Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence

RS Rijlaarsdam; FJ van Spronsen; MTE Bink-Boelkens; DJ Reijngoud; KE Niezen-Koning; FH Van der Sluijs; B Dorland; GCM Beaufort-Krol

Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence

RS Rijlaarsdam
, FJ van Spronsen^*
, MTE Bink-Boelkens
, DJ Reijngoud
, KE Niezen-Koning
, FH Van der Sluijs
, B Dorland
, GCM Beaufort-Krol

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

28 Citations (Scopus)

Abstract

This case report describes ventricular fibrillation without overt cardiomyopathy us 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.

Original language	English
Pages (from-to)	675-676
Number of pages	2
Journal	Pace-Pacing and Clinical Electrophysiology
Volume	27
Issue number	5
Publication status	Published - May-2004

Keywords

ventricular fibrillation
OCTN2-deficiency
carnitine
SYSTEMIC CARNITINE DEFICIENCY
OCTN2
CHILDREN
DEFECTS
GENE

Handle.net

Persistent link

Cite this

@article{24f5e19e967f48d990b358e2685bbaef,

title = "Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence",

abstract = "This case report describes ventricular fibrillation without overt cardiomyopathy us 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.",

keywords = "ventricular fibrillation, OCTN2-deficiency, carnitine, SYSTEMIC CARNITINE DEFICIENCY, OCTN2, CHILDREN, DEFECTS, GENE",

author = "RS Rijlaarsdam and \{van Spronsen\}, FJ and MTE Bink-Boelkens and DJ Reijngoud and KE Niezen-Koning and \{Van der Sluijs\}, FH and B Dorland and GCM Beaufort-Krol",

year = "2004",

month = may,

language = "English",

volume = "27",

pages = "675--676",

journal = "Pace-Pacing and Clinical Electrophysiology",

issn = "0147-8389",

publisher = "Wiley",

number = "5",

}

TY - JOUR

T1 - Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence

AU - Rijlaarsdam, RS

AU - van Spronsen, FJ

AU - Bink-Boelkens, MTE

AU - Reijngoud, DJ

AU - Niezen-Koning, KE

AU - Van der Sluijs, FH

AU - Dorland, B

AU - Beaufort-Krol, GCM

PY - 2004/5

Y1 - 2004/5

N2 - This case report describes ventricular fibrillation without overt cardiomyopathy us 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.

AB - This case report describes ventricular fibrillation without overt cardiomyopathy us 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.

KW - ventricular fibrillation

KW - OCTN2-deficiency

KW - carnitine

KW - SYSTEMIC CARNITINE DEFICIENCY

KW - OCTN2

KW - CHILDREN

KW - DEFECTS

KW - GENE

M3 - Article

SN - 0147-8389

VL - 27

SP - 675

EP - 676

JO - Pace-Pacing and Clinical Electrophysiology

JF - Pace-Pacing and Clinical Electrophysiology

IS - 5

ER -

Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence

Abstract

Keywords

Handle.net

Fingerprint

Cite this