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Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome.

Lee MY, Won HS, Baek JW, Cho JH, Shim JY, Lee PR, Kim A - Obstet Gynecol Sci (2014)

Bottom Line: Other cardiac defects were rarely associated with 22q11.2 deletion.Two fetuses had normal intracardiac anatomy with an isolated right aortic arch, and one had an isolated bilateral superior vena cava.Conotruncal cardiac defects except transposition of great arteries were strongly associated with 22q11.2 deletion.

View Article: PubMed Central - PubMed

Affiliation: Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.

ABSTRACT

Objective: To analyze the spectrum of prenatally diagnosed congenital heart disease in a Korean population with 22q11.2 deletion syndrome, and to provide guidelines for screening 22q11.2 deletion prenatally.

Methods: This retrospective study evaluated 1,137 consecutive fetuses that had prenatal genetic testing for 22q11.2 deletion because of suspected congenital heart disease between September 2002 and December 2012, at Asan Medical Center, Seoul, Korea.

Results: Main cardiovascular diseases in the 53 fetuses with confirmed 22q11.2 deletions were tetralogy of Fallot (n = 24, 45%), interrupted aortic arch (n = 10, 19%), ventricular septal defect (n = 5, 9%), double outlet right ventricle (n = 4, 8%), and coarctation of the aorta (n = 4, 8%). Other cardiac defects were rarely associated with 22q11.2 deletion. One fetus had persistent truncus arteriosus, one had aortic stenosis, and one had hypoplastic right heart syndrome. Two fetuses had normal intracardiac anatomy with an isolated right aortic arch, and one had an isolated bilateral superior vena cava.

Conclusion: A variety of congenital heart diseases were seen during the prenatal period. Conotruncal cardiac defects except transposition of great arteries were strongly associated with 22q11.2 deletion. When such anomalies are diagnosed by fetal echocardiography, genetic testing for 22q11.2 deletion should be offered. Even if less frequent deletion-related cardiac defects are detected, other related anomalies, such as thymic hypoplasia or aplasia, should be evaluated to rule out a 22q11.2 deletion.

No MeSH data available.


Related in: MedlinePlus

Prenatal ultrasonographic findings of absent pulmonary valve syndrome. (A) Marked dilatation of main (**) and branch (*) pulmonary arteries with a rudimentary pulmonary valve (black arrow). Right aortic arch was also noted (white arrow). (B-D) Color and pulsed wave Doppler ultrasound showed a typical to-and-fro pattern of pulmonary stenosis and regurgitation. Lt, left; Rt, right; RV, right ventricle.
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Figure 1: Prenatal ultrasonographic findings of absent pulmonary valve syndrome. (A) Marked dilatation of main (**) and branch (*) pulmonary arteries with a rudimentary pulmonary valve (black arrow). Right aortic arch was also noted (white arrow). (B-D) Color and pulsed wave Doppler ultrasound showed a typical to-and-fro pattern of pulmonary stenosis and regurgitation. Lt, left; Rt, right; RV, right ventricle.

Mentions: Almost half of the fetuses (24/53, 45%) showed TOF; simple TOF and TOF with major aorto-pulmonary collateral arteries (MAPCAs) being the most frequent. TOF was commonly associated with RAA (n=16, 67%). Three fetuses with absent pulmonary valve syndrome had severe dilatation of the main and branching pulmonary arteries that was associated with a RAA (Fig. 1). All of three fetuses were lost to follow-up after the diagnosis was made.


Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome.

Lee MY, Won HS, Baek JW, Cho JH, Shim JY, Lee PR, Kim A - Obstet Gynecol Sci (2014)

Prenatal ultrasonographic findings of absent pulmonary valve syndrome. (A) Marked dilatation of main (**) and branch (*) pulmonary arteries with a rudimentary pulmonary valve (black arrow). Right aortic arch was also noted (white arrow). (B-D) Color and pulsed wave Doppler ultrasound showed a typical to-and-fro pattern of pulmonary stenosis and regurgitation. Lt, left; Rt, right; RV, right ventricle.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3924741&req=5

Figure 1: Prenatal ultrasonographic findings of absent pulmonary valve syndrome. (A) Marked dilatation of main (**) and branch (*) pulmonary arteries with a rudimentary pulmonary valve (black arrow). Right aortic arch was also noted (white arrow). (B-D) Color and pulsed wave Doppler ultrasound showed a typical to-and-fro pattern of pulmonary stenosis and regurgitation. Lt, left; Rt, right; RV, right ventricle.
Mentions: Almost half of the fetuses (24/53, 45%) showed TOF; simple TOF and TOF with major aorto-pulmonary collateral arteries (MAPCAs) being the most frequent. TOF was commonly associated with RAA (n=16, 67%). Three fetuses with absent pulmonary valve syndrome had severe dilatation of the main and branching pulmonary arteries that was associated with a RAA (Fig. 1). All of three fetuses were lost to follow-up after the diagnosis was made.

Bottom Line: Other cardiac defects were rarely associated with 22q11.2 deletion.Two fetuses had normal intracardiac anatomy with an isolated right aortic arch, and one had an isolated bilateral superior vena cava.Conotruncal cardiac defects except transposition of great arteries were strongly associated with 22q11.2 deletion.

View Article: PubMed Central - PubMed

Affiliation: Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.

ABSTRACT

Objective: To analyze the spectrum of prenatally diagnosed congenital heart disease in a Korean population with 22q11.2 deletion syndrome, and to provide guidelines for screening 22q11.2 deletion prenatally.

Methods: This retrospective study evaluated 1,137 consecutive fetuses that had prenatal genetic testing for 22q11.2 deletion because of suspected congenital heart disease between September 2002 and December 2012, at Asan Medical Center, Seoul, Korea.

Results: Main cardiovascular diseases in the 53 fetuses with confirmed 22q11.2 deletions were tetralogy of Fallot (n = 24, 45%), interrupted aortic arch (n = 10, 19%), ventricular septal defect (n = 5, 9%), double outlet right ventricle (n = 4, 8%), and coarctation of the aorta (n = 4, 8%). Other cardiac defects were rarely associated with 22q11.2 deletion. One fetus had persistent truncus arteriosus, one had aortic stenosis, and one had hypoplastic right heart syndrome. Two fetuses had normal intracardiac anatomy with an isolated right aortic arch, and one had an isolated bilateral superior vena cava.

Conclusion: A variety of congenital heart diseases were seen during the prenatal period. Conotruncal cardiac defects except transposition of great arteries were strongly associated with 22q11.2 deletion. When such anomalies are diagnosed by fetal echocardiography, genetic testing for 22q11.2 deletion should be offered. Even if less frequent deletion-related cardiac defects are detected, other related anomalies, such as thymic hypoplasia or aplasia, should be evaluated to rule out a 22q11.2 deletion.

No MeSH data available.


Related in: MedlinePlus