|Year : 2014 | Volume
| Issue : 2 | Page : 60-63
Revisiting non-compaction cardiomyopathy through a case with cyanosis and complete heart block
Achyut Sarkar, Imran Ahmed, Arindam Pande, GS Naveen Chandra
Department of Cardiology, Pediatric Cardiology Unit, Institute of Post Graduate Medical Education and Research, Seth Sukhlal Karnani Memorial Hospital, Kolkata, West Bengal, India
|Date of Web Publication||1-Jul-2014|
Ekbalpore Lane, Kolkata - 700 023, West Bengal
Source of Support: None, Conflict of Interest: None
Left ventricular non-compaction or "spongy myocardium", is a rare congenital cardiomyopathy that should be considered as a possible diagnosis because of its potential complications. Echocardiography is the diagnostic tool of choice, and cardiomagnetic resonance (CMR) can confirm or rule out this disease. Herein, we report the case of an 8-month-old female child who presented with congestive cardiac failure (CCF) and symptomatic complete heart block (CHB). An echocardiogram established the diagnosis as non-compaction cardiomyopathy (NCCM). An associated double outlet right ventricle with ventricular septal defect and valvular pulmonary stenosis was found. Cardiac magnetic resonance study confirmed the findings. This singular case report of NCCM highlights the importance of clinical awareness of this rare abnormality, its varied presentation and associated cardiac anomalies. The article revisits NCCM and focuses on the practical issues for a proper echodiagnosis.
Keywords: Complete heart block, congestive cardiac failure, double outlet right ventricle, non-compaction cardiomyopathy
|How to cite this article:|
Sarkar A, Ahmed I, Pande A, Naveen Chandra G S. Revisiting non-compaction cardiomyopathy through a case with cyanosis and complete heart block. J Cardiovasc Echography 2014;24:60-3
|How to cite this URL:|
Sarkar A, Ahmed I, Pande A, Naveen Chandra G S. Revisiting non-compaction cardiomyopathy through a case with cyanosis and complete heart block. J Cardiovasc Echography [serial online] 2014 [cited 2020 Apr 10];24:60-3. Available from: http://www.jcecho.org/text.asp?2014/24/2/60/135620
| Introduction|| |
Left ventricular non-compaction is currently considered as a primary genetic cardiomyopathy that results from arrest of myocardial maturation during embryogenesis.  Non-compaction cardiomyopathy (NCCM), although rare, is being increasingly diagnosed lately, and may occur with congenital heart and neuromuscular diseases, and in isolation. The clinical spectrum of presentation and complications are variable. The purpose of this article is to provide an overview of the current knowledge of the epidemiology, pathophysiology, clinical manifestations, echocardiographic evaluation, treatment, and prognosis of this type of cardiomyopathy through our clinical case.
| Case report|| |
An 8-month old female child, born from a non-consanguineous marriage, was admitted with the history of dyspnea and cyanosis noted since 1 month of age. There was no history of cyanotic spells. The patient had not yet begun crawling and motor milestones appear delayed. No family history of cardiac diseases was present.
The child weighed 6 kg and was dyspneic. Cardiovascular examination revealed significant cyanotic burden and clubbing [Figure 1]. An ejection systolic murmur of grade 3/6 was present in pulmonary area. ECG showed complete heart block and a frontal QRS axis of 120° and normal progression of QRS complex across chest leads [Figure 2]. Echocardiography revealed a moderate concentric left ventricular (LV) hypertrophy, non-compacted zone in the apical, mid and posterior basal LV regions, [Figure 3] a large malaligned VSD with aortico-mitral discontinuity suggestive of double-aortic right ventricle (DORV) [Figure 4], and severe valvular and infundibular pulmonary stenosis (peak gradient-70 mmHg) [Figure 5]. The ratio of the non-compacted to compacted zone was 2.6 [Figure 6]. At least four trabeculations were present and the non-compacted zone was hypokinetic [[Figure 7] a, b]. There was mild LV dysfunction and the ejection fraction was 42%. Echocardiographic findings were confirmed with a cardiac MRI which showed a non-compacted to compacted zone ratio of 2.5 [Figure 8].
|Figure 3: Echocardiogram showing concentric LV hypertrophy and increased LV apical and mid-zone wall thickening|
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|Figure 4: Echocardiogram showing a large malaligned VSD with aortico-mitral discontinuity suggestive of double-outlet right ventricle|
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|Figure 5: Echocardiogram (parasternal short axis) showing severe valvular and infundibular pulmonary stenosis|
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|Figure 7: Echocardiogram showing marked thickening and heavy trabeculation of the apical half of the left ventricle (a) and color Doppler displaying fl ow within the deep intertrabecular recesses (b)|
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|Figure 8: Cardiac Magnetic Resonance (CMR) image showing a left ventricular myocardial noncompacted to compacted zone ratio of 2.5. (NCM – non-compacted myocardium, CM -compacted myocardium)|
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The patient was put on temporary pacemaker for the complete heart block and referred to the cardio-thoracic vascular surgery (CTVS) department for an epicardial permanent pacing as a palliative measure before a definitive cardiac transplantation procedure could be arranged. The patient was started on oral ramipril (1.25 mg) once daily for the LV dysfunction.
