Asian Cardiovasc Thorac Ann 2006;14:161-163
© 2006 Asia Publishing EXchange Ltd
Holt-Oram Syndrome with Hemiazygous Continuation of Inferior Vena Cava
Praveen K Varma, MCh,
Ramachandran Padmakumar, DM1,
Sivadasanpillai Harikrishnan, DM1,
Thomas Koshy, MD2,
Kurur S Neelakandhan, MCh
Department of Cardiovascular and Thoracic Surgery
1 Department of Cardiology
2 Department of Anesthesiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India
For reprint information contact: Praveen K Varma, MCh Tel: 91 471 244 4496 Fax: 91 471 244 6433 Email: pkvarma{at}sctimst.ac.in, Department of Cardio-Vascular and Thoracic Surgery, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala 695 011, India.
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ABSTRACT
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A rare and previously unreported combination of Holt-Oram syndrome, atrial septal defect, patent ductus arteriosus, isolated left atrial isomerism and inferior vena caval interruption with hemiazygous continuation to the left superior vena cava is described.
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INTRODUCTION
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Congenital cardiac and upper-limb malformations frequently occur in association and are classified as heart-hand syndromes. The prototypical heart-hand disorder is the Holt-Oram syndrome, which is characterized by cardiac septation defects and pre-axial radial ray abnormalities.1 In patients with atrial isomerism, anomalies of systemic venous return are common. The inferior vena cava is often interrupted with azygous extension draining to the right superior vena cava (SVC) or hemiazygous extension to the left SVC. These anomalies are much more common in left atrial isomerism.2
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CASE REPORT
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A 17-year-old female patient was evaluated for dyspnoea on exertion (NYHA class 2). She was the only sibling of a non–consanguineous marriage. The mother had phocomelia of both upper limbs however no structural heart defect was detected on transthoracic echocardiogram (TTE). The patient had phocomelia of the left upper limb and severe deformity of the right upper limb, however the lower limbs were normally developed. Chest roentogram showed mesocardia, plethoric lung fields, normal thoracic situs and left arch of aorta. Electrocardiogram showed first-degree heart block with normal QRS axis. Transthoracic echocardiogram showed a 25mm atrial septal defect in the secundum location and a 5mm patent ductus arteriosus (PDA). The coronary sinus was dilated, suggestive of left SVC. She underwent cardiac catheterization, which showed a left to right shunt 4:1 at the atrial level and a small PDA. The inferior vena cava (IVC) was seen on the right side of the abdominal aorta crossing over to the left due to interruption, and hemiazygous continuation to the superior vena cava (Figure 1
and Figure 2). Ultrasonic scan of the abdomen revealed normal visceral situs. Pulmonary artery (PA) pressure was within normal limits.
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Figure 1. The pigtail catheter is in the aorta, the catheter (Arrow) is in the IVC and is seen to the right of the aorta.
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Figure 2. The catheter (Arrow) is in the IVC and crosses over to the left from the right side, the catheter course is hemiazygous continuation of inferior vena cava to left superior vena cava – coronary sinus – right atrium – across the atrial septal defect – left inferior pulmonary vein.
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At surgery, the right SVC was found to be small in size (4mm). The left SVC was dilated, with dilatation of the coronary sinus. There was a 5mm bridging vein connecting both SVCs. There was left atrial isomerism, with the right atrium (RA) morphologically resembling the left atrium. A 3.5cm x 3.5cm wide secundum ASD and a 5mm PDA were present. Hepatic veins were draining separately to the right atrium.
Cardio-pulmonary bypass (CPB) was initiated by aortic and right atrial appendage cannulation. The left SVC was looped and cannulated with a 28F right-angled cannula (DLP, Medtronic, Minneapolis, MN, USA). The right SVC was snugged. The PA was vented. After cardioplegic arrest, the PA was opened and the PDA orifice closed from within. The left SVC was snugged and the RA cannula was removed. Oblique right atriotomy was performed and hepatic venous drainage was diverted by venting. The ASD was closed by an autologous pericardial patch and right atriotomy, and the PA was closed. The patient was weaned off CPB successfully.
