{"title":"胎儿心动过缓与左心室不压实相关,诊断为HCN4突变。","authors":"Kosuke Yonehara","doi":"10.4103/apc.apc_138_24","DOIUrl":null,"url":null,"abstract":"<p><p>A 35-year-old pregnant woman was referred to our hospital because of fetal bradycardia. Fetal echocardiography revealed a normal fetal heart except for slightly prominent trabeculae in the left ventricle, normal cardiac function, and fetal sinus bradycardia with a heart rate of 100 bpm. Electrocardiography (ECG) after birth revealed sinus bradycardia with a heart rate of 70-80 bpm. Transthoracic echocardiography revealed left ventricular noncompaction localized in the apex with normal cardiac function. A 24-h Holter ECG showed a heart rate range of 62-169 bpm without a pause of more than 2 s. A genome analysis performed during the neonatal period revealed a heterozygous inflame variant p.(Ser672_Asp676del)[chr15:g. 73324203_733242] in HCN4 gene. Fetuses with a heart rate less than the 3<sup>rd</sup> percentile of the gestational age should be followed and screened for congenital heart disease and cardiomyopathy. In addition, inherited arrhythmia syndrome should be considered.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":"17 4","pages":"295-297"},"PeriodicalIF":0.9000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11651398/pdf/","citationCount":"0","resultStr":"{\"title\":\"Fetal bradycardia associated with left ventricle noncompaction diagnosed as HCN4 mutations.\",\"authors\":\"Kosuke Yonehara\",\"doi\":\"10.4103/apc.apc_138_24\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A 35-year-old pregnant woman was referred to our hospital because of fetal bradycardia. Fetal echocardiography revealed a normal fetal heart except for slightly prominent trabeculae in the left ventricle, normal cardiac function, and fetal sinus bradycardia with a heart rate of 100 bpm. Electrocardiography (ECG) after birth revealed sinus bradycardia with a heart rate of 70-80 bpm. Transthoracic echocardiography revealed left ventricular noncompaction localized in the apex with normal cardiac function. A 24-h Holter ECG showed a heart rate range of 62-169 bpm without a pause of more than 2 s. A genome analysis performed during the neonatal period revealed a heterozygous inflame variant p.(Ser672_Asp676del)[chr15:g. 73324203_733242] in HCN4 gene. Fetuses with a heart rate less than the 3<sup>rd</sup> percentile of the gestational age should be followed and screened for congenital heart disease and cardiomyopathy. In addition, inherited arrhythmia syndrome should be considered.</p>\",\"PeriodicalId\":8026,\"journal\":{\"name\":\"Annals of Pediatric Cardiology\",\"volume\":\"17 4\",\"pages\":\"295-297\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11651398/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Pediatric Cardiology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/apc.apc_138_24\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/11/15 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Pediatric Cardiology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/apc.apc_138_24","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/11/15 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
Fetal bradycardia associated with left ventricle noncompaction diagnosed as HCN4 mutations.
A 35-year-old pregnant woman was referred to our hospital because of fetal bradycardia. Fetal echocardiography revealed a normal fetal heart except for slightly prominent trabeculae in the left ventricle, normal cardiac function, and fetal sinus bradycardia with a heart rate of 100 bpm. Electrocardiography (ECG) after birth revealed sinus bradycardia with a heart rate of 70-80 bpm. Transthoracic echocardiography revealed left ventricular noncompaction localized in the apex with normal cardiac function. A 24-h Holter ECG showed a heart rate range of 62-169 bpm without a pause of more than 2 s. A genome analysis performed during the neonatal period revealed a heterozygous inflame variant p.(Ser672_Asp676del)[chr15:g. 73324203_733242] in HCN4 gene. Fetuses with a heart rate less than the 3rd percentile of the gestational age should be followed and screened for congenital heart disease and cardiomyopathy. In addition, inherited arrhythmia syndrome should be considered.