Primary Carnitine Deficiency as a Treatable Cause of Heart Failure in Young Patients
Küçük Resim Yok
Tarih
2022
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Aves
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Cardiomyopathy, carnitine deficiency, heart failure, rare disease
Kaynak
Turk Kardiyoloji Dernegi Arsivi-Archives of The Turkish Society of Cardiology
WoS Q Değeri
N/A
Scopus Q Değeri
Q4
Cilt
50
Sayı
7
