Sudden unexplained nocturnal death syndrome （SUNDS） is always a difficulty in forensic medicine researches. Although the development of molecular genetics promotes the etiologic study of SUNDS, the pathogenesis of most such cases is still unclear. Sleep apnea syndrome （SAS） is one of the common forms of sleep disorders, and obstructive sleep apnea hypopnea syndrome （OSAHS） is the most common. In recent years, some domestic and international researches show that OSAHS is related to the development of cardiovascular disease, which may cause cardiac arrhythmia, even sudden death. This article reviews the relationship between SUNDS and OSAHS and aims to provide new ideas for the pathogenesis of SUNDS.
Arrhythmias, Cardiac ; Brugada Syndrome/pathology* ; Death, Sudden/etiology* ; Humans ; Male ; Sleep Apnea, Obstructive/pathology*

BACKGROUNDThere remains controversy about whether Brugada syndrome (BS) has structural heart changes. We occasionally noted that a patient with BS had a quite unusual regional wall motion abnormality at the basal segment of the interventricular septum (IVS) during echocardiographic examination. The unexpected finding promoted us to reexamine our patients with BS by echocardiographic interrogation in the present study.

METHODSPatients with BS (n = 11), patients with complete right bundle branch block (RBBB) (n = 11), and control subjects (n = 11) were enrolled in this study. Two-dimensional echocardiography (2DE) was performed to obtain parasternal left ventricular long axis view on which M-mode scanning line was adjusted to be perpendicular to the basal segment of IVS for delineation of the segmental motion curve, with a simultaneously electrocardiographic tracing.

RESULTS2DE revealed a rapid swing motion shifting toward the right ventricle of the IVS basal segment at early systole in 73% (8/11) patients with BS, which was further confirmed on the M-mode curve evidenced by an early systolic notch toward the right ventricle. The position of the notch corresponded to C-point on the mitral motion curve, lasting for (53 +/- 5) ms. There were no similar changes both in patients with RBBB and in the control subjects.

CONCLUSIONIVS basal motion abnormalities at early-systolic phase may be the novel finding of BS.

Adult ; Aged ; Brugada Syndrome ; diagnostic imaging ; pathology ; physiopathology ; Echocardiography ; methods ; Female ; Humans ; Male ; Middle Aged ; Systole ; Ventricular Septum ; pathology ; physiopathology

Arrhythmias, Cardiac ; diagnosis ; Brugada Syndrome ; Cardiac Conduction System Disease ; Coronary Vessels ; pathology ; Heart Conduction System ; abnormalities ; Humans ; Male ; Middle Aged

Sudden cardiac death accounts for majority of deaths in human. Evident cardiac lesions that may explain the cause of death can be detected in comprehensive postmortem investigation in most sudden cardiac death. However, no cardiac morphological abnormality is found in a considerable number of cases although the death is highly suspected from cardiac anomaly. With the advances in the modern molecular biology techniques, it has been discovered that many of these sudden deaths are caused by congenital ion channelopathies in myocardial cell, i.e., Brugada syndrome, long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and short QT syndrome, etc. This article presents the molecular genetics, electrocardiographic abnormalities, clinical manifestations, and mechanisms leading to sudden cardiac death with emphasis on the role of postmortem genetic testing in certification of cause of death. It may provide helpful information in investigating sudden cardiac death due to ion channelopathies in medico-legal practice.
Arrhythmias, Cardiac/genetics* ; Autopsy/methods* ; Brugada Syndrome/genetics* ; Cause of Death ; Channelopathies/genetics* ; Death, Sudden, Cardiac/pathology* ; Electrocardiography ; Forensic Pathology ; Genetic Testing ; Heart Conduction System/physiopathology* ; Humans ; Ion Channels/genetics* ; Long QT Syndrome/genetics* ; Mutation ; Tachycardia, Ventricular/genetics*

Arrhythmias, Cardiac ; diagnosis ; genetics ; pathology ; Brugada Syndrome ; diagnosis ; genetics ; pathology ; Channelopathies ; diagnosis ; genetics ; pathology ; DNA Mutational Analysis ; Electrocardiography ; Genetic Testing ; Heart Conduction System ; physiopathology ; Humans ; Infant ; Long QT Syndrome ; diagnosis ; genetics ; pathology ; Muscle Proteins ; genetics ; Mutation ; NAV1.5 Voltage-Gated Sodium Channel ; genetics ; Sodium Channels ; genetics ; Sudden Infant Death ; etiology