity assay. Peripheral leukocytes mitochondrial respiratory chain enzyme I to V activities were measured by spectrophotometry. The entire sequence of the mitochondrial DNA was analyzed.

RESULTIn two patients (case 1 and case 3), hypertrophic cardiomyopathy and grade I to grade II of cardiac function were found. One patient (case 2) was diagnosed with arrhythmia and grade I of cardiac function. Increased creatine phosphokinase and creatine kinase isoenzyme MB were observed. Mitochondrial respiratory chain complex deficiencies were indentified in the three patients. Patient 1 had combined deficiencies of complex III and V. The activity of complex I+III was 18.7 nmol/(min·mg mitochondrial protein) (control 84.4 ± 28.5). The activity of complex V was 20.4 nmol/(min·mg mitochondrial protein) (control 103.7 ± 29.2). In her mitochondrial gene, A14693G on tRNA(Glu) and T16519C on D-loop were found. Patient 2 had an isolated complex I deficiency. The activity was 22.0 nmol/(min·mg mitochondrial protein) (control 44.0 ± 5.4). A16183C, T16189C and G15043A mutations on D-loop were found. Patient 3 had a combined deficiency of complex IV and V. The activity of complex IV was 21.0 nmol/(min·mg mitochondrial protein) (control 54.1 ± 12.3). The activity of complex V was 23.2 nmol/(min·mg mitochondrial protein) (control 103.7 ± 29.2). C253T and C16187T mutations on D-loop were detected. Haplotype analysis showed that three patients belong to H2a2a. Improvement was observed after the treatment with L-carnitine, coenzyme Q10, vitamin C and E. At present, the patients are 7, 5 and 8 years old. Although excise intolerance still persists, they had a good general condition with normal school life.

CONCLUSIONThe mitochondrial diseases with cardiac damage show cardiomyopathy, arrhythmia and exercise intolerance. Many kinds of mitochondrial respiratory chain deficiency were observed. A14693G in mitochondrial tRNA(Glu) gene is probably one of the causes in China.

Arrhythmias, Cardiac ; diagnosis ; genetics ; metabolism ; Biomarkers ; blood ; urine ; Cardiomyopathy, Hypertrophic ; diagnosis ; genetics ; metabolism ; Child ; Child, Preschool ; DNA Mutational Analysis ; DNA, Mitochondrial ; genetics ; Electron Transport Chain Complex Proteins ; deficiency ; genetics ; metabolism ; Female ; Humans ; Male ; Mitochondria, Heart ; enzymology ; pathology ; Mitochondrial Diseases ; diagnosis ; genetics ; metabolism ; Mutation