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A Rare Association of Pulmonary Hypertension and Dextrocardia with Poland Syndrome
CLINICAL SPOTLIGHT
Clinical Spotlight
A Rare Association of Pulmonary Hypertension and Dextrocardia with Poland Syndrome Jwalant Raval, MBBS ∗ , Vinayak Nagaraja, MBBS, David Burgess, PhD, FRACP, Suzanne Eshoo, PhD, FRACP, Norman Sadick, PhD, FRACP and A. Robert Denniss, MD, MSc, FRACP Department of Cardiology, Blacktown Hospital, Australia
Poland syndrome is a rare congenital abnormality with an estimated incidence of 1 in 20,000 to 1 in 30,000 live births. We report and discuss this rare combination of pulmonary hypertension and dextrocardia with Poland syndrome. This case report also highlights the underlying pathogenetic mechanisms during foetal development and the potential to misdiagnose cardiac ischaemia in a patient with an anatomic anomaly. (Heart, Lung and Circulation 2013;22:778–780) Crown Copyright © 2013 Published by Elsevier Inc. on behalf of Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). All rights reserved. Keywords. Poland syndrome; Dextrocardia; Pulmonary hypertension
Introduction
Case Report
P
A 61 year-old Caucasian man presented to the Emergency Department with sudden onset of central chest pain. This was non-exertional, non-diaphoretic, non-pleuritic and improved with aspirin and nitrates. He had a background history of type 2 diabetes, hypertension, and hyperlipidaemia. The patient was known to have dextrocardia. He was not taking any medications, was unemployed and was suffering from anxiety. There was no family history of Poland syndrome. On examination, pulse was 100 beats per minute and blood pressure was 149/93 mm Hg. He had rib defects on the left chest, with the left nipple higher than the right nipple (Photograph 1). A right-sided electrocardiogram (ECG) revealed sinus tachycardia and T wave inversion in the anterolateral leads. An ECG taken about two years ago did not show any T wave inversion. Chest X-ray showed dextrocardia with a left-sided aortic knuckle and a left-sided gastric bubble (Fig. 1). Serial high sensitivity troponins were elevated to 24 and 40 ng/l. He continued to have intermittent chest pain at rest. There was no further evolution of the ECG changes, but in light of the ECG changes on this admission being new, and the troponin rise, he underwent coronary angiography via the right radial approach. He did not have any significant obstructive coronary artery disease and aortogram showed the left sided aortic arch. He also had brachydactyly of the left hand and a hypoplastic left upper extremity (Photograph 2). A right heart study at the same time showed pulmonary artery pressure of
oland syndrome is a rare congenital abnormality with an estimated incidence of 1 in 20,000 to 1 in 30,000 live births [1]. The genetics of Poland syndrome indicates that a sporadic mutation occurs without a clear inheritance pattern. It is characterised by unilateral aplasia/hypoplasia of the pectoralis major and ipsilateral deformities in the extremities. The syndrome is believed to be caused by a brief interruption or reduction in circulation of the subclavian and vertebral arteries or their smaller branches during the first six weeks of embryonic development [2]. A three to one male predominance is typically seen [3] and three-quarters of cases involve the right hemithorax and upper extremity [4]. The association of dextrocardia with left sided Poland syndrome is very rare, with only 23 cases thus far described in the literature [1,4–9]. A handful of those cases have involved rib defects and pain on the left side and one reported right sided chest pain [10]. We report and discuss this rare combination of dextrocardia and pulmonary hypertension with Poland syndrome. As far as we know so far only one case has been reported with the Poland syndrome and pulmonary hypertension [11]. This case report also highlights the underlying pathogenetic mechanisms during foetal development and the potential to misdiagnose cardiac ischaemia in a patient with an anatomic anomaly. Received 24 November 2012; received in revised form 18 February 2013; accepted 21 March 2013; available online 18 April 2013 ∗ Corresponding author. Tel.: +61 0298818000. E-mail address: jwalant [email protected] (J. Raval).
