Literature DB >> 10377306

Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study.

C Tennstedt1, R Chaoui, H Körner, M Dietel.   

Abstract

OBJECTIVE: To analyse the spectrum of congenital heart malformations, the frequency of extracardiac malformations, and the proportion of chromosome aberrations among fetuses sent for necropsy. MATERIAL: Necropsies were performed on 815 fetuses-448 induced abortions (55%), 220 spontaneous abortions (27%), and 147 stillbirths (18%)-during a seven year period (1991-97) in the department of pathology of the Charité Medical Centre in Berlin. A congenital heart defect was identified in 129 cases (16%). For all 129 fetuses, karyotyping and an ultrasound examination had been performed.
RESULTS: Congenital heart defects were present in 22% of induced abortions (99 cases), 9% of spontaneous abortions (20 cases), and 7% of stillbirths (10 cases). The heart malformations were classified into 13 categories. A fetus with more than one defect was included only in the category of the most serious defect. The malformations in order of frequency were: ventricular septal defect (VSD) (28%), atrioventricular septal defect (AVSD) (16%), hypoplastic left heart (HLH) (16%), double outlet right ventricle (DORV) (12%), coarctation of the aorta (CoA) (6%), transposition of the great arteries (TGA) (4%), aortic valve stenosis (AoVS) (4%), tetralogy of Fallot (TOF) (3%), truncus arteriosus communis (TAC) (3%), pulmonary valve stenosis/pulmonary valve atresia (PaVS/PaVA) (3%), tricuspid atresia (TA) (3%), single ventricle (SV) (1.5%), and atrial septal defect (ASD) (0.5%). The most common congenital heart defects were VSD, AVSD, HLH, and DORV, which made up 72% of all the cases. In 11 cases the heart defect was isolated (no other cardiovascular or extracardiac malformations present), 85 cases (66%) were associated with additional cardiac malformations, 85 cases (66%) were associated with extracardiac malformations, and chromosome anomalies were detected in 43 cases (33%).
CONCLUSIONS: Fetal congenital heart malformations are common. These defects are often associated with other cardiovascular and extracardiac malformations, as well as with chromosome anomalies. Complex heart defects such as AVSD, HLH, and DORV are frequent in fetuses, as they often lead to spontaneous abortion or stillbirth or, after prenatal diagnosis, to deliberate termination of pregnancy.

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Mesh:

Year:  1999        PMID: 10377306      PMCID: PMC1729082          DOI: 10.1136/hrt.82.1.34

Source DB:  PubMed          Journal:  Heart        ISSN: 1355-6037            Impact factor:   5.994


  30 in total

1.  Extracardiac defects in children with congenital heart disease.

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Journal:  Br Heart J       Date:  1979-10

2.  The frequency of aneuploidy in prenatally diagnosed congenital heart disease: an indication for fetal karyotyping.

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Journal:  Am J Obstet Gynecol       Date:  1988-02       Impact factor: 8.661

3.  [Malformations of the heart and vascular system in autopsy material of children].

Authors:  A Tennstedt; M Gutermann; D Schreiber
Journal:  Zentralbl Allg Pathol       Date:  1983

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Authors:  J Goetzová; D Benesová
Journal:  Cesk Pediatr       Date:  1979-09

5.  Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11 deletion.

Authors:  K Momma; C Kondo; R Matsuoka
Journal:  J Am Coll Cardiol       Date:  1996-01       Impact factor: 24.094

6.  Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome.

Authors:  L H Seaver; J W Pierpont; R P Erickson; R L Donnerstein; S B Cassidy
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318

7.  Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.

Authors:  R Matsuoka; A Takao; M Kimura; S Imamura; C Kondo; K Joh-o; K Ikeda; M Nishibatake; M Ando; K Momma
Journal:  Am J Med Genet       Date:  1994-11-15

Review 8.  Genetic basis of DiGeorge and velocardiofacial syndromes.

Authors:  D A Driscoll
Journal:  Curr Opin Pediatr       Date:  1994-12       Impact factor: 2.856

9.  Chromosomal anomalies in fetal congenital heart disease.

Authors:  L D Allan; G K Sharland; S K Chita; S Lockhart; D J Maxwell
Journal:  Ultrasound Obstet Gynecol       Date:  1991-01-01       Impact factor: 7.299

10.  Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study.

