© 2004 European Society of Cardiology
An unusual cause of heart failure identified by echocardiography in an octogenarian
Cardiac Investigation Unit, St. Vincent*s Hospital Melbourne, P.O. Box 2900, Fitzroy VIC 3065, Australia
* Corresponding author. Tel.: +61-3-9288-4423; fax: +61-3-9288-4422. E-mail address: connelly{at}medstv.unimelb.edu.au
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Abstract |
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 Top Abstract 1. Introduction2. Case report3. Discussion4. ConclusionReferences |
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Non-compaction of the ventricular myocardium is a rare congenital cardiomyopathy that carries an unfavorable prognosis. It is associated with a high incidence of progressive heart failure, thromboembolism and malignant arrhythmias. Echocardiography currently remains the imaging modality most commonly used for diagnosis. We describe an unusual case of isolated non-compaction of the left ventricle in an octogenarian male to highlight the need for echocardiography in all patients with suspected heart failure, in order to determine aetiology, prognosis and assess treatment.
Key Words: Noncompaction • Ventricle • Myocardium • Heart failure • Cardiomyopathy
Received October 10, 2003; Revised January 15, 2004; Accepted March 20, 2004
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1. Introduction |
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TopAbstract1. Introduction2. Case report3. Discussion4. ConclusionReferences |
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Heart failure is a common cause of death and admission to hospital worldwide. Echocardiography has become an essential tool for the diagnosis of congestive cardiac failure [1], allowing an assessment of systolic and diastolic heart function. With the development of Doppler technology, valvular and pericardial abnormalities can be assessed, as well as cardiac haemodynamics to estimate left atrial pressure. It is a well validated non-invasive tool, and can be used to determine prognosis and gauge treatment success. Despite this, transthoracic echocardiography is underutilized in the diagnosis and treatment of congestive cardiac failure.
We report the unusual, and unexpected diagnosis of isolated non-compaction of the left ventricle (INCV) made by echocardiography in an elderly male. The authors are unaware of any case reports in the literature of INCV presenting at such an advanced age.
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2. Case report |
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TopAbstract1. Introduction2. Case report3. Discussion4. ConclusionReferences |
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An 80-year-old man was referred to the emergency department with a 3-week history of progressive dyspnoea and a productive cough. He was an ex-smoker with a smoking history of 40 pack-years, and was known to have chronic obstructive pulmonary disease (COPD) of moderate severity, but no cardiac history of note. He had been active until 4 years prior when his respiratory disease was diagnosed, and was still working part-time as a gardener at the time of presentation. His general practitioner made a presumptive diagnosis of congestive cardiac failure and infective exacerbation of COPD, and had recently commenced oral diuretics, oral steroids and oral antibiotics with little improvement in his dyspnoea and cough.
He was admitted to hospital and underwent the following investigations:
- A chest roentgenogram showed mild cardiomegaly with bilateral pleural effusions and an electrocardiograph demonstrated sinus rhythm with a left bundle branch block (see Fig. 1).
- A Troponin I assay was mildly elevated at 0.9 ug/l (reference range <0.16 µg/l, Bayer ADVIA Centaur, Bayer corporation, Tarrytown. NY. 10591-5097. 92807). His full blood count revealed a mild leucocytosis at 12.6x109/l (reference range 4.0–11.0). Baseline creatinine was elevated at 0.14 mmol/l (reference range 0.07–0.11), urea of 13.2 mmol/l (reference range 3.1–8.3). His arterial blood gases on room air revealed a mixed chronic metabolic and respiratory alkalosis.
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Respiratory function tests confirmed moderate to severe chronic obstructive pulmonary disease (COPD).
The FEV1/FVC ratio was 52%: (predicted ratio 71%), with a FEV1 of 1.08 l: (predicted 2.20 l).
The diffusion capacity was reduced at 59% of that predicted for age.
A clinical diagnosis of an infective exacerbation of COPD with biventricular failure was made and he was treated with regular inhaled bronchodilators, oral corticosteroids, intravenous third generation cephalosporin and oral macrolide antibiotics with oral diuretics.
The patient showed improvement with treatment and was discharged after 4 days, with early outpatient echocardiography and follow up was arranged. The outpatient transthoracic echocardiogram, performed 10 days later, unexpectedly revealed a markedly abnormal left ventricle (LV), with marked trabeculation of the apical, inferior and lateral walls (Figs. 2 and 3). Systolic function was significantly reduced globally with a visually estimated left ventricular ejection fraction of 25%. The right ventricle demonstrated normal size and wall thickness with moderately reduced systolic function. Right ventricular apical non-compaction could not be excluded. Trivial tricuspid regurgitation precluded pulmonary artery pressure estimation.
