Transposition of the great arteries differential diagnosis

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Dextro-transposition of the great arteries
L-transposition of the great arteries

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Priyamvada Singh, M.B.B.S. [2]; Cafer Zorkun, M.D., Ph.D. [3]; Keri Shafer, M.D. [4]; Assistant Editor(s)-In-Chief: Kristin Feeney, B.S. [5]

Overview

Patients with transposition of the great vessels should be differentiated from other cardiac and non-cardiac causes of cyanosis.

Differentiating Transposition of the great vessels from other Diseases

Patients with transposition of the great vessels should be differentiated from other cardiac and non-cardiac causes of cyanosis-

Cardiac causes (starts with 't')-

  • Tetralogy of Fallot
  • Truncus arteriosus
  • Total anomalous pulmonary venous connection
  • Tricuspid valve abnormalities

Other less common causes are- pulmonary atresia, hypoplastic left heart syndrome, anomalous systemic venous connection.

Non-cardiac causes

  • Pulmonary diseases - Structural abnormalities of the lung, V/P (ventilation-perfusion mismatch), airway obstruction, pneumothorax, and hypoventilation.
  • Abnormal hemoglobin like methemoglobin, polycythemia
  • Peripheral cyanosis for e.g. sepsis, hypoglycemia, dehydration, and hypoadrenalism.

Transposition of the great arteries should be differentiated from other cyanotic congenital heart diseases found in the pediatrics population. These disorders described in the table below:

Disorders Etiology Clinical Presentation Laboratory Findings Electrocardiogram Findings Echocardiography Findings X-Ray Findings
Tetralogy of Fallot [1][2] Multifactorial Echocardiography may show:
  • Residual VSD or ASD
  • RV outflow tract obstruction
  • Abnormal valvular anatomy
  • The boot-shaped heart appearance
  • Normal heart size
  • Pulmonary vascular marking may be normal or decreased
Total Anomalous Pulmonary Venous Connection [3][4][5] Multifactorial
  • Prominence of the pulmonary arteries
  • Mild enlargement of heart
  • The classic snowman sign is seen in supracardiac subtype
Tricuspid Atresia [6][7] Multifactorial
  • Respiratory difficulties as nasal flaring or muscle retractions
  • Cyanosis
  • Growth retradation
  • Tall P waves indicate atrial enlargement.
  • Frontal plane QRS axis may be leftward.
Echocardiography may show
Transposition of the Great Arteries [8][9] Multifactorial Echocardiography may show:
  • The classic egg on string appearance
  • Pulmonary vascular marking may be normal or increased

References

  1. Morris, Douglas C.; Felner, Joel M.; Schlant, Robert C.; Franch, Robert H. (1975). "Echocardiographic diagnosis of tetralogy of Fallot". The American Journal of Cardiology. 36 (7): 908–913. doi:10.1016/0002-9149(75)90081-8. ISSN 0002-9149.
  2. Kothari SS (October 1992). "Mechanism of cyanotic spells in tetralogy of Fallot--the missing link?". Int. J. Cardiol. 37 (1): 1–5. doi:10.1016/0167-5273(92)90125-m. PMID 1428277.
  3. Zhang, Ziming; Zhang, Li; Xie, Feng; Wang, Bing; Sun, Zhengxing; Kong, Shuangshuang; Wang, Xinfang; Dong, Nianguo; Wang, Guohua; Lv, Qing; Li, Yuman; Li, Ling; Xie, Mingxing (2016). "Echocardiographic diagnosis of anomalous pulmonary venous connections". Medicine. 95 (44): e5389. doi:10.1097/MD.0000000000005389. ISSN 0025-7974.
  4. Chen JT (October 1979). "Radiologic demonstration of anomalous pulmonary venous connection and its clinical significance". CRC Crit Rev Diagn Imaging. 11 (4): 383–422. PMID 389559.
  5. Gathman, Gary E.; Nadas, Alexander S. (1970). "Total Anomalous Pulmonary Venous Connection". Circulation. 42 (1): 143–154. doi:10.1161/01.CIR.42.1.143. ISSN 0009-7322.
  6. Beppu, S; Nimura, Y; Tamai, M; Nagata, S; Matsuo, H; Kawashima, Y; Kozuka, T; Sakakibara, H (1978). "Two-dimensional echocardiography in diagnosing tricuspid atresia. Differentiation from other hypoplastic right heart syndromes and common atrioventricular canal". Heart. 40 (10): 1174–1183. doi:10.1136/hrt.40.10.1174. ISSN 1355-6037.
  7. Thiene G, Anderson RH (1981). "The clinical morphology of tricuspid atresia. Atresia of the right atrioventricular valve". G Ital Cardiol. 11 (12): 1845–59. PMID 7049815.
  8. Mahle, William T.; Gonzalez, Javier H.; Kreeger, Joseph; Marx, Gerald; Duldani, Gul; Silverman, Norman H. (2013). "Echocardiography of transposition of the great arteries". Cardiology in the Young. 22 (6): 664–670. doi:10.1017/S1047951112001503. ISSN 1047-9511.
  9. Warnes, Carole A. (2006). "Transposition of the Great Arteries". Circulation. 114 (24): 2699–2709. doi:10.1161/CIRCULATIONAHA.105.592352. ISSN 0009-7322.



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