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Ventricular Fibrillation Without Overt Cardiomyopathy as First Presentation of Organic Cation Transporter 2‐Deficiency in Adolescence
Author(s) -
RIJLAARSDAM RENSKE S.,
SPRONSEN FRANCJAN J. VAN,
BINKBOELKENS MARGREET TH.E.,
REIJNGOUD DIRKJAN,
WANDERS RONALD J.A.,
NIEZENKONING KLARY E.,
VAN DER SLUIJS FJODOR H.,
DORLAND BERT,
BEAUFORTKROL GERTIE C.M.
Publication year - 2004
Publication title -
pacing and clinical electrophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.686
H-Index - 101
eISSN - 1540-8159
pISSN - 0147-8389
DOI - 10.1111/j.1540-8159.2004.00507.x
Subject(s) - medicine , cardiomyopathy , carnitine , presentation (obstetrics) , weakness , cardiology , disease , ventricular fibrillation , fibrillation , pediatrics , atrial fibrillation , heart failure , surgery
This case report describes ventricular fibrillation without overt cardiomyopathy as the presenting symptom of primary carnitine deficiency due to organic cation transporter 2 (OCTN2)‐deficiency in a 15‐year‐old girl. Normally this disease presents early in life with hypoketotic hypoglycemia, muscle weakness, and/or cardiomyopathy. The patient fully recovered after carnitine suppletion. Recognition of this disease is important because its treatment is easy and effective. (PACE 2004; 27:675–676)