{"title":"原发性肉碱缺乏是年轻患者心力衰竭的可治疗原因。","authors":"Meral Kayıkçıoğlu, Benay Özbay, Burcu Yağmur, Ebru Canda, Selen Bayraktaroğlu, Evrim Şimşek, Sema Kalkan Uçar","doi":"10.5543/tkda.2022.21319","DOIUrl":null,"url":null,"abstract":"<p><p>Non-ischemic dilated cardiomyopathy is the most common subgroup of heart failure in young adults. Several metabolic defects could be the underlying etiology in these young heart failure patients. However, most cases are considered idiopathic. Primary carnitine deficiency is an overlooked inherited metabolic disease causing cardiomyopathy in these patients. Oral carnitine replacement therapy could prevent primary carnitine deficiency patients from progressing to advanced heart failure and life-threatening arrhythmias. In this case report, we present an index primary carnitine deficiency case and his brother's diagnosis and successful treatment period to draw attention to primary carnitine deficiency as a treatable cause of heart failure in young adults.</p>","PeriodicalId":46993,"journal":{"name":"Turk Kardiyoloji Dernegi Arsivi-Archives of the Turkish Society of Cardiology","volume":null,"pages":null},"PeriodicalIF":0.9000,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"3","resultStr":"{\"title\":\"Primary Carnitine Deficiency as a Treatable Cause of Heart Failure in Young Patients.\",\"authors\":\"Meral Kayıkçıoğlu, Benay Özbay, Burcu Yağmur, Ebru Canda, Selen Bayraktaroğlu, Evrim Şimşek, Sema Kalkan Uçar\",\"doi\":\"10.5543/tkda.2022.21319\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Non-ischemic dilated cardiomyopathy is the most common subgroup of heart failure in young adults. Several metabolic defects could be the underlying etiology in these young heart failure patients. However, most cases are considered idiopathic. Primary carnitine deficiency is an overlooked inherited metabolic disease causing cardiomyopathy in these patients. Oral carnitine replacement therapy could prevent primary carnitine deficiency patients from progressing to advanced heart failure and life-threatening arrhythmias. In this case report, we present an index primary carnitine deficiency case and his brother's diagnosis and successful treatment period to draw attention to primary carnitine deficiency as a treatable cause of heart failure in young adults.</p>\",\"PeriodicalId\":46993,\"journal\":{\"name\":\"Turk Kardiyoloji Dernegi Arsivi-Archives of the Turkish Society of Cardiology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2022-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"3\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Turk Kardiyoloji Dernegi Arsivi-Archives of the Turkish Society of Cardiology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5543/tkda.2022.21319\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Turk Kardiyoloji Dernegi Arsivi-Archives of the Turkish Society of Cardiology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5543/tkda.2022.21319","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
Primary Carnitine Deficiency as a Treatable Cause of Heart Failure in Young Patients.
Non-ischemic dilated cardiomyopathy is the most common subgroup of heart failure in young adults. Several metabolic defects could be the underlying etiology in these young heart failure patients. However, most cases are considered idiopathic. Primary carnitine deficiency is an overlooked inherited metabolic disease causing cardiomyopathy in these patients. Oral carnitine replacement therapy could prevent primary carnitine deficiency patients from progressing to advanced heart failure and life-threatening arrhythmias. In this case report, we present an index primary carnitine deficiency case and his brother's diagnosis and successful treatment period to draw attention to primary carnitine deficiency as a treatable cause of heart failure in young adults.