Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter

Michael J. Bennett, Daniel Hale, Rodney J. Pollitt, Charles A. Stanley, Sadick Variend

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

Endocardial fibroelastosis (EFE) has previously been shown to be associated with tissue carnitine deficiency, although the basis for the carnitine deficiency has not been documented. A patient with the classical features of EFE and marked deficiency of carnitine in heart muscle, skeletal muscle, and liver is presented in this report. Cultured skin fibroblasts from both parents demonstrated levels of carnitine uptake at 50% of the normal rate. This is consistent with heterozygosity for the plasma membrane carnitine transporter defect, indicating likely homozygosity for this recently recognized inborn error in the index patient.

Original languageEnglish (US)
Pages (from-to)243-246
Number of pages4
JournalClinical Cardiology
Volume19
Issue number3
DOIs
StatePublished - Jan 1 1996

Fingerprint

Endocardial Fibroelastosis
Membrane Transport Proteins
Carnitine
Cell Membrane
Myocardium
Skeletal Muscle
Fibroblasts
Parents
Systemic carnitine deficiency
Skin
Liver

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine

Cite this

Bennett, Michael J. ; Hale, Daniel ; Pollitt, Rodney J. ; Stanley, Charles A. ; Variend, Sadick. / Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter. In: Clinical Cardiology. 1996 ; Vol. 19, No. 3. pp. 243-246.
@article{c629bdc87aae4973bd0a1fcf22218e25,
title = "Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter",
abstract = "Endocardial fibroelastosis (EFE) has previously been shown to be associated with tissue carnitine deficiency, although the basis for the carnitine deficiency has not been documented. A patient with the classical features of EFE and marked deficiency of carnitine in heart muscle, skeletal muscle, and liver is presented in this report. Cultured skin fibroblasts from both parents demonstrated levels of carnitine uptake at 50{\%} of the normal rate. This is consistent with heterozygosity for the plasma membrane carnitine transporter defect, indicating likely homozygosity for this recently recognized inborn error in the index patient.",
author = "Bennett, {Michael J.} and Daniel Hale and Pollitt, {Rodney J.} and Stanley, {Charles A.} and Sadick Variend",
year = "1996",
month = "1",
day = "1",
doi = "10.1002/clc.4960190320",
language = "English (US)",
volume = "19",
pages = "243--246",
journal = "Clinical Cardiology",
issn = "0160-9289",
publisher = "John Wiley and Sons Inc.",
number = "3",

}

Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter. / Bennett, Michael J.; Hale, Daniel; Pollitt, Rodney J.; Stanley, Charles A.; Variend, Sadick.

In: Clinical Cardiology, Vol. 19, No. 3, 01.01.1996, p. 243-246.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter

AU - Bennett, Michael J.

AU - Hale, Daniel

AU - Pollitt, Rodney J.

AU - Stanley, Charles A.

AU - Variend, Sadick

PY - 1996/1/1

Y1 - 1996/1/1

N2 - Endocardial fibroelastosis (EFE) has previously been shown to be associated with tissue carnitine deficiency, although the basis for the carnitine deficiency has not been documented. A patient with the classical features of EFE and marked deficiency of carnitine in heart muscle, skeletal muscle, and liver is presented in this report. Cultured skin fibroblasts from both parents demonstrated levels of carnitine uptake at 50% of the normal rate. This is consistent with heterozygosity for the plasma membrane carnitine transporter defect, indicating likely homozygosity for this recently recognized inborn error in the index patient.

AB - Endocardial fibroelastosis (EFE) has previously been shown to be associated with tissue carnitine deficiency, although the basis for the carnitine deficiency has not been documented. A patient with the classical features of EFE and marked deficiency of carnitine in heart muscle, skeletal muscle, and liver is presented in this report. Cultured skin fibroblasts from both parents demonstrated levels of carnitine uptake at 50% of the normal rate. This is consistent with heterozygosity for the plasma membrane carnitine transporter defect, indicating likely homozygosity for this recently recognized inborn error in the index patient.

UR - http://www.scopus.com/inward/record.url?scp=0029812810&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029812810&partnerID=8YFLogxK

U2 - 10.1002/clc.4960190320

DO - 10.1002/clc.4960190320

M3 - Article

C2 - 8674264

AN - SCOPUS:0029812810

VL - 19

SP - 243

EP - 246

JO - Clinical Cardiology

JF - Clinical Cardiology

SN - 0160-9289

IS - 3

ER -