Crown Copyright © 2013 Published by Elsevier Inc. on behalf of Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). All rights reserved.
1443-9506/04/$36.00 http://dx.doi.org/10.1016/j.hlc.2013.03.076
Raval et al. Association of Pulmonary Hypertension and Dextrocardia with Poland Syndrome
779
Figure 1. Chest X-ray showing dextrocardia with a left-sided aortic knuckle and a left-sided gastric bubble.
61 mm Hg. The pulmonary artery wedge pressure was not able to be measured due to technical problems in reaching the pulmonary artery (eventually achieved with a multipurpose catheter), and patient discomfort and movement. Interestingly, his echocardiogram did not show any significant tricuspid regurgitation and pulmonary pressure could not be measured. He then underwent CT pulmonary angiogram (CTPA) to exclude pulmonary embolism. CTPA
Photograph 1. Left nipple higher than the right nipple.
did not show pulmonary embolism but demonstrated an asymmetrical thorax with the left upper thorax much smaller compared to the right and the absence of pectoralis major on the left (Fig. 2). BNP levels were not assayed as there were no symptoms or signs of heart failure. Cardiac magnetic resonance imaging (MRI) confirmed
Figure 2. CT pulmonary angiogram showing missing ribs and hypoplastic lung on left side.
Figure 3. Cardiac MRI demonstrating shift of the cardiac axis to the right side, consistent with dextrocardia. The aortic arch remains left-sided.
Photograph 2. Brachydactyly of the left hand and a hypoplastic left upper extremity.
CLINICAL SPOTLIGHT
Heart, Lung and Circulation 2013;22:778–780
CLINICAL SPOTLIGHT
780
Raval et al. Association of Pulmonary Hypertension and Dextrocardia with Poland Syndrome
dextrocardia, normal origin of the great vessels, normal left and right ventricular size and contractility at rest and moderate left ventricular hypertrophy (Fig. 3). Delayed hyperenhancement cardiac MRI did not show any evidence of myocardial infarction.
Discussion An Italian case series [12] of 122 patients suggested mechanical factors during embryonic life could explain the strong association between left-sided Poland syndrome and dextrocardia. According to their hypothesis, partial agenesis of two or more ribs is needed to displace the heart towards the right side. Atasoy et al. [13] found a homozygote A1298C MTHFR, heterozygote Factor V H1299R, and Factor II G20210A mutations in the thrombophilia genes, which might be the cause of malformations resulting from thrombosed microvasculature in the foetus during the first half of gestation when chondrification of the posterior arch of atlas occurs. A thrombolytic screen was not performed in this patient as there had not been any clinically evident thrombotic process previously. This case illustrates the potential to misdiagnose cardiac ischaemia in a patient with an anatomic anomalies and atypical chest pain, even when there is a small rise in troponin. It also demonstrates that patients with dextrocardia can undergo coronary angiography via the right radial route. Although microvascular dysfunction remains a possibility in this patient, the ECG changes did not evolve, and may have been related to the moderate left ventricular hypertrophy. The chest pain was thought to be musculoskeletal in origin at discharge. A precise cause for the small troponin leak was not established. The patient was referred to a respiratory physician to have formal pulmonary function tests as his pulmonary hypertension could be secondary to restrictive lung disease. Unfortunately, the patient declined to have the pulmonary function tests.