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DISCUSSION
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In 1960, Holt and Oram reported an association of atrial septal defect, cardiac arrhythmia and limb malformations in nine members of a family spanning four generations. Subsequently, eight additional families were reported with similar heart-hand syndromes. The Holt-Oram syndrome is an autosomal dominant condition characterized by skeletal abnormalities with congenital cardiac defects. The clinical manifestations vary from sub-clinical radiographic findings to overt life threatening disease. The upper limb anomalies involve structures derived from the embryonic radial ray, typically radial, carpal and thenar bones.3 Such anomalies vary from subtle clinical findings to frank phocomelia. More than 85% of affected individuals have cardiac malformations particularly atrial septal or ventricular septal defects.4 Disturbances of cardiac rhythm occur frequently with variable degrees of atrio-ventricular block. The genetic defect is present on the long arm of chromosome 12 (12q2).3 The prevalence of this disorder is estimated to be 0.95 per 100,000 total births with 85% of cases due to new mutations.
Absence of the hepatic segment of the IVC, with azygous continuation into the right or left SVC has been reported in postmortem examinations since 1793. Moller et al, analyzing 12 cases of visceral heterotaxy with polysplenia, concluded that interrupted IVC represents one of the characteristics of left atrial isomerism.5 The reported incidence is as high as 85%. In patients presenting for surgery, left atrial isomerism is more common than right. While the atrial isomerism nearly always corresponds to thoracic isomerism, this is not invariably the case. Similarly it may occur with normal visceral situs.2 In patients with atrial isomerism, anomalies of systemic venous return are common. The IVC is often interrupted with azygous or very rarely hemiazygous continuation.2 Bilateral SVC occurs in about one-third of cases, but is more common in left atrial isomerism. The hepatic veins commonly connect directly and separately to the atrium from below. Such direct connection is present in all patients with IVC interruption.2
Anomalies of systemic venous return are occasionally encountered in association with congenital heart disease. Persistence of left SVC is seen in 0.05% of the general population, but is more often seen in association with atrial isomerism. It results from persistence of the left anterior cardinal vein and usually drains into the coronary sinus. Alternatively, it may drain into the left atrium producing right to left shunt.
The retroperitoneal venous system develops from three paired fetal venous systems: posterior cardinal, sub-cardinal and the supra-cardinal systems.6 The sub-cardinal system gives rise to the pre-renal segment of the IVC. The supra-cardinal system gives rise to the post-renal segment of the IVC below the diaphragm. Above the diaphragm, they form the azygous and hemiazygous systems. Development of the IVC involves a complex process of vessel fusion and regression and development of midline anastomosis. Failure of union of hepatic and sub-cardinal vessels results in IVC interruption, which continues via the supra-cardinal system to form azygous or hemiazygous continuity to the SVC. The hemiazygous vein can take three routes to drain into the right atrium. It may 1) drain into the azygous vein and to the right SVC; 2) drain to an accessory hemiazygous vein and from there to the superior intercostal vein and thus to the right atrium, or 3) drain to the left SVC, as in this case.
Anomalies of systemic and pulmonary veins are not uncommon in atrial septal defects-more so when associated with atrial isomerism. Correct preoperative diagnosis of venous anomalies is essential for the appropriate performance of cardiopulmonary bypass procedures.
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ACKNOWLEDGMENTS
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The authors wish to thank Mr. Lijikumar of our medical illustration department for providing help in the preparation of the figures.
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REFERENCES
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- Basson CT, Solomon SD, Weissman B, MacRae CA, Poznanski AK, et al. Genetic heterogeneity of heart-hand syndromes. Circulation 1995;91:1326–9.[Abstract/Free Full Text]
- Kouchoukos NT, Blackstone EH, Doty DB, Hanley FL, Karp RB. Atrial Isomerism. In Kirklin/Barratt-Boyes Cardiac Surgery, 3rd ed. Vol. 2. Churchill Livingstone Inc., 2003:1613–14.
- Basson CT, Cowley GS, Solomon SD, Weissman B, Poznanski AK, et al. The clinical and genetic spectrum of the Holt-Oram syndrome (Heart-Hand Syndrome). N Engl J Med 1994;330:885–91.[Abstract/Free Full Text]
- Lin AE, Perloff JK. Upper limb malformations associated with congenital heart disease. Am J Cardiol 1985;55:1576–83.[Medline]
- Moller JH, Nakib A, Anderson RC, Edwards JE. Congenital cardiac disease associated with polysplenia. A developmental complex of bilateral "left-sidedness". Circulation 1967;36:789–99.[Abstract/Free Full Text]
- Mayo J, Gray R, St. Louis E, Grosman H, McLoughlin M, et al. Anomalies of the inferior vena cava. Am J Roentgenol 1983; 140:339–45.[Free Full Text]
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ABSTRACT
INTRODUCTION
