Extracardiac Venous Heterotaxy Syndrome
2008; Lippincott Williams & Wilkins; Volume: 117; Issue: 25 Linguagem: Inglês
10.1161/circulationaha.107.741041
ISSN1524-4539
AutoresMohsen Alharthi, Farouk Mookadam, Joseph M. Collins, Krishnaswamy Chandrasekaran, Luis R. Scott, A. Jamil Tajik,
Tópico(s)Congenital Heart Disease Studies
ResumoHomeCirculationVol. 117, No. 25Extracardiac Venous Heterotaxy Syndrome Free AccessReview ArticlePDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissionsDownload Articles + Supplements ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toSupplemental MaterialFree AccessReview ArticlePDF/EPUBExtracardiac Venous Heterotaxy SyndromeComplete Noninvasive Diagnosis by Multimodality Imaging Mohsen Alharthi, Farouk Mookadam, Joseph Collins, Krishnaswamy Chandrasekaran, Luis Scott and A. Jamil Tajik Mohsen AlharthiMohsen Alharthi From the Mayo Clinic Arizona, Scottsdale, Ariz. , Farouk MookadamFarouk Mookadam From the Mayo Clinic Arizona, Scottsdale, Ariz. , Joseph CollinsJoseph Collins From the Mayo Clinic Arizona, Scottsdale, Ariz. , Krishnaswamy ChandrasekaranKrishnaswamy Chandrasekaran From the Mayo Clinic Arizona, Scottsdale, Ariz. , Luis ScottLuis Scott From the Mayo Clinic Arizona, Scottsdale, Ariz. and A. Jamil TajikA. Jamil Tajik From the Mayo Clinic Arizona, Scottsdale, Ariz. Originally published24 Jun 2008https://doi.org/10.1161/CIRCULATIONAHA.107.741041Circulation. 2008;117:e498–e503A 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. Download figureDownload PowerPointFigure 1. A, Twelve-lead ECG with normal sinus rhythm, cardiac axis, and normal intervals. B, Chest x-ray postero-anterior and lateral views showing normal cardiac silhouette, but gastric air noted on the right subcostal in this case compared with the usual location.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. Download figureDownload PowerPointFigure 2. Dilated coronary sinus shown by 2-dimensional echocardiography, long axis parasternal view (A) and computed tomography with contrast, coronal view (B). CS indicates coronary sinus; RV, right ventricle; LV, left ventricle; LA, left atrium; RA, right atrium; Ao, Aorta; RPA, right pulmonary artery, AZ V, Azygous vein; and H AZV, hemiazygous vein.Download figureDownload PowerPointFigure 3. Persistent left superior vena cava shown by 2-dimensional echocardiography, left suprasternal view (A), and a coronal view by computed tomography with contrast injected from both arms (B). L.SVC indicates left superior vena cava; R, SVC, right superior vena cava; Ao, aorta; and AZ V, azygous vein.Download figureDownload PowerPointFigure 4. A small coronary fistula arising from left anterior descending branch to pulmonary trunk shown by: 2-dimensional short-axis view (A) and by computerized axial tomographic angiography, 3-dimensional reconstruction images (B and C). LAD indicates left anterior descending artery; PA, pulmonary artery; PV, pulmonary valve; PR, pulmonary regurgitation; Ao, aorta; RCA, right coronary artery; and CX, circumflex artery.Download figureDownload PowerPointFigure 5. Abnormally dilated azygous vein draining into right SVC shown by right suprasternal color Doppler view (A), computed tomography with contrast showing the dilated azygous vein mimicking aortic arch draining in to the right SVC (B), and other computed tomographic image showing the azygous vein giving picture similar to double aortic arch (C). R.SVC indicates right superior vena cava; AZ V, azygous vein; and Ao, aorta.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 5C). 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). Download figureDownload PowerPointFigure 6. Computed tomographic image of abdomen with intravenous contrast showing visceral situs ambiguus. Where liver and portal vein are in the midline, right-sided splenules are seen in this image (2 out of 4 could be identified) and right-sided stomach. PV indicates portal vein; Ao, aorta; AZ V, azygous vein; and H-AZ V, hemiazygous vein.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.BackgroundHuman 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.7–17When 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.ManagementThe 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.7The online-only Data Supplement, which includes movies, is available with this article at http://circ.ahajournals.org/cgi/content/full/117/e498/DC1.The authors thank Marvin Ruona, Edward Bedrava and Nichole Boruff for technical assistance.DisclosuresNone.FootnotesCorrespondence to Dr Mohsen S. Alharthi, Mayo Clinic Arizona, E Shea Blvd, Scottsdale, AZ 85259. E-mail: [email protected] References 1 Bartram U, Wirbelauer J, Speer C. Heterotaxy syndrome: asplenia and polysplenia as indicators of visceral malposition and complex congenital heart disease. Biol Neonate. 2005; 88: 278–290.CrossrefMedlineGoogle Scholar2 Zhu L, Belmont J, Ware S. Genetics of human heterotaxias. Eur J Hum Genet. 2006; 1: 17–25.Google Scholar3 Dwight T. Absence of the inferior vena cava below the diaphragm. Anat Physiol. 