Heart, Lung and Circulation 2013;22:778–780
References [1] Cordero Garcia C, Nieto Castilla A, Lopez Jimenez E, Amores Garcia I. Dextrocardia associated with leftsided Poland syndrome. Am J Phys Med Rehabil 2009; 88(2):168. [2] Moir CR, Johnson CH. Poland’s syndrome. Semin Pediatr Surg 2008;17(3):161–6. [3] Lord MJ, Laurenzano KR, Hartmann Jr RW. Poland’s syndrome. Clin Pediatr 1990;29(10):606–9. [4] Ferraro GA, Perrotta A, Rossano F, D’Andrea F. Poland syndrome: description of an atypical variant. Aesthetic Plast Surg 2005;29(1):32–3. [5] Lacorte D, Marsella M, Guerrini P. A case of Poland syndrome associated with dextroposition. Ital J Pediatr 2010;36: 21. [6] Mutlu H, Sildiroglu O, Basekim CC, Kizilkaya E. A variant of Poland syndrome associated with dextroposition. J Thorac Imaging 2007;22(4):341–2. [7] Fraser FC, Teebi AS, Walsh S, Pinsky L. Poland sequence with dextrocardia: which comes first? Am J Med Genet 1997;73(2):194–6. [8] Sepulveda W. Poland syndrome: a rare cause of cardiac dextroposition in the fetus. Prenat Diagn 2009;29(9):903–5. [9] Lee SH, Kim JB, Park NH, Keum DY, Kim YH. Rare combination of dextrocardia with right-sided Poland syndrome. Ann Thorac Surg 2012;94(4):106. [10] Kim SJ, Morelli R. Right-sided chest pain in Poland syndrome. N Z Med J 2011;124(1341):65–8. [11] Kabukcu HK, Sahin N, Kanevetci BN, Titiz TA, Bayezid O. Anaesthetic management of patient with Poland syndrome and rheumatic mitral valve stenosis: a case report. Ann Card Anaesth 2005;8(2):145–7. [12] Torre M, Baban A, Buluggiu A, Costanzo S, Bricco L, Lerone M, et al. Dextrocardia in patients with Poland syndrome: phenotypic characterization provides insight into the pathogenesis. J Thorac Cardiovasc Surg 2010;139(5): 1177–82. [13] Atasoy HI, Yavuz T, Altunrende S, Guven M, Kilicgun A, Polat O, et al. A unique case of right-sided Poland syndrome with true dextrocardia and total situs inversus. Eur J Pediatr 2012;21:21.
Clinical Spotlight
A Rare Association of Pulmonary Hypertension and Dextrocardia with Poland Syndrome Jwalant Raval, MBBS ∗ , Vinayak Nagaraja, MBBS, David Burgess, PhD, FRACP, Suzanne Eshoo, PhD, FRACP, Norman Sadick, PhD, FRACP and A. Robert Denniss, MD, MSc, FRACP Department of Cardiology, Blacktown Hospital, Australia
Poland syndrome is a rare congenital abnormality with an estimated incidence of 1 in 20,000 to 1 in 30,000 live births. We report and discuss this rare combination of pulmonary hypertension and dextrocardia with Poland syndrome. This case report also highlights the underlying pathogenetic mechanisms during foetal development and the potential to misdiagnose cardiac ischaemia in a patient with an anatomic anomaly. (Heart, Lung and Circulation 2013;22:778–780) Crown Copyright © 2013 Published by Elsevier Inc. on behalf of Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). All rights reserved. Keywords. Poland syndrome; Dextrocardia; Pulmonary hypertension
Introduction
Case Report
P
A 61 year-old Caucasian man presented to the Emergency Department with sudden onset of central chest pain. This was non-exertional, non-diaphoretic, non-pleuritic and improved with aspirin and nitrates. He had a background history of type 2 diabetes, hypertension, and hyperlipidaemia. The patient was known to have dextrocardia. He was not taking any medications, was unemployed and was suffering from anxiety. There was no family history of Poland syndrome. On examination, pulse was 100 beats per minute and blood pressure was 149/93 mm Hg. He had rib defects on the left chest, with the left nipple higher than the right nipple (Photograph 1). A right-sided electrocardiogram (ECG) revealed sinus tachycardia and T wave inversion in the anterolateral leads. An ECG taken about two years ago did not show any T wave inversion. Chest X-ray showed dextrocardia with a left-sided aortic knuckle and a left-sided gastric bubble (Fig. 1). Serial high sensitivity troponins were elevated to 24 and 40 ng/l. He continued to have intermittent chest pain at rest. There was no further evolution of the ECG changes, but in light of the ECG changes on this admission being new, and the troponin rise, he underwent coronary angiography via the right radial approach. He did not have any significant obstructive coronary artery disease and aortogram showed the left sided aortic arch. He also had brachydactyly of the left hand and a hypoplastic left upper extremity (Photograph 2). A right heart study at the same time showed pulmonary artery pressure of
