Cardiomyopathies ; diagnosis ; pathology ; Humans

Cardiomyopathies ; pathology ; Cardiomyopathy, Dilated ; pathology ; Child ; Child, Preschool ; Humans

OBJECTIVE: To evaluate the echocardiographic diagnosis for ventricular non-compaction cardiomyopathy (NCCM) in foetus and to analyze the pathologic features of NCCM.
 METHODS: A total of 9 patients with fetal NCCM were examined by prenatal echocardiography from 2004 to 2013, which was compared with postnatal echocardiography or autopsy to analyze the fetal characteristic of myocardial ultrastructure.
 RESULTS: The results of echocardiography displayed an excessive muscle trabecular meshwork and muscle trabecular crypt, and the ventricular myocardium and non-compaction/compaction ratio was ≥2.0. Among the 9 fetuses of NCCM, 6 fetuses were involved in left ventricle, 2 in both left and right ventricles and 1 in right ventricle. Two fetuses were confirmed by postnatal echocardiography, the remaining 7 patients were chosen to terminate their pregnancies, which were confirmed by autopsy later. Muscle biopsies revealed the abnormal myocardial mitochondria, sarcomeres and myocardial fibrosis.
 CONCLUSION It is feasible to accurately diagnose NCCM by prenatal echocardiography. Fetal NCCM most often involves the left ventricle, but it can involve the right ventricle or both, too. The myocardial ultrastructure of fetal NCCM possesses certain unique characteristics, such as the low maturation of the mitochondria, sarcomeres and myocardial fibers.
Cardiomyopathies ; diagnosis ; Echocardiography ; Fetus ; Heart Ventricles ; pathology ; Humans ; Myocardium ; pathology

Angina Pectoris ; complications ; Cardiomyopathies ; complications ; pathology ; Female ; Humans ; Middle Aged

Acute Disease ; Aged ; Cardiomyopathies ; diagnosis ; etiology ; pathology ; China ; Female ; Humans

Cardiomyopathies ; congenital ; Heart Ventricles ; pathology ; Humans ; Infant, Newborn ; Male ; Myocardium ; pathology

Cardiomyopathies ; diagnosis ; pathology ; Echocardiography ; Heart Ventricles ; pathology ; Humans ; Magnetic Resonance Imaging ; Young Adult

Noncompaction of ventricular myocardium (NVM) is a rare cardiomyopathy. For the past few years, there have been more clinical reports and related scientific researches on NVM. It is one of the hottest topics in the field of clinical cardiovascular science. NVM is rare, but usually leads to fatal results, such as sudden unexpected death. Most forensic medical examiners in China have not recognized the importance of this disease. There are no good forensic pathological methods yet to identify this disease. Furthermore, NVM is easily to be confused with other types of heart diseases. As a result, we should be very careful about NVM, and understand the importance of making right diagnosis of NVM. This review focuses on NVM's pathological features, clinical diagnostic methods, and differential diagnosis from other cardiac disease. The key points on how to make right forensic pathological diagnosis of NVM have also been summarized.
Cardiomyopathies/pathology* ; Death, Sudden, Cardiac ; Diagnosis, Differential ; Forensic Pathology ; Heart Ventricles ; Humans

Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are characterized by cardiac dysrhythmias, late-onset cardiomyopathy, slowly progressive skeletal myopathy and contractures of the neck, elbows and ankles. The causative mutation is either in the emerin gene (X-linked recessive EDMD) or lamin A/C gene (autosomal dominant EDMD2 or LGMD1B). We report three cases of EDMD, EDMD2 and LGMD1B. A 14-yr-old boy showed limitation of cervical flexion and contractures of both elbows and ankles. Sinus arrest with junctional escape beats was noted. He was diagnosed as X-linked recessive EDMD (MIM 310300). A 28-yr-old female showed severe wasting and weakness of humeroperoneal muscles. Marked limitation of cervical flexion and contractures of both elbows and ankles were noted. Varying degrees of AV block were noted. She was diagnosed as autosomal dominant EDMD2 (MIM 181350). A 41-yr-old female had contractures of both ankles and limb-girdle type muscular dystrophy. ECG revealed atrial tachycardia with high grade AV block. She was diagnosed as autosomal dominant LGMD1B (MIM 159001). Cardiac dysrhythmias in EDMD and LGMD1B include AV block, bradycardia, atrial tachycardia, atrial fibrillation, and atrial standstill, causing sudden death necessitating pacemaker implantation. Cardiologists should know about these unusual genetic diseases with conduction defects, especially in young adults.
Adolescent ; Adult ; Arrhythmia/*etiology ; Cardiomyopathies/*etiology ; Female ; Humans ; Male ; Muscle, Skeletal/*pathology ; Muscular Dystrophies, ; Muscular Dystrophy,

Calcinosis ; Cardiomyopathies ; complications ; pathology ; Heart Ventricles ; Humans ; Male ; Middle Aged ; Tachycardia, Ventricular ; etiology