Case presentation
According to the SLICC 2012 criteria (13), a 15-year-old girl of African
ethnicity was diagnosed with jSLE with a past history of Hashimoto’s
thyroiditis treated by L-thyroxine presented with paroxysmal
constructive chest pain, Exertional dyspnea, headache, and
polyarthralgia. She also reported photosensitivity. On systemic review,
the patient did not report either an upper airways infection preceding
her complaints or any other associated general or specific symptom.
Clinical examination revealed a fever of 39° C with blood pressure of
100/60 mmHg. There was no polypnea, no evidence of right heart failure,
no audible murmur on cardiac auscultation, and no edema of the lower
limbs. The biological analysis revealed a Leucopenia (3500/mm3), anemia
(10g/dl), elevated erythrocyte sedimentation rate
(ESR\1st h = 50 mm\h at the first hour,
C-reactive protein (20 mg/l) and a direct Coombs test that was negative.
Infections were excluded with multiple negative blood cultures, as well
as for anti-streptolysin O antibodies. The immunological test revealed
homogeneous anti-nuclear antibodies at 1/10,000 with the positivity of
anti-native DNA antibodies (32 IU/ml) and anti-SSA antibodies.
Antiphospholipid antibodies: anti cardiolipin anti beta 2 glycoprotein,
were negative. The electrocardiogram showed sinus tachycardia, and the
chest X-ray was free of cardiomegaly and pleural effusion. However, the
transthoracic echocardiography has objectified a pericardidtis
associated with a non-compacted LV, nodular thickenings of a few
millimeters on the mitral valve with a small pericardial effusion. Thus,
a cardiac magnetic resonance imaging (CMRI) was performed confirming the
non-compaction of the LV with an hypertrabeculated sub-endocardium in
the distal and apical regions (Figure 1, 2, and 3), with foci of
fibrosis at the level of the cryptic fundus and a global hypokinesia of
the LV. The systemic review did not reveal any proteinuria,
hypocomplementemia or cerebral vasculitis on cerebral magnetic resonance
imaging (MRI). Our patient was treated by high doses of corticosteroids
(0,5mg/kg/j) associated with beta-blocker therapy with favourable
outcome. The 2-year follow-up was characterized by a stabilized disease,
without relapses on low dose corticosteroids.
DiscussionLVNC, also known as hypertrabeculation cardiomyopathy, or spongy
myocardium, is currently a rare disease listed as an unclassified
cardiomyopathy (CM) by the World Health Organization (WHO) (14) and the
European Society of Cardiology (ESC) (15), and classified as a genetic
CM by the American Heart Association (AHA) (16). The other proposed
mechanism for the development of LVNC was acquired microcirculatory
dysfunction leading to microinfarcts and hypertrabeculation. In
addition, patients with chronically high preload or afterload, have a
high prevalence of trabeculations and may also fulfill the criteria for
LVNC (5,17).The reported incidence of LVNC is 0.05%, its prevalence is
often underestimated and appears to be significantly higher in children
than in adults (18). Cardiac involvement is certainly not uncommon in
jSLE (19), with a prevalence of 50% (20). 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 (21). Clinical detection of myocarditis, which
is the most characteristic feature of myocardial involvement in jSLE,
ranges from 3% to 15% (22). In a study of children with primary CM of
all types, LVNC was present in 9.2% of cases, making it the third most
common type of primary CM after dilated CM and hypertrophic CM (23).
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 trabeculations (24).
Trabecular compaction occurs between 12 and 18 weeks of gestation,
beginning at the base of the heart and progressing toward the apex (25).
For unknown reasons, in patients with LVNC, this transition does not
occur, resulting in the development of a thickened, noncompacted
endomyocardial layer with prominent trabeculations that are continuous
with the LV cavity and do not communicate with the epicardial
circulation, deep recesses, and a thin, compacted epicardial layer (25).
Approximately two-thirds of patients with LVNC may have NMDs (4),
including myotonic dystrophies, dystrophinopathies, Charcot-Marie-Tooth
disease, Barth syndrome, Friedreich’s ataxia, and Pompe disease (26).
