The Egyptian Rheumatologist 44 (2022) 347–350

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The Egyptian Rheumatologist

journal homepage: www.elsevier.com/locate/ejr

Left ventricular non-compaction in a juvenile systemic lupus

erythematosus girl with Hashimoto’s thyroiditis: Case report and review
of the literature
Olfa Jomaa a,⇑, Olfa Berriche b,c,d, Sondess Arfa b,c, Marwa Ben Brahim b,c,d, Mabrouk Abdeaaly c,f,
Mouna Brahem a,c, Haifa Hachfi a,c, Mohamed Younes a,c, Sonia Hammami c,e
a
Rheumatology Department, Taher Sfar University Hospital, Mahdia, Tunisia
b
Endocrinology and Internal Medicine Department, Taher Sfar University Hospital, Mahdia, Tunisia
c
Faculty of Medicine, University of Monastir, Monastir 5000, Tunisia
d
Biochemistry Laboratory, LR12ES05 LR-NAFS Nutrition-Functional Food and Vascular Health, Faculty of Medicine, University of Monastir, Monastir 5000, Tunisia
e
Department of Endocrinology and Internal Medicine, Fattouma Bourguiba University Hospital, Monastir 5000, Tunisia
f
Department of Medical Imaging, Fattouma Bourguiba University Hospital, Monastir 5000, Tunisia

a r t i c l e i n f o a b s t r a c t

Article history: Background: Left ventricular noncompaction (LVNC) is a structural abnormality of the left ventricular
Received 3 July 2022 myocardium of unknown cause. Cardiovascular system involvement is an important manifestation in
Accepted 11 July 2022 juvenile systemic lupus erythematosus (jSLE) and is a leading cause of morbidity and mortality.
Available online 16 July 2022
Aim of the work: To present a case of jSLE with LVNC and Hashimoto’s thyroiditis.
Case presentation: A 15-year-old Tunisian girl with a history of Hashimoto’s thyroiditis presented with
Keywords: paroxysmal chest pain, exertional dyspnea, headache, and polyarthralgia and was diagnosed with jSLE.
Left ventricular non compaction
Clinical examination revealed a febrile patient (39 °C). There was no tachypnea, no evidence of right heart
Juvenile systemic lupus erythematosus
Left ventricular hypertrabeculation
failure, no audible murmurs on cardiac auscultation, and no edema of the lower limbs. Laboratory inves-
tigations revealed leucopenia (3500/mm3), anemia (10 g/dl), elevated erythrocyte sedimentation rate
(ESR)(50 mm\1sth), C-reactive protein (20 mg/l). Infections were excluded with multiple negative blood
cultures and negative anti-streptolysin O antibodies. The antinuclear antibody (ANA) was positive
homogenous at 1/10,000 and both anti-native DNA and anti-SSA were positive. The electrocardiogram
(ECG) showed sinus tachycardia, the transthoracic echocardiography revealed pericarditis associated
with a non-compacted LV and a small pericardial effusion. Thus, a cardiac magnetic resonance imaging
(CMRI) was performed confirming LVNC with a hypertrabeculated sub-endocardium. There was no pro-
teinuria, hypocomplementemia or cerebral vasculitis on cerebral magnetic resonance imaging (MRI). The
patient received high-dose corticosteroids associated with beta-blocker therapy with a favorable out-
come.
Conclusion: A rare case of LVNC which was accidentally discovered in a patient with jSLE and Hashimoto’s
thyroiditis is documented. Follow-up is needed for the development possible complications.
Ó 2022 Egyptian Society of Rheumatic Diseases. Publishing services provided by Elsevier B.V. This is an
open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

1. Introduction
Left ventricular noncompaction (LVNC) is a rare genetic car-
diomyopathy with a structural abnormality of the left ventricular
(LV) myocardium of unknown cause [1], characterized by exces-
sively prominent trabeculations and associated deep recesses that
communicate with the ventricular cavity [1]. Heart failure, sys-
Peer review under responsibility of Egyptian Society of Rheumatic Diseases.
⇑ Corresponding author.
E-mail address: olfajomaa2@gmail.com (O. Jomaa).
temic embolism and arrhythmias are cardinal findings [1]. LVNC
occurs isolated or in association with neuromuscular disorders
(NMDs) [2]. LVNC can rarely be asymptomatic and manifest later
in life following other unrelated conditions that lead to exacerba-
tion in contractile dysfunction [3]. However, its association with
juvenile systemic lupus erythematosus (jSLE) was rarely described
[4].
A higher incidence of arthritis, nephritis, haematologic and neu-
rologic manifestations is seen in jSLE than in adult-onset disease
[5]. In particular, adolescent-onset systemic lupus erythematosus
(SLE) is associated with more aggressive disease [6]. Overall,

https://doi.org/10.1016/j.ejr.2022.07.001
1110-1164/Ó 2022 Egyptian Society of Rheumatic Diseases. Publishing services provided by Elsevier B.V.
This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
O. Jomaa, O. Berriche, S. Arfa et al. The Egyptian Rheumatologist 44 (2022) 347–350

<10 % of jSLE patients have severe cardiovascular system involve-

ment at presentation [7]. It is an important manifestation as it is
now considered a leading cause of morbidity and mortality in jSLE
[7].
Worldwide, cardiovascular system involvement was reported to
range from 11 to 58.3 % [8]. Pericardium, myocardium, endo-
cardium, heart valves, coronary vessels, and cardiac autonomic
functions may be affected in jSLE patients [7].
The aim of this work is to present a case of jSLE with LVNC and
Hashimoto’s thyroiditis.