oland syndrome is a rare congenital abnormality with an estimated incidence of 1 in 20,000 to 1 in 30,000 live births [1]. The genetics of Poland syndrome indicates that a sporadic mutation occurs without a clear inheritance pattern. It is characterised by unilateral aplasia/hypoplasia of the pectoralis major and ipsilateral deformities in the extremities. The syndrome is believed to be caused by a brief interruption or reduction in circulation of the subclavian and vertebral arteries or their smaller branches during the first six weeks of embryonic development [2]. A three to one male predominance is typically seen [3] and three-quarters of cases involve the right hemithorax and upper extremity [4]. The association of dextrocardia with left sided Poland syndrome is very rare, with only 23 cases thus far described in the literature [1,4–9]. A handful of those cases have involved rib defects and pain on the left side and one reported right sided chest pain [10]. We report and discuss this rare combination of dextrocardia and pulmonary hypertension with Poland syndrome. As far as we know so far only one case has been reported with the Poland syndrome and pulmonary hypertension [11]. This case report also highlights the underlying pathogenetic mechanisms during foetal development and the potential to misdiagnose cardiac ischaemia in a patient with an anatomic anomaly. Received 24 November 2012; received in revised form 18 February 2013; accepted 21 March 2013; available online 18 April 2013 ∗ Corresponding author. Tel.: +61 0298818000. E-mail address: jwalant [email protected] (J. Raval).
Crown Copyright © 2013 Published by Elsevier Inc. on behalf of Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). All rights reserved.
1443-9506/04/$36.00 http://dx.doi.org/10.1016/j.hlc.2013.03.076
Raval et al. Association of Pulmonary Hypertension and Dextrocardia with Poland Syndrome
779
Figure 1. Chest X-ray showing dextrocardia with a left-sided aortic knuckle and a left-sided gastric bubble.
61 mm Hg. The pulmonary artery wedge pressure was not able to be measured due to technical problems in reaching the pulmonary artery (eventually achieved with a multipurpose catheter), and patient discomfort and movement. Interestingly, his echocardiogram did not show any significant tricuspid regurgitation and pulmonary pressure could not be measured. He then underwent CT pulmonary angiogram (CTPA) to exclude pulmonary embolism. CTPA
Photograph 1. Left nipple higher than the right nipple.
did not show pulmonary embolism but demonstrated an asymmetrical thorax with the left upper thorax much smaller compared to the right and the absence of pectoralis major on the left (Fig. 2). BNP levels were not assayed as there were no symptoms or signs of heart failure. Cardiac magnetic resonance imaging (MRI) confirmed
Figure 2. CT pulmonary angiogram showing missing ribs and hypoplastic lung on left side.
Figure 3. Cardiac MRI demonstrating shift of the cardiac axis to the right side, consistent with dextrocardia. The aortic arch remains left-sided.
Photograph 2. Brachydactyly of the left hand and a hypoplastic left upper extremity.
CLINICAL SPOTLIGHT
Heart, Lung and Circulation 2013;22:778–780
CLINICAL SPOTLIGHT
780
Raval et al. Association of Pulmonary Hypertension and Dextrocardia with Poland Syndrome
dextrocardia, normal origin of the great vessels, normal left and right ventricular size and contractility at rest and moderate left ventricular hypertrophy (Fig. 3). Delayed hyperenhancement cardiac MRI did not show any evidence of myocardial infarction.