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LV dP/dt was significantly reduced at 463 mmHg/s and there was mild central mitral regurgitation. Spectral Doppler analysis of mitral inflow revealed peak E and A wave velocities of 0.7 m/s and 1.1 m/s respectively, with a deceleration time of 171 ms. Color Doppler echocardiography demonstrated blood flow into the deep intertrabecular recesses. The end-systolic ratio of the non-compacted to the compacted layer was 2.3:1.
The two-dimensional appearance, combined with the color Doppler findings were consistent with a diagnosis of INCV.
The patient continued to be symptomatic with dyspnoea and despite treatment, died suddenly a month later, prior to scheduled cardiac magnetic resonance imaging to further evaluate the diagnosis. The family declined an autopsy request.
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3. Discussion |
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TopAbstract1. Introduction2. Case report3. Discussion4. ConclusionReferences |
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3.1. Pathogenesis
Non-compaction of the ventricular myocardium is a rare congenital cardiomyopathy characterized by multiple prominent trabeculations of the myocardium, resulting from the intrauterine arrest of normal endomyocardial embryogenesis and compaction of the myocardial fibres. The isolated form of non-compaction of the ventricular myocardium is very rare, and occurs in the absence of any coexisting congenital lesions [2]. Although originally described only in paediatric population's [3], INCV has also recently been recognized as a distinct cardiomyopathy in adults [4] which may present clinically with congestive heart failure, arrhythmia or thromboembolic events. A review of 37 555 echocardiograms over 10 years at University Hospital Zurich revealed 17 cases only, a prevalence of 0.05% in that population.
INCV is thought to result from a morphogenetic abnormality occurring between weeks 5 and 8 of foetal life [5], and therefore, if present, the myocardial structure should be abnormal at birth in all affected patients [6]. However, there seems to be a wide variation in age at clinical presentation, ranging from childhood to late adulthood. Zambrano et al. postulated that the delay in onset of symptoms may be due to slowly progressive ventricular dysfunction from chronic ischaemia caused by perfusion mismatch to these multiple trabeculations [5].
3.2. Diagnosis
Echocardiography currently remains the imaging modality most commonly used for the diagnosis of INCV [7], although magnetic resonance imaging may be helpful. Ritter et al. [8] have validated diagnostic echocardiographic criteria against autopsy and explanted heart specimens. The diagnostic criteria include:
- absence of coexisting congenital structural cardiac abnormalities;
- two layered structure of the left ventricular wall (thick non-compacted endocardial layer and thinner compacted epicardial layer), with the end-systolic ratio of non-compacted to compacted layer >2;
- finding this structure predominantly in the apical and mid-ventricular areas;
- blood flow directly from the ventricular cavity into the deep intertrabecular recesses as assessed by color Doppler echocardiography.
Both systolic and diastolic function abnormalities may be seen. In addition, although symptoms may be present for years, there are inherent difficulties with the diagnosis of this rare condition due to similarities in presentation with more frequently-occurring cardiac and non-cardiac disorders. The differential diagnosis includes persistent intramyocardial sinusoids associated with congenital obstruction of the left or right ventricular outflow tract. More commonly, however, trabeculation can be seen in normal individuals [9] or in hypertrophied hearts with secondary dilatation due to dilated, valvular or hypertensive cardiomyopathies. In the case described above, the absence of systemic hypertension, the apical predominance of the trabeculations and the global pattern of LV dysfunction, combined with the color Doppler findings and lack of co-existing abnormalities made the alternative diagnoses unlikely.
The authors believe diagnostic tools like echocardiography are imperative for confirming the clinical diagnosis of heart failure. In the case described, echocardiography confirmed the clinical diagnosis, and altered the authors’ management plan, with the unexpected diagnosis necessitating anticoagulation and family screening, which previously would not have occurred. Despite this, studies such as the Euroheart Survey suggest that investigations such as echocardiography, aimed at a precise diagnosis regarding the aetiology of heart failure, are underutilized in clinical practice [10].
