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Case Reports
. 2023 Nov;28(6):e13077.
doi: 10.1111/anec.13077. Epub 2023 Sep 1.

Left ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency

Oliver P Hanington  1 , Catherine Armstrong  2 , Germaine Pierre  3 , Graham Stuart  2   3 , Jules C Hancox  1
Affiliations
Case Reports

Left ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency

Oliver P Hanington et al. Ann Noninvasive Electrocardiol. 2023 Nov.

Abstract

We report the case of a 13-year-old female patient presenting with presyncope and palpitations. Her electrocardiogram revealed an abbreviation of the rate-corrected QT interval with imaging showing significant left ventricular dysfunction. Carnitine levels were measured as part of her diagnostic workup, discovering a rare, reversible cause of short QT syndrome (SQTS) and associated cardiomyopathy-primary carnitine deficiency (PCD) caused by a homozygous mutation in the SLC22A5 gene, leading to an in-frame deletion mutation (NP_003051.1:p.Phe23del) affecting the organic cation transporter 2 (OCTN2) protein. Following the treatment with oral carnitine supplementation, her QT interval returned to within the normal range with significant improvement in left ventricular function.

Keywords: cardiomyopathy; carnitine deficiency; short QT syndrome.

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Conflict of interest statement

The authors have no conflicts of interest to declare that are relevant to the content of this case report.

Figures

FIGURE 1
FIGURE 1
Apical four‐chamber transthoracic echocardiogram. (a) ECHO at time of diagnosis, (b) after 8 weeks of carnitine supplementation, (c) after 2 years of carnitine supplementation. (i) end‐diastole, (ii) end‐systole.
FIGURE 2
FIGURE 2
12‐lead electrocardiogram at time of diagnosis. Sinus bradycardia with a short QT interval (QT 280 ms; QTc 280 ms) and peaked (6–10 mm) T waves with a J‐point to T‐peak interval of 160 ms.
FIGURE 3
FIGURE 3
12‐lead electrocardiogram after 4 years of carnitine supplementation. Significant lengthening in the QTc interval is present (417 ms). Precordial T‐wave inversion present at 4‐month review has resolved.
See this image and copyright information in PMC

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References

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