2. Case presentation:

A 15-year-old girl of African Tunisian ethnicity with a three-

year history of Hashimoto’s thyroiditis treated by L-thyroxine
developed clinical and laboratory manifestations compatible with
jSLE according to the Systemic Lupus International Collaborating
Clinics (SLICC) 2012 criteria [9]. She presented with paroxysmal
constructive chest pain, exertional dyspnea, headache, and pol-
yarthralgia. She also reported photosensitivity. The patient did
not report either an upper airways infection preceding her com-
plaints or any other associated symptom. Written informed con-
sent was obtained from the parent and the patient to publish
this report in accordance with the journal’s patient consent policy.
Clinical examination revealed a fever (39 °C), tachycardia
(110 bpm) and blood pressure of 100/60 mmHg. There was no
tachypnea, no evidence of right heart failure, no audible murmur
on cardiac auscultation, and no lower limb edema. Laboratory
investigations revealed leucopenia (3500/mm3), anemia (10 g/dl),
elevated erythrocyte sedimentation rate (ESR)(50 mm\1st h), C-
reactive protein (20 mg/l) and direct Coombs test was negative.
Infections were excluded with multiple negative blood cultures
and negative anti-streptolysin O antibodies. The antinuclear anti-
body (ANA) was positive homogenous at 1/10,000 and both anti-
native DNA (32 IU/ml) and anti-SSA were positive. Antiphospho-
lipid antibodies (anti cardiolipin, anti-b2 glycoprotein-1) were
negative. The Thyroide Stimulating Hormone (TSH) level was 2.5
mUI/L.
The electrocardiogram (ECG) showed sinus tachycardia. Chest
X-ray was free of cardiomegaly and pleural effusion. The transtho-
racic echocardiography (TTE) revealed a small pericardial effusion
and nodular thickenings of a few millimeters on the mitral valve
associated with a non-compacted LV. The ejection fraction was
63 % (conserved systolic functions) and there was no diastolic dys-
function (telediastolic volume of LV = 54 ml and telesystolic vol-
ume of LV = 20 ml) indicating preserved LV volume. The level of
troponine was normal (0.5 lg/L). Thus, a cardiac magnetic reso-
nance imaging (CMRI) was performed confirming LVNC with
hypertrabeculated sub-endocardium in the distal and apical
regions (Fig. 1), with foci of fibrosis at the level of the cryptic fun-
dus and a global hypokinesia of the LV. There was no proteinuria,
hypocomplementemia or cerebral vasculitis on cerebral magnetic
resonance imaging (MRI).
The patient was treated by high doses oral corticosteroids
(prednisone) (0.5 mg/kg) for a month then tapered; associated
with b-blocker and antipatelet therapy with favourable outcome.
The 2-year follow-up was characterized by a stationary course,
without any relapse on low dose corticosteroids (10 mg/day).
3. Discussion:
The LVNC, also known as hypertrabeculation cardiomyopathy,
or spongy myocardium, is a rare disease listed as an unclassified
cardiomyopathy (CM) by the World Health Organization (WHO)
[10] and the European Society of Cardiology (ESC) [11] and classi-
348
Fig. 1. Cardiac magnetic resonance imaging, 4-cavity section, T2 weighted images,
showing hypertrabeculation of the left ventricular wall, particularly in the inferior
and lateral walls, with thinning of the compacted outer layer.
fied as a genetic CM by the American Heart Association (AHA) [12].
The other proposed mechanism for the development of LVNC was
acquired microcirculatory dysfunction leading to microinfarcts and
hypertrabeculation. In addition, patients with chronically high pre-
load or afterload, have a high prevalence of trabeculations and may
also fulfill the criteria for LVNC [3]. The reported incidence of LVNC
is 0.05 %, its prevalence is often underestimated and appears to be
significantly higher in children than in adults [13]. Cardiac involve-
ment is certainly not uncommon in jSLE [4], with a prevalence of
50 % [14]. All three layers of the heart-pericardium, myocardium,
and endocardium can be affected by jSLE. Pericarditis is the most
common cardiac manifestation of jSLE, occurring in up to 25 % of
patients [15]. Clinical detection of myocarditis in jSLE ranges from
3 to 15 % [16]. In a study of children with primary CM of all types,
LVNC was present in 9.2 % of cases, making it the third most com-
mon type of primary CM after dilated CM and hypertrophic CM
[17]. LVNC is due to the failure of condensation of the myocardial
spongy meshwork of fibers and intertrabecular recesses during
intrauterine life leading to the persistence of ventricular trabecula-
tions [18].
Trabecular compaction occurs between 12 and 18 weeks of ges-
tation, beginning at the base of the heart and progressing toward
the apex [19]. For unknown reasons, in patients with LVNC, this
transition does not occur, resulting in the development of a thick-
ened, noncompacted endomyocardial layer with prominent trabec-
ulations that are continuous with the LV cavity and do not
communicate with the epicardial circulation, deep recesses, and a