3.3. Prognosis
To our knowledge, there have been no reported cases of this clinical entity in the octagenarian age group. There are two cases diagnosed in patients aged in their seventies, one aged 71 and another aged 78 who presented with ventricular tachycardia [11]. In a series of 34 adult cases by Oeschelin et al. [12], the mean age at diagnosis was 41 years. They concluded that this form of cardiomyopathy carried an unfavorable prognosis, with the probability of event-free survival for the combined end-points of death or heart transplantation being only 58% at 5 years. This was largely due to a high incidence of progressive heart failure (53%), thromboembolism (24%) and malignant arrhythmias (41%). This case series also demonstrated a familial distribution in three families, and Oeschelin concluded that echocardiographic screening was required in first degree relatives of all patients diagnosed with this condition. However, the case in discussion provides evidence of the wide variability in prognosis, running a prolonged asymptomatic course until the age of 80.
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4. Conclusion |
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TopAbstract1. Introduction2. Case report3. Discussion4. ConclusionReferences |
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Our case highlights the need for echocardiography in all patients with suspected heart failure as recognition of this type of cardiomyopathy may provide valuable prognostic information, as well as allowing the institution of screening programs to allow early diagnosis in first degree relatives. Echocardiography facilitates diagnosis, aids management and can prevent unnecessary treatment. Although there is insufficient data comparing the various treatment modalities in this rare cardiomyopathy, early diagnosis is clearly desirable in order to institute heart failure treatment as well as anticoagulation and anti-arrhythmic strategies to prevent progression of left ventricular dysfunction, thromboembolism and sudden death.
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References |
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TopAbstract1. Introduction2. Case report3. Discussion4. ConclusionReferences |
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- Parrish D.L., Grayburn P.A. Use of echocardiography in patients with congestive heart failure. Cardiol Rev (1998) 6(4):203–212.[Medline]
- Borreguero L.J., Corti R., de Soria R.F., Osende J.I., Fuster V., Badimon J.J. Images in cardiovascular medicine. Diagnosis of isolated non-compaction of the myocardium by magnetic resonance imaging. Circulation (2002) 105(21):E177–E178.[Web of Science][Medline]
- Grillo R., Pipitone S., Mongiovi M., et al. Isolated non-compaction of left ventricle in childhood: clinical experience with 5 cases. Ital Heart J (2002) 3(Suppl. 8):858–863.
- Rigopoulos A., Rizos I.K., Aggeli C., et al. Isolated left ventricular non-compaction: an unclassified cardiomyopathy with severe prognosis in adults. Cardiology (2002) 98(1–2):25–32.[CrossRef][Web of Science][Medline]
- Zambrano E., Marshalko S.J., Jaffe C.C., Hui P. Isolated non-compaction of the ventricular myocardium: clinical and molecular aspects of a rare cardiomyopathy. Lab Invest (2002) 82(2):117–122.[Web of Science][Medline]
- Jenni R., Wyss C.A., Oechslin E.N., Kaufmann P.A. Isolated ventricular non-compaction is associated with coronary microcirculatory dysfunction. J Am Coll Cardiol (2002) 39(3):450–454.
[Abstract/Free Full Text] - Van der Loo B., Jenni R. Isolated non-compaction of the myocardium. Circulation (2003) 107(7):e50.[CrossRef][Medline]
- Ritter M., Oeschlin E., Sutsch G., Attenhofer C., Scheider J., Jenni R. Isolated non-compaction of the myocardium in adults. Mayo Clin Proc (1997) 72:26–32.[Abstract]
- Boyd M.T., Seward J.B., Tajik A.J., Edwards W.D. Frequency and location of prominent left ventricular trabeculations at autopsy in 474 normal human hearts: implications for evaluation of mural thrombi by two-dimensional echocardiography. J Am Coll Cardiol (1987) 9:323–326.[Abstract]
- Thackray S.D., Witte K.K., Nikitin N.P., Clark A.L., Kaye G.C., Cleland G.C. The prevalence of heart failure and asymptomatic left ventricular systolic dysfunction in a typical regional pacemaker population. Eur Heart J (2003) 24(12):1143–1152.
[Abstract/Free Full Text] - Tsui KL, Chan KK, Leung TC, Lam KH, Li SK. Isolated ventricular non-compaction presenting with ventricular tachycardia, Hong Kong Med J, 9(2) April 2003.
- Oechslin E.N., Jost C.H.A., Rojas J.R., Kaufmann P.A., Jenni R. Long-term follow-up of 34 adults with isolated left ventricular non-compaction: a distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol (2000) 36(2):493–500.
[Abstract/Free Full Text]
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