What is A CHD

Congenital heart defect

From Wikipedia, the free encyclopedia

Congenital heart defect (CHD) or congenital heart anomaly[2] is a defect in the structure of the heart and great vessels which is present at birth. Many types of heart defects exist, most of which either obstruct blood flow in the heart or vessels near it, or cause blood to flow through the heart in an abnormal pattern. Other defects, such as long QT syndrome, affect the heart’s rhythm. Heart defects are among the most common birth defects and are the leading cause of birth defect-related deaths. Approximately 9 people in 1000 are born with a congenital heart defect.[3] Many defects don’t need treatment, but some complex congenital heart defects require medication or surgery.

Signs and symptoms

Signs and symptoms are related to the type and severity of the heart defect. Symptoms frequently present early in life, but it’s possible for some CHDs to go undetected throughout life.[4] Some children have no signs while others may exhibit shortness of breath, cyanosis, syncope,[5] heart murmur, under-developing of limbs and muscles, poor feeding or growth, or respiratory infections. Congenital heart defects cause abnormal heart structure resulting in production of certain sounds called heart murmur. These can sometimes be detected by auscultation; however, not all heart murmurs are caused by congenital heart defects.

Cyanotic heart defect

From Wikipedia, the free encyclopedia

A cyanotic heart defect is a group-type of congenital heart defects (CHDs). The patient appears blue (cyanotic), due to deoxygenated blood bypassing the lungs and entering the systemic circulation. This can be caused by right-to-left or bidirectional shunting, or malposition of the great arteries.

Hypoplastic left heart syndrome


Many congenital heart defects can be diagnosed prenatally by fetal echocardiography. This is a test which can be done during the second trimester of pregnancy, when the woman is about 18–24 weeks pregnant.[29][30] It can be an abdominal ultrasound or transvaginal ultrasound.

If a baby is born with cyanotic heart disease, the diagnosis is usually made shortly after birth due to the blue colour of their skin (called cyanosis).[30]

If a baby is born with a septal defect or an obstruction defect, often their symptoms are only noticeable after several months or sometimes even after many years.[30]





Sometimes CHD improves without treatment. Other defects are so small that they do not require any treatment. Most of the time CHD is serious and requires surgery and/or medications. Medications include diuretics, which aid the body in eliminating water, salts, and digoxin for strengthening the contraction of the heart. This slows the heartbeat and removes some fluid from tissues. Some defects require surgical procedures to restore circulation back to normal and in some cases, multiple surgeries are needed.

Interventional cardiology now offers patients minimally invasive alternatives to surgery for some patients. The Melody Transcatheter Pulmonary Valve (TPV), approved in Europe in 2006 and in the U.S. in 2010 under a Humanitarian Device Exemption (HDE), is designed to treat congenital heart disease patients with a dysfunctional conduit in their right ventricular outflow tract (RVOT). The RVOT is the connection between the heart and lungs; once blood reaches the lungs, it is enriched with oxygen before being pumped to the rest of the body. Transcatheter pulmonary valve technology provides a less-invasive means to extend the life of a failed RVOT conduit and is designed to allow physicians to deliver a replacement pulmonary valve via a catheter through the patient’s blood vessels.

Most patients require lifelong specialized cardiac care, first with a pediatric cardiologist and later with an adult congenital cardiologist. There are more than 1.8 million adults living with congenital heart defects.[31]



Congenital heart defects resulted in about 223,000 deaths globally in 2010 down from 278,000 deaths in 1990.[2]

