We examined the child-rearing environmental factors that affect the occurrence of sudden infant death syndrome (SIDS) using a nationwide survey. Infants who died due to SIDS between January 1996 and June 1997 in Japan were identified from death certificates. Controls of the same gender, birthplace, and birth months as the corresponding SIDS were chosen from birth certificates. Interviews of both cases and controls were undergone in January and February, 1998 by public health nurses. The following child-rearing factors exhibited a significant relationship with the occurrence of SIDS: Concerning the sleeping position, the prone position was associated with increased risk compared with the supine position, with an odds ratio of 3.02 (95% c.i. 2.07~4.65). Regarding the feeding method, artificial feeding alone demonstrated a higher risk than breast feeding alone, with an odds ratio of 4.92 (95% c.i. 2.78~9.63). With regard to smoking, infants with both parents who smoked exhibited a higher risk than infants where neither parent smoked, with an odds ratio of 3.50 (95% c.i. 1.74~8.32).
Sudden infant death syndrome ; occurrence ; Lower case sea ; Risk ; Affect

Objective: To evaluate the main triggers of recurrent cardiac events in patients with symptomatic congenital long QT syndrome (cLQTS). Methods: In this retrospective case analysis study, clinical characteristics were reviewed from 38 patients with recurrent cardiac events after first visit out of 66 symptomatic cLQTS patients. General clinical data such as gender, age, clinical presentation, family history and treatment were collected, auxiliary examination results such as electrocardiogram and gene detection were analyzed. LQTS-related cardiac events were defined as arrhythmogenic syncope, implantable cardioverter defibrillator (ICD) shock, inappropriate ICD shock, aborted cardiac arrest, sudden cardiac death or ventricular tachycardia. Results: A total of 38 patients with recurrent symptoms were enrolled in this study, including 30 females (79%) and 14 children (37%). The average age of onset was (15.6±14.6) years, and the recurrence time was (3.6±3.5) years. Subtype analysis showed that there were 11 cases (29%) of LQT1 (including 2 cases of jervel-Lange Nielson syndrome), 19 cases (50%) of LQT2, 5 cases (13%) of LQT3 and 3 cases (8%) of other rare subtypes (1 LQT5, 1 LQT7 and 1 LQT11) in this patient cohort. LQT1 patients experienced recurrent cardiac event due to drug withdrawal (6 (55%)), specific triggers (exercise and emotional excitement) (4 (36%)) and medication adjustment (1 (9%)). For LQT2 patients, main triggers for cardiac events were drug withdrawal (16 (84%)), specific triggers (shock, sound stimulation, waking up (6 (32%)). One patient (5%) had recurrent syncope after pregnancy. One patient (20%) had inappropriate ICD shock. For LQT3 patients, 4 (80%) patients developed syncope during resting state, and 1 (20%) developed ventricular tachycardia during exercise test. One LQT5 patients experienced syncope and ICD shock under specific triggers (emotional excitement). One LQT11 patient had repeated ICD shocks under specific inducement (fatigue). One LQT7 patient experienced inappropriate ICD shock. Left cardiac sympathetic denervation (LCSD) significantly alleviated the symptoms in 2 children with Jervell-Lange Nielson syndrome (JLNS) post ineffective β-blocker medication. Nadolol succeeded in eliminating cardiac events in one patient with LQT2 post ineffective metoprolol medication. Mexiletine significantly improved symptoms in 2 patients with LQT2 post ineffective β-blocker medication. Conclusions: Medication withdrawal is an important trigger of the recurrence of cardiac events among patients with symptomatic congenital long QT syndrome.
Adolescent ; Adult ; Child ; Child, Preschool ; Death, Sudden, Cardiac ; Electrocardiography ; Female ; Heart ; Humans ; Infant ; Long QT Syndrome ; Retrospective Studies ; Young Adult

Idiopathic long QT syndrome(LQTS) is an important cause of syncope, seizures, serious ventricular arrhythmias and sudden death in children. The abnormalities of AV conduction such as 2:1 AV block in children with LQTS is rarely reported. We reported two cases of 2:1 atrioventricualr block in infants with LQTS. Patient 1, a female newborn, revealed bradycardia(60 beats/min) and QTc of 0.65sec with 2:1 AV block at birth. She died of polymorphic ventricular tachycardia at 26days of age. Patient 2, a 2-month-old female, exhibited prolonged QT interval (QTc=0.54sec), 2:1 AV block, and intermittent Wenckebach conduction. After she received propranolol, sinus rhythm with 1:1 AV conduction and QTc of 0.5sec was seen. After a follow-up of 6 months, the infant is still doing well.
Arrhythmias, Cardiac ; Atrioventricular Block* ; Child ; Death, Sudden ; Female ; Follow-Up Studies ; Humans ; Infant* ; Infant, Newborn ; Long QT Syndrome* ; Parturition ; Propranolol ; Seizures ; Syncope ; Tachycardia, Ventricular

