Congenital cardiovascular anomalies
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Congenital cardiovascular anomalies are relatively common, with an incidence of up to 1% if small muscular ventricular septal defects (VSDs) are included. As a group, there is a much greater frequency in syndromic infants and in those that are stillborn.
In a large study in the UK, it was found that congenital heart anomalies were present in almost 1 in 100 live births (~80 in 10,000 births) 7.
Congenital cardiac anomalies can be found with many aneuploid conditions which include:
trisomy 18: up to 90% can have cardiac anomalies
trisomy 13: up to 90%
trisomy 21: up to 50%
Turner syndrome: up to 40%
Broadly, congenital cardiovascular anomalies can be clinically divided into:
Depending on the lesion and its severity, patients may be asymptomatic or conversely, may present with rapidly deteriorating congestive cardiac failure.
These anomalies as a group have a heterogeneous etiology with many resulting from an interplay between both genetic and environmental factors. An understanding of complex cardiac development is important in understanding the numerous possible abnormalities that can arise.
A list of anomalies and their approximate occurrences (as a percentage of all congenital cardiac anomalies) are given below:
tetralogy of Fallot (TOF): 7-10% 8
Ebstein anomaly: 0.7%
Bland-White-Garland syndrome: ~0.5%
cor triatriatum: ~0.1%
Gerbode defect: <1%
Shone complex: <1%
aortoventricular tunnel <0.1%
Other valvular anomalies
Percentages may not necessarily add up to 100 due to overlap and simultaneous occurrence of abnormalities.
- 1. Kumar V, Abbas AK, Fausto N. Robbins and Cotran Pathologic Basis of Disease, Professional Edition, Expert Consult - Online and Print. W.B. Saunders Company. (2009) ISBN:1437707920. Read it at Google Books - Find it at Amazon
- 2. Mitchell SC, Korones SB, Berendes HW. Congenital heart disease in 56,109 births. Incidence and natural history. Circulation. 1971;43 (3): 323-32. Circulation (abstract) - Pubmed citation
- 3. Barboza JM, Dajani NK, Glenn LG et-al. Prenatal diagnosis of congenital cardiac anomalies: a practical approach using two basic views. Radiographics. 22 (5): 1125-37. Radiographics (full text) - Pubmed citation
- 4. Dillman JR, Yarram SG, D'Amico AR et-al. Interrupted aortic arch: spectrum of MRI findings. AJR Am J Roentgenol. 2008;190 (6): 1467-74. doi:10.2214/AJR.07.3408 - Pubmed citation
- 5. Wiant A, Nyberg E, Gilkeson RC. CT evaluation of congenital heart disease in adults. AJR Am J Roentgenol. 2009;193 (2): 388-96. doi:10.2214/AJR.08.2192 - Pubmed citation
- 6. Rajiah P, Mak C, Dubinksy TJ, Dighe M. Ultrasound of fetal cardiac anomalies. (2011) AJR. American journal of roentgenology. 197 (4): W747-60. doi:10.2214/AJR.10.7287 - Pubmed
- 7. Dadvand P, Rankin J, Shirley MD, Rushton S, Pless-Mulloli T. Descriptive epidemiology of congenital heart disease in Northern England. (2009) Paediatric and perinatal epidemiology. 23 (1): 58-65. doi:10.1111/j.1365-3016.2008.00987.x - Pubmed
- 8. Report of the New England Regional Infant Cardiac Program. Pediatrics. 1980;65(2 Pt 2):375-461. - Pubmed