Primary Carnitine Deficiency as a Treatable Cause of Heart Failure in Young Patients
Makaleler > Tam Makale · 2022
Yazarlar: Latife Meral KAYIKÇIOĞLU, Benay Ozbay, Burcu YAĞMUR, Ebru CANDA, Selen Bayraktaroglu, Evrim ŞİMŞEK, Sema KALKAN UÇAR
Turk Kardiyoloji Dernegi Arsivi-Archives of the Turkish Society of Cardiology, Uluslararası, Scopus, 2022, cilt 50, ss 535-539
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.