thin, compacted epicardial layer [19]. Approximately-two-thirds
of patients with LVNC may have neuromuscular disorders
(NMDs)[2], including myotonic dystrophies, dystrophinopathies,
Charcot-Marie-Tooth disease, Barth syndrome, Friedreich’s ataxia,
and Pompe disease [20]. Thus, patients with such NMDs should
be screened promptly for CM [21]. Men are more frequently
affected by LVNC than women [22].
The LVNC is more prevalent in blacks [23] and that was the case
of our patient who is a black ethnic background girl. This CM can
O. Jomaa, O. Berriche, S. Arfa et al.
occur at any age, ranging from early infancy to late adulthood or
even remain completely asymptomatic, as shown by cases discov-
ered accidentally [24]. Median age at diagnosis is 40–50 years in
adults, and 5–7 years in pediatric patients [22]. The age at diagno-
sis in this patient was 15 years. The clinical presentation is highly
variable, LVNC is usually diagnosed when the condition becomes
symptomatic or when complications occur [25].
Reasons for consultation include often unexplained heart failure,
palpitations or exertional dyspnea, chest pain, or syncope [26]. The
reason leading this patient to consult was chest pain with exertional
dyspnea due to pericarditis objectified in echocardiography, which
noted also accidentally a LVNC. Meanwhile, the classical triad of
heart failure (HF), ventricular arrhythmias, and systemic embolism
constitute typical complications of this disease [26].
No electrical signs are specific for LVNC, but ECG should be per-
formed routinely as they can show rhythm and conduction disor-
ders of varying severity, signs of myocardial hypertrophy, ST
segment changes, bundle branch blocks or ventricular extrasys-
toles [27]. The frequency of ECG abnormalities is high: 88 % in
pediatric patients [28]. A sinus tachycardia was noted in this
patient due probably to fever.
Echocardiography, and CMRI are the gold standard tests for
LVNC diagnosis [29]. TTE, because of its simplicity, is the most
commonly used technique. It shows the presence of criteria lead-
ing to the LVNC suspicion [30] such us: presence of multiple left
ventricular trabeculations, presence of deep intertrabecular
recesses, color doppler flow within the recesses and in communi-
cation with the LV cavity. Classically, when the ratio of non-
compacted to compacted area is >2, LVNC diagnosis is made [31].
In this case, it showed the presence of multiple left ventricular tra-
beculations. In doubtful cases, CMRI provides similar diagnostic
elements, allowing perfect visualization of the trabeculations and
recesses as well as their localization [32]. It confirms echographic
findings, detects subtle patterns, assesses myocardial damage
and fibrosis, obtains data on myocardial perfusion, identifies ven-
tricular thrombi and distinguishes between LVNC and other poten-
tial diagnoses [32]. Real-time 3D echocardiography is another
newly introduced method, which allows a more accurate quantifi-
cation of the number of trabeculations and left ventricular mass
[33]. This patient had TTE and CMRI, and both diagnosed LVNC.
There is no consensus for the diagnostic criteria for LVNC and for
the best diagnostic methods [25]. Histopathological findings seem
to be the gold standard for diagnosing LVNC [34].
There is no specific therapeutic option for LVNC, which is the
same as for HF [35] with three main measures: anti-failure, antiar-
rhythmic and antithrombotic therapy to prevent systemic embo-
lism in patients with impaired LV function [26]. The prognosis
for patients with LVNC is extremely variable, ranging from a pro-
longed asymptomatic course to rapidly progressive HF, which
may lead to heart transplantation or death. More recent publica-
tions, report a mortality rate ranging from 2 to 15 % [1] with the
highest risk of death associated with ventricular arrhythmias and
HF [18]. In 2007, a LVNC was reported in a patient with Behçet’s
disease with multiple thrombus formations [36]. Another patient
with ankylosing spondylitis also had features of LVNC [37]. A CM
strongly resembling LVNC was described in a patient with prolifer-
ative lupus nephritis [38]. Also, there are reports on association of
LVNC with, endocrine abnormalities including hypothyroidism
[39]. The current case describes the features of LVNC in a patient
with jSLE and Hashimoto’s thyroiditis.
In conclusion, this article presents a rare case of LVNC which
was accidentally discovered in a patient with jSLE and Hashimoto’s
thyroiditis. Follow-up is needed for the development possible
complications.
349
The Egyptian Rheumatologist 44 (2022) 347–350
Funding
This research did not receive any specific grant from funding
agencies in the public, commercial, or not-for-profit sectors.
Declaration of Competing Interest
The authors declare that they have no known competing finan-
cial interests or personal relationships that could have appeared
to influence the work reported in this paper.
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