BACKGROUND: There has been a campaign by the National Education on Sleeping Habits and Living Environment, to reduce the incidence of sudden infant death syndrome (SIDS). However, more than 100 infants die suddenly and unexplainably before the age of 1 year in Korea. Long QT syndrome (LQTS), an inheritable cardiac disease, has been reported to likely be associated with up to 14% of SIDS cases. However, genetic studies of the association between SIDS and LQTS have not yet been conducted in Korea. METHODS: We conducted genetic analysis using genomic DNA extracted from paraffin-embedded tissue blocks from 200 SIDS cases autopsied between 2005 and 2013. We analyzed the following genetic mutations associated with LQTS, KCNQ1, SCN5A, KCNE1, KCNE2, KCNJ2, and CAV3. RESULTS: Of the 200 SIDS cases, 58% involved male infants (116 male and 84 female infants, respectively), the mean age was 140 days (median, 107 days; range, 24–270 days), and they were all of Asian-Korean ethnicity. SIDS IA category criteria comprised 45 cases (22.5%) while the rest were SIDS IB. Fifteen infants (7.5%) had R1193Q in SCN5A, of doubtful pathogenicity, and no pathogenic LQTS variants were observed. CONCLUSION: This genetic investigation of LQTS in SIDS showed a low diagnostic yield. These findings suggest that LQTS molecular autopsy could be cautiously conducted in selected cases with family involvement to improve the available genetic counseling information. Meanwhile, a national SIDS registry should be established to document and evaluate the genetic risk of SIDS in Korea.
Autopsy ; DNA ; Education ; Female ; Genetic Counseling ; Heart Diseases ; Humans ; Incidence ; Infant ; Korea* ; Long QT Syndrome* ; Male ; Retrospective Studies* ; Sudden Infant Death* ; Virulence

The congenital long-QT syndrome (LQTS) is characterized by recurrent syncope, prolonged QT intervals, QT interval lability, polymorphic ventricular tachycardia, and sudden death. We report a case of congenital long QT syndrome in a 28-day-old male infant who presented with syncope, bradycardia with 2: 1 pseudo-atrioventricular block and a markedly prolonged QT inteval. One episode occured after crying and degenerated into ventricular fibrillation and terminated after cardioversion. A VVI type cardiac pacemaker was implanted. Subsequently, the infant's heart rate was over 110/min and 2: 1 AV block and any other arrhythmia were absent. The infant recovered from the accompanied pneumonia and sepsis and was discharged 47 days after adrnission. However, 13 days after discharge, the infant returned to our hospital ER with syncope. Ventricular fibrillation ceased after cardioversion. Despite medication with propranolol, ventricular tachycardia persisted. The infant expired the day after he was discharged against medical advice.
Arrhythmias, Cardiac ; Atrioventricular Block* ; Bradycardia ; Crying ; Death, Sudden ; Electric Countershock ; Heart Rate ; Hospitals ; Humans ; Infant ; Long QT Syndrome ; Male ; Pneumonia ; Propranolol ; Sepsis ; Syncope ; Tachycardia, Ventricular ; Ventricular Fibrillation

Kawasaki disease is an acute febrile illness of unknown etiology that occurs predominantly in infants and early childhood. It had aroused intense interest because of the sequelae of coronary arteritis accompanied by coronary artery aneurysms and thrombotic occlusion, which may lead to ischemic heart disease or sudden death. Atypical Kawasaki disease is coined to describe patients who have coronary abnormalities, pathognomic findings of Kawasaki disease, but who do not exhibit at least four criteria of the disease. Giant coronary arterial aneurysm is a very rare complication after atypical Kawasaki disease, and in cases of coronary occlusion, the surface electrocardiograms usually show common ischemic changes. We report a case of right coronary arterial occlusion complicated after atypical Kawasaki disease. During 12 months, the serial electrocardiograms showed no evidence of ischemia, but coronary angiography disclosed giant aneurysms accompanied with occlusion and several collaterals in right side.
Aneurysm ; Arteritis ; Coronary Angiography ; Coronary Occlusion ; Coronary Vessels ; Death, Sudden ; Electrocardiography* ; Humans ; Infant ; Ischemia ; Mucocutaneous Lymph Node Syndrome ; Myocardial Ischemia ; Numismatics