1901; 35: 7–20.1.Google Scholar4 Anderson R, Adams P, Burke B. Anomalous inferior vena cava with azygous drainage: so-called absence of the inferior vena cava. Am Heart J. 1955; 49: 318–322.CrossrefMedlineGoogle Scholar5 Rose V, Izukawa T, Moes C. Syndromes of asplenia and polysplenia: a review of cardiac and non-cardiac malformations in 60 cases with special reference to diagnosis and prognosis. Br Heart J. 1975; 37: 840–852.CrossrefMedlineGoogle Scholar6 Moller J, Nakib A, Anderson R, Edwards J. Congenital cardiac disease associated with polysplenia: a developmental complex of bilateral "left-sidedness." Circulation. 1967; 36: 789–799.CrossrefMedlineGoogle Scholar7 Rubino M, Praagh S, Kadoba K, Pessetto R, Praagh R. Systemic and pulmonary venous connections in visceral heterotaxy with asplenia. Diagnostic and surgical considerations based on seventy-two autopsied cases. J Thorac Cardiovasc Surg. 1995; 110: 641–650.CrossrefMedlineGoogle Scholar8 Huhta J, Smallhorn J, Macartney F, Anderson R, De leval M. Cross-sectional echocardiographic diagnosis of systemic venous return. Br Heart J. 1982; 48: 388–403.CrossrefMedlineGoogle Scholar9 Hildebrand H, Gunzenhauser D, Weber K, Frober R, Wetter D. Heterotaxia syndrome without congenital cardiac defects in dilated cardiomyopathy. Dtsch Med Wochenschr. 2007; 132: 931–937.CrossrefMedlineGoogle Scholar10 Fulcher A, Tumer M. Abdominal manifestations of situs anomalies in adults. Radiographics. 2002; 22: 1439–1456.CrossrefMedlineGoogle Scholar11 Ticho B, Goldstein A, Praagh R. Extracardiac anomalies in the heterotaxy syndromes with focus on anomalies of midline-associated structures. Am J Cardiol. 2000; 85: 729–734.CrossrefMedlineGoogle Scholar12 Brueckner M. Heterotaxia, congenital heart disease, and primary ciliary dyskinesia. Circulation. 2007; 115: 2793–2795.LinkGoogle Scholar13 Afzelius BA. Situs inversus and ciliary abnormalities: what is the connection? Int J Dev Biol. 1995; 39: 839–844.MedlineGoogle Scholar14 Maldjian P, Saric M. Approach to dextrocardia in adults: review. Am J Roentgenol. 2007; 188: S39–S49.MedlineGoogle Scholar15 Tajik AJ, Hagler D, Lie J. Two-dimensional real-time ultrasonic imaging of the heart and great vessels: technique, image orientation, structure identification, and validation. Mayo Clin Proc. 1978; 53: 271–303.MedlineGoogle Scholar16 Jelinek JS, Stuart PL, Done SL, Ghead N, Rudd SA. MRI of polysplenia syndrome. Magn Reson Imaging. 1989; 7: 681–686.CrossrefMedlineGoogle Scholar17 Koito H, Suzuki J, Ohkudo N, Ishiguro Y, Iwasaka T, Inada M, Nakano Y. Three-dimensional reconstructed magnetic resonance imaging for diagnosing persistent left superior vena cava: comparison with magnetic resonance angiography and plain chest radiography. J Cardiol. 1996; 28: 161–70.MedlineGoogle Scholar18 Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL, Robinson BV, Minniz SL, Olbrich H, Severin T, Ahrens P, Lang L, Morillas HN, Noone PG, Zariwala MA, Knowles MR. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation. 2007; 115: 2814–2821.LinkGoogle Scholar eLetters(0)eLetters should relate to an article recently published in the journal and are not a forum for providing unpublished data. Comments are reviewed for appropriate use of tone and language. Comments are not peer-reviewed. Acceptable comments are posted to the journal website only. Comments are not published in an issue and are not indexed in PubMed. Comments should be no longer than 500 words and will only be posted online. References are limited to 10. Authors of the article cited in the comment will be invited to reply, as appropriate.Comments and feedback on AHA/ASA Scientific Statements and Guidelines should be directed to the AHA/ASA Manuscript Oversight Committee via its Correspondence page.Sign In to Submit a Response to This Article Previous Back to top Next FiguresReferencesRelatedDetailsCited By Bhutani J, Batra A, Doomra M and Mahajan K (2022) Hemiazygous continuation of inferior vena cava draining into the coronary sinus via persistent left superior vena cava: a rare anomaly, Monaldi Archives for Chest Disease, 10.4081/monaldi.2022.2275 Bédard E, Rodés-Cabau J and Uemura H (2018) Heterotaxy and Isomerism of the Atrial Appendages Diagnosis and Management of Adult Congenital Heart Disease, 10.1016/B978-0-7020-6929-1.00057-5, (579-585), . Balan A, Lazoura O, Padley S, Rubens M and Nicol E (2012) Atrial isomerism: A pictorial review, Journal of Cardiovascular Computed Tomography, 10.1016/j.jcct.2011.10.019, 6:2, (127-136), Online publication date: 1-Mar-2012. Bédard E, Rodés-Cabau J and Uemura H (2011) Heterotaxy and Isomerism of the Atrial Appendages Diagnosis and Management of Adult Congenital Heart Disease, 10.1016/B978-0-7020-3426-8.00053-8, (397-402), . June 24, 2008Vol 117, Issue 25 Advertisement Article InformationMetrics https://doi.org/10.1161/CIRCULATIONAHA.107.741041PMID: 18574050 Originally publishedJune 24, 2008 PDF download Advertisement SubjectsComputerized Tomography (CT)EchocardiographyImaging
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