CLINICAL STUDY
Patterns of recurrence of congenital heart disease
An analysis of 6,640 consecutive pregnancies evaluated by detailed fetal echocardiography
Harinder K. Gill, MSc, MRCP*,
Miranda Splitt, MD, MRCP*,
Gurleen K. Sharland, MD, FRCP and
John M. Simpson, MD, MRCP,*
* Department of Clinical Genetics, Guys and St. Thomas Hospitals, London, United Kingdom
Fetal Cardiology Unit, Department of Congenital Heart Disease, Guy’s and St. Thomas’ Hospitals Trust, London, United Kingdom
Manuscript received September 6, 2002;
revised manuscript received March 11, 2003,
accepted May 21, 2003.
* Reprint requests and correspondence: Dr. John M. Simpson, Consultant in Fetal and Paediatric Cardiology, Fetal Cardiology Unit, 15th Floor, Guy's Hospital, London, United Kingdom SE1 9RT.
John.Simpson{at}gstt.sthames.nhs.uk
OBJECTIVES: We sought to investigate the pattern of recurrence of congenital heart disease (CHD) where there is one or more affected first-degree relative.
BACKGROUND: There are little data on patterns of recurrence of different types of CHD. Analysis of a fetal series allows a high ascertainment of affected cases.
METHODS: We performed an analysis of referrals for detailed fetal echocardiography to a tertiary fetal cardiology unit, where there was a first-degree family history of CHD from 1990 to the end of 1999. Data were entered prospectively on a computerized database. Recurrences were exactly concordant if CHD was identical to the index case, and concordant for the group if belonging to a similar group of CHD.
RESULTS: A recurrence of CHD was seen in 178 (2.7%) of 6,640 pregnancies. The referral numbers for sibling, maternal, or paternal CHD cases were 5,151, 1,119, and 370, respectively. Exact concordance was seen in 37% of cases (range 0% to 80%), and group concordance was seen in 44%. In families where there were two or more recurrences, the exact concordance rate was 55%. Exact concordance rates were particularly high for isolated atrioventricular septal defects (4 of 5 [80%]) and laterality defects (7 of 11 [64%]).
CONCLUSIONS: The concordance rates of different types of CHD vary widely. Accurate diagnosis of the index case is essential for reliable counseling on patterns of recurrence. Minor CHD in the index case does not exclude more severe disease in recurrences. There appears to be significant under-referral for fetal echocardiography in paternal CHD.
|
Abbreviations and Acronyms
| | AVSD | = atrioventricular septal defect | | CAT | = common arterial trunk | | CHD | = congenital heart disease | | CI | = confidence interval | | CoA | = coarctation of the aorta | | HLH | = hypoplastic left heart | | PA/IVS | = pulmonary atresia with intact ventricular septum | | PS | = pulmonary stenosis | | TGA | = transposition of the great arteries | | TOF | = tetralogy of Fallot | | VSD | = ventricular septal defect |
|
This article has been cited by other articles:
|
|
|
|
 
M. Thangaroopan, R. M. Wald, C. K. Silversides, J. Mason, J. F. Smallhorn, M. Sermer, J. M. Colman, and S. C. Siu
Incremental Diagnostic Yield of Pediatric Cardiac Assessment After Fetal Echocardiography in the Offspring of Women With Congenital Heart Disease: A Prospective Study
Pediatrics,
March 1, 2008;
121(3):
e660 - e665.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
P. Khairy, N. Poirier, and L.-A. Mercier
Univentricular Heart
Circulation,
February 13, 2007;
115(6):
800 - 812.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
C E G Head, V C Jowett, G K Sharland, and J M Simpson
Timing of presentation and postnatal outcome of infants suspected of having coarctation of the aorta during fetal life
Heart,
August 1, 2005;
91(8):
1070 - 1074.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
C E G Head and S A Thorne
Congenital heart disease in pregnancy
Postgrad. Med. J.,
May 1, 2005;
81(955):
292 - 298.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
J. S. Child
Fallot's tetralogy and pregnancy: Prognostication and prophesy
J. Am. Coll. Cardiol.,
July 7, 2004;
44(1):
181 - 183.
[Full Text]
[PDF]
|
|
|
|
