doi: 10.1161/CIRCULATIONAHA.107.741041
(Circulation. 2008;117:e498-e503.)
© 2008 American Heart Association, Inc.
Images in Cardiovascular Medicine |
Extracardiac Venous Heterotaxy Syndrome
Complete Noninvasive Diagnosis by Multimodality Imaging
From the Mayo Clinic Arizona, Scottsdale, Ariz.
Correspondence to Dr Mohsen S. Alharthi, Mayo Clinic Arizona, E Shea Blvd, Scottsdale, AZ 85259. E-mail: alharthi.mohsen{at}mayo.edu
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Introduction |
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 Top Introduction References |
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A 20-year-old man was referred for the assessment of palpitations and associated dyspnea during exertion. He had no other associated cardiovascular symptoms. Physical examination revealed a healthy male with stable vital signs and a normal cardio respiratory examination. ECG, (Figure 1A), chest x-ray (Figure 1B), and blood counts as well as electrolyte panel were normal.
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Transthoracic echocardiography revealed a dilated coronary sinus (Figure 2); in addition, a persistent left superior vena cava was noted (Figure 3). A small coronary-pulmonary arterial fistula was noted (Figure 4). Two-dimensional subcostal echocardiography view demonstrated absence of the hepatic portion of the inferior vena cava with the hepatic veins draining directly into the right atrium (interrupted inferior vena cava). The right suprasternal view revealed venous flow into the right superior vena cava from a dilated azygous vein (Figure 5). Left and right ventricles were normal in size and function.
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Computerized axial tomographic angiography and magnetic resonance imaging confirmed the extracardiac venous anomalies diagnosed by detailed 2-dimensional echocardiography (see Figures 2B, 3B, 4B, 4C, 5B, and 5
C). In addition, computerized axial tomographic angiography showed right-sided polysplenia, a centric liver, and a right stomach fulfilling the diagnostic criteria for heterotaxy with abdominal viscera situs ambiguus (Figure 6 and online-only Data Supplement Movies I to IV).
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Electrophysiological study identified the cause of the exertional palpitations as an atrioventricular nodal reentrant tachycardia, which was successfully managed with an uncomplicated radiofrequency ablation procedure. At 1-year follow-up, the patient is doing well and is asymptomatic.
Background
Human external morphometry is usually that of symmetry, in contradistinction to the internal organs where established left to right asymmetry is the norm. When disturbance of this asymmetry occurs during embryonic development, the terminology of heterotaxy is applied.1,2 Heterotaxy is the nomenclature used to describe any malposition (discordance) of the thoracoabdominal organs and vessels, complex congenital heart disease, and extra cardiac defects or defects involving midline structures. Although the term is used to describe complex congenital anomalies, it also applies to isolated anomalies such as persistent left superior vena cava (SVC) and interrupted inferior vena cava.3,4 An association exists between these anomalies and splenic anomalies.5,6,1 Before the use of advanced echocardiography and noninvasive radiological imaging, most reports about heterotaxy were derived from autopsy series.7–17
When a patient is found to have a cardiac anomaly, a systemic approach to other systems, including the spleen and its function, as well as assessment of ciliary function to rule out primary ciliary dyskinesia, is necessary.18 Complete diagnosis of these complex congenital abnormalities can now be achieved with integrated information from complementary multimodality noninvasive imaging technologies.
Management
The clinical course and management of extracardiac venous heterotaxy syndrome depends on symptoms related to the involved structures. Care includes regular follow-up, endocarditis prophylaxis when indicated, and the use of anticoagulation if abnormal venous flow or venous stasis is noted. In rare cases, surgical correction of anomalous venous drainage may be necessary.7
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Acknowledgments |
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The authors thank Marvin Ruona, Edward Bedrava and Nichole Boruff for technical assistance.
Disclosures
None.
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Footnotes |
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The online-only Data Supplement, which includes movies, is available with this article at http://circ.ahajournals.org/cgi/content/full/117/e498/DC1.
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References |
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TopIntroductionReferences |
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