PURPOSE: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disoder of beta oxidation of fatty acids and characterized by episodic hypoglycemia, vomiting, convulsion, encephalopathy, apnea, and sudden death related to fasting or infection resembling Reye syndrome or sudden infant death syndrome. In acute stage, mortality rate is very high and survivors have significant risk of developmental disability and chronic somatic illness. However, the high mortality and morbidity can be totally prevented by appropriate dietary management on the basis of early and accurate diagnosis. Recently, a single point mutation (A985G) in the MCAD gene has been described that accounts for most of MCAD deficiency. The prevalence of MCAD deficiency shows marked racial differences. And population-based DNA screening for this potentially fatal disorder might be justified in countries with high frequency of the mutation. The prevalence of A985G mutation in the MCAD gene was studied in neonates using Guthrie cards for neonatal screening. METHODS: Dried blood spots on Guthrie cards originally used for neonatal screening programs obtained from 500 live newborn babies born in a private obstetric clinic or Seoul Red Cross Hospital in Seoul during the period from Jan. 1, 1995 to Jul. 31, 1995 were collected. DNA was extracted from the dried blood spots, and a segment of the MCAD gene was amplified from the DNA using polymerase chain reaction technique. The PCR products were electrophoresed on a polyacrylamide gel after treatment of a restriction enzyme, NcoI. And the restriction pattern was analyzed with ethidium bromide staining of the gel. RESULTS: The PCR was successful with all DNAs from Guthrie cards. And the A to G transition at nucleotide position 985 in the MCAD gene was not demonstrated in any of the specimen. Conlusions : 1) The frequency of A985G mutation in the MCAD gene is extremely low in Korean population. 2) The methodology used in this study can be applied to population-based molecular genetic studies for other hereditary diseases.
Acyl-CoA Dehydrogenase* ; Apnea ; Death, Sudden ; Developmental Disabilities ; Diagnosis ; DNA ; Ethidium ; Fasting ; Fatty Acids ; Genetic Diseases, Inborn ; Genetics, Population ; Humans ; Hypoglycemia ; Infant, Newborn* ; Mass Screening ; Molecular Biology ; Mortality ; Neonatal Screening ; Point Mutation ; Polymerase Chain Reaction ; Prevalence* ; Red Cross ; Reye Syndrome ; Seizures ; Seoul ; Sudden Infant Death ; Survivors ; Vomiting

PURPOSE: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disoder of beta oxidation of fatty acids and characterized by episodic hypoglycemia, vomiting, convulsion, encephalopathy, apnea, and sudden death related to fasting or infection resembling Reye syndrome or sudden infant death syndrome. In acute stage, mortality rate is very high and survivors have significant risk of developmental disability and chronic somatic illness. However, the high mortality and morbidity can be totally prevented by appropriate dietary management on the basis of early and accurate diagnosis. Recently, a single point mutation (A985G) in the MCAD gene has been described that accounts for most of MCAD deficiency. The prevalence of MCAD deficiency shows marked racial differences. And population-based DNA screening for this potentially fatal disorder might be justified in countries with high frequency of the mutation. The prevalence of A985G mutation in the MCAD gene was studied in neonates using Guthrie cards for neonatal screening. METHODS: Dried blood spots on Guthrie cards originally used for neonatal screening programs obtained from 500 live newborn babies born in a private obstetric clinic or Seoul Red Cross Hospital in Seoul during the period from Jan. 1, 1995 to Jul. 31, 1995 were collected. DNA was extracted from the dried blood spots, and a segment of the MCAD gene was amplified from the DNA using polymerase chain reaction technique. The PCR products were electrophoresed on a polyacrylamide gel after treatment of a restriction enzyme, NcoI. And the restriction pattern was analyzed with ethidium bromide staining of the gel. RESULTS: The PCR was successful with all DNAs from Guthrie cards. And the A to G transition at nucleotide position 985 in the MCAD gene was not demonstrated in any of the specimen. Conlusions : 1) The frequency of A985G mutation in the MCAD gene is extremely low in Korean population. 2) The methodology used in this study can be applied to population-based molecular genetic studies for other hereditary diseases.
Acyl-CoA Dehydrogenase* ; Apnea ; Death, Sudden ; Developmental Disabilities ; Diagnosis ; DNA ; Ethidium ; Fasting ; Fatty Acids ; Genetic Diseases, Inborn ; Genetics, Population ; Humans ; Hypoglycemia ; Infant, Newborn* ; Mass Screening ; Molecular Biology ; Mortality ; Neonatal Screening ; Point Mutation ; Polymerase Chain Reaction ; Prevalence* ; Red Cross ; Reye Syndrome ; Seizures ; Seoul ; Sudden Infant Death ; Survivors ; Vomiting

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

Timothy syndrome, long QT syndrome type 8, is highly malignant with ventricular tachyarrhythmia. A 30-month-old boy had sudden cardiac arrest during anesthesia induction before plastic surgery for bilateral cutaneous syndactyly. After successful resuscitation, prolonged QT interval (QTc, 0.58-0.60 sec) and T-wave alternans were found in his electrocardiogram. Starting beta-blocker to prevent further tachycardia and collapse event, then there were no more arrhythmic events. The genes KCNQ1, KCNH2, KCNE1 and 2, and SCN5A were negative for long QT syndrome. The mutation p.Gly406Arg was confirmed in CACNA1C, which maintains L-type calcium channel depolarization in the heart and other systems.
Anesthesia/*adverse effects ; Calcium Channels, L-Type/*genetics ; Death, Sudden, Cardiac/*etiology ; Electroencephalography ; Humans ; Infant ; Long QT Syndrome/*genetics ; Magnetic Resonance Imaging ; Male ; Methyl Ethers/adverse effects ; Nitric Oxide/adverse effects ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA ; Surgery, Plastic ; Syndactyly/diagnosis/*genetics/surgery