Authors:  C Ferencz; J D Rubin; R J McCarter; J I Brenner; C A Neill; L W Perry; S I Hepner; J W Downing
Journal:  Am J Epidemiol       Date:  1985-01       Impact factor: 4.897

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  36 in total

1.  Critical congenital heart disease--utility of routine screening for chromosomal and other extracardiac malformations.

Authors:  Kimberly Baker; Joan Sanchez-de-Toledo; Ricardo Munoz; Richard Orr; Shareen Kiray; Dana Shiderly; Michele Clemens; Peter Wearden; Victor O Morell; Constantinos Chrysostomou
Journal:  Congenit Heart Dis       Date:  2011-11-09       Impact factor: 2.007

2.  Prenatal Aneuploidies Computerized Screening (SCA TEST): a pilot study on 1000 women.

Authors:  Alessandro Sacco; Claudio Coco; Lucia Mangiafico; Pietro Cignini; Alessandra Tiezzi; Claudio Giorlandino
Journal:  J Prenat Med       Date:  2007-10

3.  Truncus arteriosus communis in a midtrimester fetus: comparison of prenatal ultrasound and MRI with postmortem MRI and autopsy.

Authors:  Matthias R Mühler; Anett Rake; Michael Schwabe; Rabih Chaoui; Kay-Sven Heling; Christiane Planke; Alexander Lembcke; Thomas Fischer; Dietmar Kivelitz
Journal:  Eur Radiol       Date:  2004-10-06       Impact factor: 5.315

Review 4.  Congenital diaphragmatic hernia and associated cardiovascular malformations: type, frequency, and impact on management.

Authors:  Angela E Lin; Barbara R Pober; Ian Adatia
Journal:  Am J Med Genet C Semin Med Genet       Date:  2007-05-15       Impact factor: 3.908

5.  Incidences and sociodemographics of specific congenital heart diseases in the United States of America: an evaluation of hospital discharge diagnoses.

Authors:  Alexander Egbe; Santosh Uppu; Annemarie Stroustrup; Simon Lee; Deborah Ho; Shubhika Srivastava
Journal:  Pediatr Cardiol       Date:  2014-02-22       Impact factor: 1.655

6.  Perspectives on the potential involvement of the AH receptor-dioxin axis in cardiovascular disease.

Authors:  Alvaro Puga
Journal:  Toxicol Sci       Date:  2010-12-30       Impact factor: 4.849

7.  Observed prevalence of congenital heart defects from a surveillance study in China.

Authors:  Yali Zhang; Tiffany Riehle-Colarusso; Adolfo Correa; Song Li; Xinheng Feng; Jacqueline Gindler; Hui Lin; Catherine Webb; Wei Li; Jean Trines; Robert J Berry; Lorraine Yeung; Ying Luo; Meifang Jiang; Hua Chen; Xiamei Sun; Zhu Li
Journal:  J Ultrasound Med       Date:  2011-07       Impact factor: 2.153

Review 8.  Prenatal diagnosis and treatment planning of congenital heart defects-possibilities and limits.

Authors:  Mathias Nelle; Luigi Raio; Mladen Pavlovic; Thierry Carrel; Daniel Surbek; Matthias Meyer-Wittkopf
Journal:  World J Pediatr       Date:  2009-01-27       Impact factor: 2.764

9.  Recent trends in indications of fetal echocardiography and postnatal outcomes in fetuses diagnosed as congenital heart disease.

Authors:  Seulgi Cha; Gi Beom Kim; Bo Sang Kwon; Eun Jung Bae; Chung Il Noh; Hong Gook Lim; Woong Han Kim; Jeong Ryul Lee; Yong Jin Kim; Jung Yun Choi
Journal:  Korean Circ J       Date:  2012-12-31       Impact factor: 3.243

10.  Chromosomal anomalies influence parental treatment decisions in relation to prenatally diagnosed congenital heart disease.

Authors:  Sinai C Zyblewski; Elizabeth G Hill; Girish Shirali; Andrew Atz; Geoffrey Forbus; Javier Gonzalez; Anthony Hlavacek
Journal:  Pediatr Cardiol       Date:  2009-08-25       Impact factor: 1.655

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