| Discussion|| |
First described in 1984 by Engberding and Bender, left ventricular non-compaction or "spongy myocardium", is a rare but increasingly identified congenital cardiomyopathy that can be diagnosed at any age.  In a study of children with primary cardiomyopathy of all types, NCCM was present in 9.2%. The prevalence of this disease in adults remains unclear, but NCCM represented 0.014% of the echocardiograms in a study done over 15 years.  Apart from isolated cases, NCCM has been reported in association with other cardiac (especially VSD, ASD and PDA) and neuromuscular (mainly metabolic myopathies) disorders. , Our present case of NCCM is associated with DORV, VSD and PS, which has been hitherto unreported previously in this combination, to the best of our knowledge.
In the 5th to the 8th week of embryonal development of the human myocardium, the earlier 'spongy', trabecular ventricular myocardium gradually becomes compacted. This process of compaction proceeds from the epicardium to the endocardium, and from the base of the heart to its apex. An abnormal arrest of this complex embryonal process of endomyocardial morphogenesis is assumed to be the pathogenetic mechanism that underlies NCCM. 
The clinical manifestations of NCCM vary widely. Patients may be asymptomatic or show symptoms of arrhythmias, thromboembolism or eventually heart failure in most cases. The cause of the myocardial failure is related to microcirculatory dysfunction, mainly due to subendocardial hypoperfusion.  The average time for the onset of symptoms after the diagnosis is 3.5 years.  The present case was, however, diagnosed early at 8 months of age due to appearance of complications like CHB, LV dysfunction and increased cyanotic burden.
Arrhythmias are common in patients with ventricular non-compaction. Atrial fibrillation has been reported in over 25%, and ventricular tachyarrhythmias in 47% of adults with isolated NCCM. Sudden cardiac death accounted for half of the deaths in the larger series of patients with isolated NCCM. Paroxysmal supraventricular tachycardia (WPW syndrome) have also been reported.  Although a presentation with complete heart block (as in our case) is rare in NCCM, but when occurring with other cardiac anomalies, CHB can at best be considered as an association with NCCM rather than causal.
Echocardiography is the diagnostic test of choice for NCCM. The diagnostic criteria of Jenni and Stöllberger are commonly followed.
- There are at least four prominent trabecula and deep intertrabecular recesses.
- Blood flow in trabecular recesses is demonstrable with color Doppler/contrast echo.
- The non-compact subendocardial layer is at least twice as thick as the compact subepicardial layer in systole. 
Non-compaction is seen mainly at the cardiac apex and in the inferior, central, and lateral portions of the left ventricular wall. For a proper diagnosis, image
resolution, contrast, and positioning of the focus in the apical region are crucial. Differential diagnosis with thrombi, false tendons, fibroma, apical hypertrophic cardiomyopathy, obliterative processes, intramyocardial hematoma, cardiac metastases, and intramyocardial abscesses must be considered. 
MRI provides good correlation with echo, and is useful in cases with poor echocardiographic image quality. In addition, the demonstration of differences in MRI signal intensity in non-compacted myocardium may help identify substrate for potentially lethal arrhythmias. 
Treatment for NCCM is difficult. Standard medical therapy for systolic and diastolic ventricular dysfunction is warranted. Biventricular pacemakers may have a role in patients with reduced left ventricular function, and prolonged intraventricular conduction. Several authors have recommended long-term prophylactic anticoagulation for all patients with NCCM.  Treatment dilemmas in NCCM with associated anomalies becomes difficult. In our case, the cardiac anomalies and LV non-compaction could only be treated with a cardiac transplant. The CHB in the interim was managed by temporary RV pacing and was referred to CTVS for an epicardial permanent pacing.
Although the prognosis for patients with NCCM varies, nearly 60% of patients described in one large series had either died or undergone cardiac transplantation within 6 years of diagnosis. High-risk characteristics include, higher left ventricular end-diastolic diameter on presentation, New York Heart Association class III-IV, permanent or persistent atrial fibrillation, and bundle branch block.  Patients with these high-risk features are candidates for early, aggressive interventions, including consideration of cardioverter-defibrillator implantation, and evaluation for transplantation. 
| Conclusions|| |
The present case aims to highlight the varied presentation and association of NCCM and outline the diagnostic difficulties in identifying this disorder. NCCM is a rare but increasingly identified cardiomyopathy. Age of presentation is variable, and can occur relatively earlier, as in our case which was diagnosed at 8 months of age. Rarely, it may present as complete heart block, as in our case. Management depends on complications, but once they occur, prognosis is dismal.
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