Discussion An Italian case series [12] of 122 patients suggested mechanical factors during embryonic life could explain the strong association between left-sided Poland syndrome and dextrocardia. According to their hypothesis, partial agenesis of two or more ribs is needed to displace the heart towards the right side. Atasoy et al. [13] found a homozygote A1298C MTHFR, heterozygote Factor V H1299R, and Factor II G20210A mutations in the thrombophilia genes, which might be the cause of malformations resulting from thrombosed microvasculature in the foetus during the first half of gestation when chondrification of the posterior arch of atlas occurs. A thrombolytic screen was not performed in this patient as there had not been any clinically evident thrombotic process previously. This case illustrates the potential to misdiagnose cardiac ischaemia in a patient with an anatomic anomalies and atypical chest pain, even when there is a small rise in troponin. It also demonstrates that patients with dextrocardia can undergo coronary angiography via the right radial route. Although microvascular dysfunction remains a possibility in this patient, the ECG changes did not evolve, and may have been related to the moderate left ventricular hypertrophy. The chest pain was thought to be musculoskeletal in origin at discharge. A precise cause for the small troponin leak was not established. The patient was referred to a respiratory physician to have formal pulmonary function tests as his pulmonary hypertension could be secondary to restrictive lung disease. Unfortunately, the patient declined to have the pulmonary function tests.
Heart, Lung and Circulation 2013;22:778–780
References [1] Cordero Garcia C, Nieto Castilla A, Lopez Jimenez E, Amores Garcia I. Dextrocardia associated with leftsided Poland syndrome. Am J Phys Med Rehabil 2009; 88(2):168. [2] Moir CR, Johnson CH. Poland’s syndrome. Semin Pediatr Surg 2008;17(3):161–6. [3] Lord MJ, Laurenzano KR, Hartmann Jr RW. Poland’s syndrome. Clin Pediatr 1990;29(10):606–9. [4] Ferraro GA, Perrotta A, Rossano F, D’Andrea F. Poland syndrome: description of an atypical variant. Aesthetic Plast Surg 2005;29(1):32–3. [5] Lacorte D, Marsella M, Guerrini P. A case of Poland syndrome associated with dextroposition. Ital J Pediatr 2010;36: 21. [6] Mutlu H, Sildiroglu O, Basekim CC, Kizilkaya E. A variant of Poland syndrome associated with dextroposition. J Thorac Imaging 2007;22(4):341–2. [7] Fraser FC, Teebi AS, Walsh S, Pinsky L. Poland sequence with dextrocardia: which comes first? Am J Med Genet 1997;73(2):194–6. [8] Sepulveda W. Poland syndrome: a rare cause of cardiac dextroposition in the fetus. Prenat Diagn 2009;29(9):903–5. [9] Lee SH, Kim JB, Park NH, Keum DY, Kim YH. Rare combination of dextrocardia with right-sided Poland syndrome. Ann Thorac Surg 2012;94(4):106. [10] Kim SJ, Morelli R. Right-sided chest pain in Poland syndrome. N Z Med J 2011;124(1341):65–8. [11] Kabukcu HK, Sahin N, Kanevetci BN, Titiz TA, Bayezid O. Anaesthetic management of patient with Poland syndrome and rheumatic mitral valve stenosis: a case report. Ann Card Anaesth 2005;8(2):145–7. [12] Torre M, Baban A, Buluggiu A, Costanzo S, Bricco L, Lerone M, et al. Dextrocardia in patients with Poland syndrome: phenotypic characterization provides insight into the pathogenesis. J Thorac Cardiovasc Surg 2010;139(5): 1177–82. [13] Atasoy HI, Yavuz T, Altunrende S, Guven M, Kilicgun A, Polat O, et al. A unique case of right-sided Poland syndrome with true dextrocardia and total situs inversus. Eur J Pediatr 2012;21:21.