Thus, Patients with such NMDs should be screened promptly for CM (27).
Men are more frequently affected by LVNC than women (28).
LVNC is more prevalent in blacks (29) and that was the case of our
patient who is a black ethnic background girl. This CM can occur at any
age, ranging from early infancy to late adulthood or even remain
completely asymptomatic, as shown by cases discovered accidentally (30).
Median age at diagnosis is 40- 50 years in adults, and 5-7 years in
pediatric patients (28, 31). The age at diagnosis in our patient was 15
years. The clinical presentation is highly variable, LVHT is usually
diagnosed when the condition becomes symptomatic or when complications
occur (32).
Reasons for consultation include often unexplained heart failure,
palpitations or exertional dyspnea, chest pain, or syncope (33). Such
was the case with our patient, whose reason for consultation was chest
pain with exertional dyspnea. Meanwhile, the classical triad of heart
failure (HF), ventricular arrhythmias, and systemic embolism constitute
typical complications of this disease (33). No electrical signs are
specific for LVNC, but electrocardiograms (ECG) should be performed
routinely in LVNC cases, as they can show rhythm and conduction
disorders of varying severity, signs of myocardial hypertrophy, ST
segment changes, bundle branch blocks or ventricular extrasystoles (34).
The frequency of ECG abnormalities is high: 88% in pediatric patients
(35). A sinus tachycardia was noted in our patient.
Echocardiography, and CMRI are the gold standard tests for LVNC
diagnosis (36). Transthoracic echocardiography (TTE), because of its
simplicity, is the most commonly used technique. It shows the presence
of criteria leading to the LVNC suspicion (37) such us: presence of
multiple left ventricular trabeculations, presence of deep
intertrabecular recesses, color doppler flow within the recesses and in
communication with the LV cavity. Classically, when the ratio of
non-compacted area to compacted area is greater than 2, LVNC diagnosis
is made (38). In doubtful cases, CMRI provides similar diagnostic
elements, allowing perfect visualization of the trabeculations and
recesses as well as their localization ( 39). It confirm echographic
findings, detect subtle patterns, assess myocardial damage level, obtain
data on myocardial perfusion, assess myocardial fibrosis, identify
ventricular thrombi, and distinguish between LVNC and other potential
diagnoses (39). Real-time 3D
echocardiography is another newly introduced method, which allows a more
accurate quantification of the number of trabeculations and left
ventricular mass (40). Our patient had both TTE and CMRI, and was
diagnosed with LVNC by both methods. At present, no consensus for the
diagnostic criteria for LVNC and the best diagnostic methods (32).
Pathoanatomical findings currently seem to be the gold standard for
diagnosing LVHT (41).
Currently, there is no specific option for the LVNC treatment, which is
the same as for HF ( 42). There are three main goals of treatment:
treatment of HF, antiarrhythmic therapy, and antithrombotic therapy to
prevent systemic embolism in patients with impaired LV function ( 33).
The prognosis for patients with LVNC is extremely variable, ranging from
a prolonged asymptomatic course to rapidly progressive HF, which may
lead to heart transplantation or death. More recent publications, report
a mortality rate ranging from 2% to 15% (3) with the highest risk of
death associated with ventricular arrhythmias and HF (24). In 2007, a
LVNC was reported in a patient with Behçet’s disease with multiple
thrombus formations (43). Another patient with ankylosing spondylitis
also had features of LVNC (44). Recently, a CM strongly resembling LVNC
was described in a patient with proliferative lupus nephritis (45).
Also, When reviewing literature, there are reports on association of
LVNC with, endocrine abnormalities including hypothyroidism (46). The current case describes the features of LVNC in a patient
with jSLE and Hashimoto’s thyroiditis. LVNC might represent more a
morphologic expression of different underlying morbidities than a
distinct CM, according to some group of authors (47). If these
underlying disorders include jSLE and other connective tissue disorders,
it is an open question.