European Journal of Echocardiography 2008 9(2):306-308; doi:10.1016/j.euje.2006.11.007
Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2006. For permissions please email: journals.permissions@oxfordjournals.org
A rare case of biventricular non-compaction associated with ventricular septal defect and descendent aortic stenosis in a young man
Alexandrina Tatu-Chitoiu* and
Serban Bradisteanu
Department of Cardiovascular Surgery, Emergency Hospital, Calea Floreasca No. 8 Bucharest, Romania
Received 23 October 2006; accepted after revision 12 November 2006; online publish-ahead-of-print 28 December 2006.
* Corresponding author. Tel: +40 723217952; fax: +40 212121119. E-mail address: sandinatatu{at}yahoo.com
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Abstract
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Noncompaction of the ventricular myocardium is a cardiomyopathy
caused by the arrest of normal embryogenesis of the ventricles.
It is classified in isolated noncompaction of the ventricles
(most frequently of the left one) and in ventricular noncompaction
associated with other congenital anomalies of the endocardium
and myocardium, such as obstruction of the right or left ventricular
outflow tracts, complex cyanotic congenital heart disease, and
coronary artery anomalies. There are controversies regarding
the right ventricle noncompaction due to the normally trabeculated
shape of its walls.We present a case of severe heart failure
with a complex anomaly: biventricular noncompaction, ventricular
septal defect and aortic thoracic stenosis.
Keywords: Noncompaction; Aortic coarctation; Ventricular septal defect
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Case report
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A 27-year-old man was admitted in our department in order to
assess him for heart transplant. From his history, we noticed
a surgical intervention at 2 years old for aortic coarctation
(aortic enlargement with patch). After 10 years, slowly began
exertional dyspnea and fatigue. At presentation, he complained
of severe dyspnea, orthopnea, palpitations and abdominal pain.
The physical examination showed a cachectic young man, with signs of severe heart failure. The auscultation of the heart revealed an irregular rhythm, a rough third degree systolic and diastolic rumble spread all over the heart area and a second degree systolic rumble at the apex. Heart rate was 100 beats/min; blood pressure was 90/60 mmHg and respiratory rate was 28/min. The heart X-ray showed the enlargement of the heart with right pleural effusion. On ECG we saw a sinus rhythm with ventricular extra beats, and left ventricular hypertrophy.
Transthoracic echocardiography (TTE) showed the enlargement of all the heart cavities (right atrium = 61 mm; right ventricle = 49.6 mm; and left atrium = 40 mm) (Figures 1 and 2). The dimensions of the left ventricle were 87.8 mm in diastole and 72.5 mm in systole, with an ejection fraction of 23% and shortening fraction of 7.4%. The structure of the walls revealed a compact epicardial layer and an endocardial layer consisting of a trabecular meshwork and deep intertrabecular spaces with the ratio of end-systolic non-compact/compact layer >2 (Figure 3). From parasternal short axis view, we can see also the Doppler colour flow between the ventricular cavities and the intertrabecular spaces. The interventricular septum has normal dimensions and presents a small defect in subaortic position with left-to-right shunt (maximum gradient 47.6 mmHg) (Figure 4). The mitral and tricuspid valves have normal morphology, with moderate regurgitation of both of them. The pressure in the pulmonary artery (calculated with the velocity of the tricuspid regurgitant jet) was 70 mmHg. From parasternal long axis we noticed a dilated aorta (30.5 mm at the level of the annulus and 74.3 mm the ascending segment) (Figure 1). In parasternal short axis, we can see that it is a bicuspid aorta (Figure 5), with severe regurgitant jet (Figure 6). The longitudinal five chambers confirmed severe aortic regurgitation (pressure half time = 205 ms). From the suprasternal window, the descendent aorta is enlarged with a patch (Figure 7) and right below the subclavian artery became stenotic with a turbulent Doppler flow (maximum gradient = 30 mmHg) (Figure 8).
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Figure 3 Parasternal short axis view showing left ventricular walls structure with a compact epicardial layer and an endocardial layer consisting of a prominent trabecular meshwork and deep intertrabecular spaces.
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His clinical status, the renal insufficiency, and the value
of his pulmonary artery resistances (18 UW) were absolute contraindications
for accepting him in our heart transplant list. Despite the
treatment he was put on, his status became worse in a week,
and soon after he died in another cardiology service.
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Discussions
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Ventricular noncompaction is a rare, unclassified cardiomyopathy.
The main cause of this disease is due to an intrauterine arrest
of normal myocardial development with lack of compaction of
the loose myocardial meshwork.
2 It is classified as (1) isolated
ventricular noncompaction (INVM) characterized by persistent
embryonic myocardial morphology in the absence of other cardiac
anomalies (the recesses are communicating only with the ventricular
cavity, not the coronary circulation
3). In some familial cases
was described the mechanism considered responsible: a mutation
in the G4.5 gene of the Xq28 chromosome region
4; and (2) noncompaction
of ventricular myocardium (NVM) associated with obstruction
of the right or left ventricular outflow tracts, complex cyanotic
congenital heart disease and coronary artery anomalies.
1 It
is characterized by the persistence of deep intertrabecular
recesses in communication with both the ventricular cavities
and the coronary circulation.
3 In this case the mechanism involved
was novel mutations in the G4.5 gene and mutations in the alpha-dystrobrevin
gene, which is associated with muscular dystrophy in humans.
5
The three major clinical manifestations of this disease are as follows: heart failure, ventricular arrhythmias and thromboembolism. The cardiac insufficiency is both systolic and diastolic and in the greatest number of cases is severe. Especially in the cases of NMV associated with other cardiac diseases the noncompaction is frequently misdiagnosed. The quantitative evaluation for the diagnosis of NVM could be done by determining the ratio of maximal thickness of the noncompacted to compacted layers (measured at end systole in a parasternal short axis view), with a ratio >2 diagnostic of NVM.6 The differential diagnosis is made with diseases with similar echocardiographic patterns (apical hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular dysplasia, endocardial fibroelastosis, cardiac metastases, and left ventricular thrombus). However, both in INMV and NMV the prognosis is bad, and the mortality is high. Until now, the treatment is the classical one for heart failure, and if the patients are diagnosed in the early phases we can consider heart transplant (until now there are few cases described in the literature). In conclusion, NMV is a rare disease, often late diagnosed because of the similarities with other causes of heart failure. As our case illustrated, we must search more carefully the underlying cause of a severe, resistant to treatment heart failure, because may be we can save a life.
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References
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- Sasse-Klaassen Sabine, Probst Susanne, Gerull Brenda, Oechslin Erwin, Nürnberg Peter, Heuser Arnd, et al. Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15. Circulation (2004) 109:2720–3.[Abstract/Free Full Text]
- Rigopoulos A, Rizos IK, Aggeli C, Kloufetos P, Papacharalampous X, Stefanadis C, et al. Isolated left ventricular noncompaction: an unclassified cardiomyopathy with severe prognosis in adults. Cardiology (2002) 98:25–32.[CrossRef][Web of Science][Medline]
- Bleyl SB, Mumford BR, Brown-Harrison MC, Pagotto LT, Carey JC, Pysher TJ, et al. Xq28-linked noncompaction of the ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. Am J Med Genet (1997) 72:257–65.[CrossRef][Web of Science][Medline]
- Ichida F, Tsubata S, Bowles KR, Haneda N, Uese K, Miyawaki T, et al. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation (2001) 103:1256–63.[Abstract/Free Full Text]
- Jenni R, Oechslin E, Schneider J, Attenhofer JC, Kaufmann PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart (2001) 86:666–71.[Abstract/Free Full Text]
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