European Journal of Heart Failure 2008 10(8):811-813; doi:10.1016/j.ejheart.2008.06.006
© 2008 European Society of Cardiology
A case of congenital cardiomyopathy with acute heart failure
Riccardo Ieva,
Michele Correale* and
Matteo Di Biase
Department of Cardiology, University of Foggia Italy
* Corresponding author. Department of Cardiology, "Ospedali Riuniti" OO.RR, viale L Pinto, 1. 71100 Foggia, Italy. Tel.: +39 0881733652; fax +39 0881745424. E-mail address: opsfco{at}tin.it (M. Correale).
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Abstract
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A 45-year-old woman was admitted to our cardiology department
for palpitations and dyspnoea. She had previously been investigated
by echocardiography several times, resulting in a diagnosis
of hypertrophic cardiomyopathy. However, a congenitally corrected
transposition of the great arteries was diagnosed by our echocardiographic
examination. The patient underwent electrophysiological evaluation
and the accessory pathway was successfully ablated by applying
radiofrequency pulses. This case report identifies that in patients
with congenitally corrected transposition of the great arteries
the primary diagnosis by echocardiography can sometimes be missed
and that these patients are increasingly liable to develop Congestive
Heart Failure with advancing age. In order to avoid diagnostic
mistakes, more widespread dissemination of information about
this congenital heart defect is essential.
Key Words: Congenitally corrected transposition of the great arteries • Congenital heart disease • Transoesophageal echocardiography • Heart failure • Cardiac imaging
Received February 17, 2008; Revised April 8, 2008; Accepted June 9, 2008
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1. Case report
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A 45-year-old woman, with a history of diabetes mellitus, was
admitted to the Department of Cardiology, University of Foggia,
for palpitations and dyspnoea. She had previously been investigated
by echocardiography several times, resulting in a diagnosis
of hypertrophic cardiomyopathy. Our subsequent echocardiographic
examination showed the aorta to arise from the morphological
RV (systemic ventricle), which was identified by the three leaflet
(tricuspid) AV valve, that inserted more apically than the mitral
valve (
Fig. 1). The pulmonary trunk, identified by its bifurcation,
arose from the morphological LV ("pulmonic ventricle") (
Fig. 2).
The systemic ventricle (morphological RV) was mild dilated,
with severe hypertrophy (the septum wall was 18 mm in thickness),
and systolic function was mildly reduced (ejection fraction
was 40%). There was moderate atrioventricular (tricuspid) valve
regurgitation. The "pulmonic" ventricle (LV) showed normal function
and there was mild atrioventricular (mitral) valve regurgitation.
Persistent patency of oval-shaped foramen was observed. The
aorta was anterior and to the left of the pulmonary trunk, and
the two vessels were side by side. Cautious use of diuretics
and of digitalis glycosides reduced symptoms of pulmonary congestion.
Holter monitoring demonstrated incessant tachycardia with only
brief periods of sinus rhythm. The patient underwent electrophysiological
evaluation and the accessory pathway was successfully ablated
by applying radiofrequency pulses.
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Fig. 1 Apical four-chamber view showing both left atrial and left appendage dilatation and in the correct position (normal atrial site), a smooth interventricular septal right surface against the trabeculated septal left surface, permitting the diagnosis of ventricular inversion and the three leaflet tricuspid valve inserted more apically than the mitral valve.
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2. Discussion
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Congenitally corrected transposition of the great arteries (CCTGA)
is a rare form of congenital heart disease, first described
by Von Rokitansky in 1875
[1]. It accounts for less than 1% of
all forms of congenital heart disease. In this anomaly, the
right atrium enters the morphological LV, which gives rise to
the pulmonary artery, and the left atrium communicates with
the morphological RV (systemic ventricle), which gives rise
to the aorta. Thus, AV and ventriculoarterial discordance exists,
and although blood flows in the normal direction, it passes
through the "wrong" ventricular chamber. The aorta is also usually,
but not universally, anterior and to the left, and the great
arteries may be side by side. Because the tricuspid valve always
enters a morphological RV, it too is on the left side in the
systemic circulation and is more appropriately termed the systemic
AV valve
[2]. Thus, the LV supplies the pulmonary circulation,
and the morphological RV supports the systemic circulation (
Table 1).