See also


  1. ^ Hoffman JI, Kaplan S (June 2002). “The incidence of congenital heart disease”. J. Am. Coll. Cardiol. 39 (12): 1890–900. doi:10.1016/S0735-1097(02)01886-7. PMID 12084585.
  2. ^ a b Lozano, R (2012 Dec 15). “Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010.”. Lancet 380 (9859): 2095–128. PMID 23245604.
  3. ^ “Congenital Heart Defects in Children Fact Sheet”. American Heart. Retrieved 30 July 2010.
  4. ^ “Heart Defects: Birth Defects”. Merck. Retrieved 30 July 2010.
  5. ^ “National Heart, Lung, and Blood Institute”. Retrieved 30 July 2010.
  6. ^ Joseph’s Story Blog Entry Pulse Oximetry Screening
  7. ^ a b Hoffman, J. (2005). Essential Cardiology: Principles and Practice. Totowa, NJ: Humana Press. p. 393. ISBN 1-58829-370-X.
  8. ^ a b c d Schoen, Frederick J.; Richard N., Mitchell (2010). “12. The Heart”. In Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson et al. Robbins and Cotran Pathologic Basis of Disease (8th ed.). Saunders Elsevier. ISBN 978-1-4160-3121-5. |displayeditors= suggested (help)
  9. ^ Thienpont B, Mertens L, de Ravel T, et al. (November 2007). “Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients”. Eur. Heart J. 28 (22): 2778–84. doi:10.1093/eurheartj/ehl560. PMID 17384091.
  10. ^ a b c Srivastava, D. (2006). “Making or breaking the heart: from lineage determination to morphogenesis”. Cell 126 (6): 1037–1048. doi:10.1016/j.cell.2006.09.003. PMID 16990131. edit
  11. ^ Jones, Kenneth Lyons (1997). Smith’s recognizable patterns of human malformation (5th ed.). W.B. Saunders. pp. 316–317, 616–617. ISBN 0-7216-6115-7.
  12. ^ Niessen, K.; Karsan, A. (2008). “Notch Signaling in Cardiac Development”. Circulation Research 102 (10): 1169–1181. doi:10.1161/CIRCRESAHA.108.174318. PMID 18497317. edit
  13. ^ Spinner, N.; Hutchinson, A.; Krantz, I.; Kamath, B.; Pagon, R.; Bird, T.; Dolan, C.; Stephens, K. (20 July 2010). Alagille Syndrome. GeneReviews. PMID 20301450. edit
  14. ^ Tidyman, W. E.; Rauen, K. A. (2009). “The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation”. Current Opinion in Genetics & Development 19 (3): 230. doi:10.1016/j.gde.2009.04.001. PMC 2743116. PMID 19467855. edit
  15. ^ “Factors Contributing to Congenital Heart Disease”. Lucile Packard Children’s Hospital at Stanford. Retrieved 30 July 2010.
  16. ^ a b c Mills JL, Troendle J, Conley MR, Carter T, Druschel CM (June 2010). “Maternal obesity and congenital heart defects: a population-based study”. Am. J. Clin. Nutr. 91 (6): 1543–9. doi:10.3945/ajcn.2009.28865. PMC 2869507. PMID 20375192.
  17. ^ a b Gilboa SM, Correa A, Botto LD, et al. (January 2010). “Association between prepregnancy body mass index and congenital heart defects”. Am. J. Obstet. Gynecol. 202 (1): 51.e1–e10. doi:10.1016/j.ajog.2009.08.005. PMID 19796755.
  18. ^ a b Watkins And ML, Botto LD (July 2001). “Maternal Prepregnancy Weight and Congenital Heart Defects in the Offspring”. Epidemiology 11 (4): 439–446. PMID 11416768.
  19. ^ Rasmussen SA, Galuska DA (June 2010). “Prepregnancy obesity and birth defects: what’s next?”. Am. J. Clin. Nutr. 91 (6): 1539–40. doi:10.3945/ajcn.2010.29666. PMID 20427732.
  20. ^ a b c d Larsen, William J. (1993). “7. Development of the Heart”. Human Embryology. Churchill Livingstone. ISBN 0-443-08724-5.
  21. ^ Rokitarisky K. E. (1875) Die defecte der Scheidewande des Herzens. Wien.
  22. ^ Spitzer A. (1923) Arch. Pathol. Anat. 243, 81–272.
  23. ^ Krimski L. D. (1963) Pathological anatomy of congenital heart defects and complications after their surgical treatment. M., Medicine.
  24. ^ Thomas P. Shanley; Derek S. Wheeler; Hector R. Wong (2007). Pediatric critical care medicine: basic science and clinical evidence. Berlin: Springer. p. 666. ISBN 1-84628-463-5.
  25. ^ “Hypoplastic Left Heart Syndrome”. American Heart. Retrieved 30 July 2010.
  26. ^ a b c “Congenital Cardiovascular Defects”. American Heart. Retrieved 30 July 2010.
  27. ^ “Ventricular Septal Defect”. eMedicine Health. Retrieved 30 July 2010.
  28. ^ “Circulatory Changes at Birth”. University of California at Berkeley. Retrieved 30 July 2010.
  29. ^ MedlinePlus Encyclopedia Fetal echocardiography
  30. ^ a b c http://www.nhs.uk/Conditions/Congenital-heart-disease/Pages/Diagnosis.aspx
  31. ^ “Adult Congenital Heart Association”. Adult Congenital Heart Association. Retrieved 30 July 2010.

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