|Year : 2015 | Volume
| Issue : 4 | Page : 108-110
Tetralogy of fallot, down's syndrome, left ventricular noncompaction, and multiples thrombi
Giovanni Di Salvo1, Ziad Bulbul2, Ghassan Siblini1, Bahaa Fadel1, Mansour Al Joufan1, Zohair Al Halees1
1 King Faisal Specialist Hospital and Research Center, Heart Center, Riyadh, Saudi Arabia
2 American University of Beirut, Pediatric, Lebanon
|Date of Web Publication||22-Dec-2015|
Giovanni Di Salvo
Heart Center, King Faisal Specialist Hospital and Research Center, Riyadh
Source of Support: None, Conflict of Interest: None
We report a unique case of left ventricular noncompaction (LVNC), tetralogy of Fallot, and multiples biventricular thrombi in a Down's syndrome. Of interest, speckle tracking analysis detected an abnormal LV myocardial longitudinal deformation, despite the normal ejection fraction and absence of NC at the baseline evaluation.
Keywords: Left ventricular noncompaction, speckle tracking analysis, tetralogy of Fallot, thrombi
|How to cite this article:|
Di Salvo G, Bulbul Z, Siblini G, Fadel B, Al Joufan M, Al Halees Z. Tetralogy of fallot, down's syndrome, left ventricular noncompaction, and multiples thrombi. J Cardiovasc Echography 2015;25:108-10
|How to cite this URL:|
Di Salvo G, Bulbul Z, Siblini G, Fadel B, Al Joufan M, Al Halees Z. Tetralogy of fallot, down's syndrome, left ventricular noncompaction, and multiples thrombi. J Cardiovasc Echography [serial online] 2015 [cited 2022 Jan 19];25:108-10. Available from: https://www.jcecho.org/text.asp?2015/25/4/108/172488
| Introduction|| |
Left ventricular non compaction is a rare cardiomyopathy, it has been recently reported in association with other congenital heart diseases. We present an unusual association of left ventricular noncompaction with congenital heart disease and genetic syndrome.
| Case report|| |
We report a case of a 6-year-old Down's syndrome girl diagnosed at birth as a case of tetralogy of Fallot (TOF) who underwent complete repair at the age of 6 months by transannular patch followed at our outpatient clinic.
The evaluations performed from 2009 to 2013 demonstrated a progressive appearance of left ventricular noncompaction (LVNC) areas in the lateral, septal, and apical walls and a progressive reduction of biventricular systolic function [Figure 1]. The ratio, measured in 2013, between the noncompacted and compacted endomyocardial layers was >2.0, according with the LVNC echocardiographic diagnostic criteria. 
|Figure 1: 2009 Panel A: Apical four-chamber view at the baseline evaluation showing no hypertrabeculated left ventricle (LV). 2009 Panel B: Subcostal view and parasternal long axis view showing the typical tetralogy of Fallot features, anterocephalic deviation of the infundibular septum, right ventricular outfl ow tract obstruction, large ventricular septum defect, overriding aorta. 2013 Panel A: Apical four chamber view showing the presence of hypertrabeculated left ventricular apex (arrow); 2013 Panel B: Parasternal short axis view showing hypertrabeculated LV (arrow). 2014 Panel A: Apical four chamber view showing a clot in the dilated right ventricle (star) and a large clot in the hypertrabeculated LV (star); 2014 Panel B: Parasternal short axis showing multiple clots (stars) in the right ventricle and the hypertrabeculated LV (star)|
Click here to view
Of interest, speckle tracking analysis of the echo study, done in 2009, detected an abnormal LV myocardial, longitudinal strain (average = 8% in the apical four chamber view) [Figure 2], despite a normal LV ejection fraction (60%) and the absence of LVNC at the baseline evaluation. During the follow-up, there was a drop in LV ejection fraction (50%) with a persistent stable reduction in LV myocardial longitudinal strain.
|Figure 2: Speckle tracking analysis of the left ventricle (LV) from the apical four chamber view revealing a significant abnormally reduced LV deformation (A)|
Click here to view
At the last visit in 2014, she was asymptomatic, but a two-dimensional Doppler color-flow echocardiography showed severe dilatation of both ventricles with a diffuse biventricular hypokinesia, (LV ejection fraction <30%, tricuspid annular plane systolic excursion 8 mm), and free pulmonary regurgitation. Multiple apical biventricular thrombi were detected [Figure 1].
A regimen of heparin (imbricated with warfarin), carvedilol, spironolactone, captopril, and furosemide was started.
| Discussion|| |
LVNC is a rare cardiomyopathy due to the arrest of myocardial compaction during embryogenesis that may manifest from infancy to young adulthood.  Standard echocardiography has a well-established role in the diagnosis demonstrating the presence of LV trabeculations apically to the papillary muscles. , Previous studies have shown that clots can be formed in LVNC. 
LVNC, originally described as an isolated disease, it has been recently reported in association with other congenital heart diseases (about 12% of LVNC cases).  Particularly, the association with TOF ranges from 4% to 8% in the different series. 
LVNC has been also associated with mutations of several genes or with neuromuscular disorders.  No cases have been reported of LVNC and Down's syndrome.
To the best of our knowledge, this is the first described case of LVNC, TOF, multiples biventricular thrombi, and Down's syndrome.
This case also confirmed the ability of advanced echo modalities such as strain analysis to detect early functional abnormalities in the presence of normal LV ejection fraction and before the appearance of a clear LVNC. 
Previous studies already demonstrated that LVNC with preserved LVEF has subclinical myocardial dysfunction with the impairment of myocardial deformation parameters. 
Myocardial fibrosis could probably explain the abnormal myocardial deformation properties found in our patient in the presence of a normal LV ejection fraction. Nucifora et al. demonstrated in about half of the patients with isolated LVNC, fibrosis involving both compacted and NC myocardium with a similar prevalence. 
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Stöllberger C, Finsterer J. Left ventricular hypertrabeculation/noncompaction. J Am Soc Echocardiogr 2004;17:91-100.
Vijayvergiya R, Jha A, Panda SN, Grover A. Biventricular non-compaction - The rare cause of stroke in a young boy. Int J Cardiol 2008;129:e84-5.
Stähli BE, Gebhard C, Biaggi P, Klaassen S, Valsangiacomo Buechel E, Attenhofer Jost CH, et al.
Left ventricular non-compaction: Prevalence in congenital heart disease. Int J Cardiol 2013;167:2477-81.
Stöllberger C, Finsterer J, Blazek G. Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol 2002;90:899-902.
Sutherland GR, Di Salvo G, Claus P, D′hooge J, Bijnens B. Strain and strain rate imaging: A new clinical approach to quantifying regional myocardial function. J Am Soc Echocardiogr 2004;17:788-802.
Tufekcioglu O, Aras D, Yildiz A, Topaloglu S, Maden O. Myocardial contraction properties along the long and short axes of the left ventricle in isolated left ventricular non-compaction: Pulsed tissue Doppler echocardiography. Eur J Echocardiogr 2008;9:344-50.
Nucifora G, Aquaro GD, Pingitore A, Masci PG, Lombardi M. Myocardial fibrosis in isolated left ventricular non-compaction and its relation to disease severity. Eur J Heart Fail 2011;13:170-6.
[Figure 1], [Figure 2]