CCTGA is usually associated with a severely reduced life expectancy
owing to ventricular septal defects (74%), pulmonary valve stenosis
(74%), systemic (tricuspid) valve abnormalities (38%), and complete
heart block (5%). Only 1-10% of individuals with CCTGA have
no associated defects
[3]. Patients with CCTGA are increasingly
subject to Congestive Heart Failure (CHF) with advancing age;
this complication is extremely common by the fourth and fifth
decades. Tricuspid (systemic atrioventricular) valvular regurgitation
is strongly associated with RV (systemic ventricle) dysfunction
and CHF
[4]. Life expectancy is limited by the onset of systemic
(morphologically right) ventricular failure
[5]. Although long-term
survival is possible, it is exceptional and tends to occur in
those patients without associated abnormalities and in whom
no operation has been undertaken
[6]. The correct echocardiographic
diagnosis of cardiomyopathy is important for medical management;
in addition, digitalis glycosides and diuretics should generally
be avoided in cases of hypertrophic cardiomyopathy.
Sometimes in adulthood the primary diagnosis of CCTGA by echocardiography
can be missed, especially if this rare condition is not suspected.
This is probably due to some similarities (such as prominent
trabeculae) between the echocardiographic features of congenitally
corrected transposition of the great arteries and other cardiomyopathies.
Differential diagnosis includes hypertrophic cardiomyopathy,
dilated cardiomyopathy, prominent normal myocardial trabeculations,
cardiac tumours and left ventricular apical thrombus. Following
previous echocardiographic examinations in this patient, a hypertrophic
cardiomyopathy, with predominant involvement of the apex and
interventricular septum was diagnosed from the severe hypertrophy
of the systemic ventricle. We excluded hypertrophic cardiomyopathy,
due to the presence of trabeculae and inter-trabecular recesses,
which are typically absent in this type of cardiomyopathy. In
this case, the prominent trabeculations had the same echogenicity
as the surrounding myocardium, unlike apical thrombi which have
a different echogenicity
[7], and they were localized to apical
segments of the ventricle, despite prominent normal myocardial
trabeculations
[8]. A congenitally corrected transposition of
the great arteries was diagnosed from the position of three
leaflet (tricuspid) AV valve, which was inserted more apically
than the mitral valve, and, above all, from the atrioventricular
and ventriculoarterial discordance. In this congenital cardiomyopathy
the systemic ventricle (RV) shows both prominent trabeculae
and septomarginal trabeculations ("septal band"). These prominent
myocardial trabeculations might also be recognized in dilated
cardiomyopathy, but to a lesser extent than in congenitally
corrected transposition of the great arteries. Two-dimensional
echocardiography should provide enough information to achieve
the correct diagnosis of this cardiac malformation and the associated
anomalies
[9]. If the images are not of good quality, a transoesophageal
examination could be performed, however, today it may be more
appropriate to perform an MRI study because this is a non-invasive
examination and it provides a potential tool for more accurate
diagnosis (intracardiac and great vessels anatomy, biventricular
and valvular function). Thanks to the great success of paediatric
cardiac care, the overall number of adult patients with congenital
heart disease is now greater than the number of paediatric cases.
Thus, in order to avoid diagnostic mistakes among echocardiographers,
more widespread knowledge of this congenital heart defect is
essential.
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References
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- Von Rokitansky K. Pathologisch-anatomische Abhandlung. Vienna, W. Braumuller, 1875: 83-6.
- Warnes C.A. Transposition of the great arteries. Circulation. (2006) 114(24):2699–2709.[Abstract/Free Full Text]
- Ikeda U., Furuse M., Suzuki O., Kimura K., Sekiguchi H., Shimada K. Long term survival in aged patients with corrected transposition of the great arteries. Chest (1992) 101:1382–1385.[Abstract/Free Full Text]
- Graham T.P. Jr, Bernard Y.D., Mellen B.G., et al. Long-term outcome in congenitally corrected transposition of the great arteries: a multi-institutional study. J Am Coll Cardiol (2000) 36(1):255–261.[Abstract/Free Full Text]
- Lundstrom U., Bull C., Wyse R.K.H., Somerville J. The natural and "unnatural" history of congenitally corrected transposition. Am J Cardiol (1990) 65:1222–1229.[CrossRef][Web of Science][Medline]
- Presbitero P., Somerville J., Rabajoli F., Stone S., Conte M.R. Corrected transposition of the great arteries without associated defects in adult patient: clinical profile and follow up. Br Heart J (1995) 74:57–59.[Abstract/Free Full Text]
- Asinger R.W., Mikell F.L., Sharma B., Hodges M. Observations on detecting left ventricular thrombus with two-dimensional echocardiography: emphasis on avoidance of false positive diagnoses. Am J Cardiol (1981) 47:145–156.[CrossRef][Web of Science][Medline]
- 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]
- Pastor E., Pena R., Cabrera A., et al. Atrioventricular and ventriculoarterial discordance (corrected transposition of the great vessels). Diagnosis with bidimensional echocardiography. Rev Esp Cardiol (1992) 45(10):657–660.[Medline]
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Abstract
1. Case report