TABLE III.
Summary of the Literature Describing Congenital Diaphragmatic Hernia Associated With Cardiovascular Malformations*,**
| Author | Year | Type of study | CDH patients | CVMs among all CDH as published | CVMs among all CDH, revised | CVMs among nonsyndromic patientsa,b | Comments |
|---|---|---|---|---|---|---|---|
| Greenwood et al. | 1976 | Cardiology center Hospital medical records | Forty-eight Total Eleven with CVM |
11/48 (23%) | 6/48 (12%) excluding non-CVM | 6/43 (14%) 2/6 (33%) TOF 2/6 (33%) ASD, VSD |
Seminal article included one pericardial defect, one “compressive” IVC, two ectopia cordis Individual patients NS |
| Benjamin et al. | 1988 | Hospital records | One hundred and eight Seventy-three Died Autopsy 60/73 |
25/60 (42%) At autopsy 7/24 (28%) Conotruncal 3/25 (12%) Coarctation ASDs, VSD, NS Other artery and venous anomaly |
12% Conotruncal | Sixty-five isolated CDH. Could not calculate frequency of CVMs |
Detailed autopsy series NS how many had CVMs |
| Cuniff et al. | 1990 | Genetics center Hospital records |
One hundred and two Total Ninety-two Bochdalek or Morgagni Ten eventration |
18/102 (18%) | 15/102 (15%) | Could not calculate individual CVMs | Emphasis on associated malformations and patterns Included pulmonary artery hypoplasia/sequestration and pericardial defect |
| Sweed and Puri | 1993 | Hospital records Autopsy |
One hundred and sixteen Total | 16/40 (40%) | VSD 5/16 (31%) TOF, TGA 6/16 (38%) HLHS 2/16 (12%) |
16/33 (48%) Could not calculate individual CVMs |
Specified syndromes However, reported total cardiac anomalies instead of patients |
| Fauza and Wilson | 1994 | Surgical team Hospital record |
One hundred and sixty-six Total | “Anomaly” in 63% of patients At least 37 (22%) |
Syndromes NS Could not be calculated |
Data reported as total Cardiac anomalies rather than CHD per patient |
|
| Bollman et al. | 1995 | Prenatal diagnosis unit records | Forty-four Total Type NS |
17/44 (39%) | Could not be calculated | Could not be calculated | Analysis of associated malformations and chromosome defects Data reported as cardiac defects, not patients |
| Allan et al. | 1996 | Two prenatal diagnostic units. | Ninety-three Total Type NS |
14/93 (15%) 4/14 (29%) VSD 3/14 (31%) TOF 3/14 (31%) LVOTO 1/14 COA, 2/14 HLHS 1/14 VSD + PSV |
Could not be calculated | Could not be calculated | Expert fetal echocardiography diagnosis, but not all confirmed postnatally |
| Martinez-Frias et al. | 1996 | Population-based survey | Two hundred and ninety-seven Total Type NS |
29/297 (10%) | Could not be calculated | Extensive epidemiologic analyses | |
| Enns et al. | 1998 | Genetic and surgical centers Hospital records |
Sixty Total 16 with genetics evaluation | NS | 6/9 Excluded 1 PDA, 5/8 (62%) 2/5 (40%) conotruncal |
Excellent genetic analysis Difficult to analyze CVM patients |
|
| Losty et al. | 1998 | Surgical centers Autopsy records |
Three hundred and one Total: Two hundred and sixty left CDH Forty-one right CDH Two hundred and one (58) Isolated: 177/260 (68) Left CDH 24/41 (89) Right CDH |
28/301 (9%) Total 22/260 (8%) Left CDH 4/41 (10%) Right CDH |
27/97 (28%) Left CDH: 7/22 (32%) LVOTO 5/22 (23%) Conotruncal 5/22 (23%) ASD, VSD |
Could not be calculated | Emphasis on CDH and sidedness Only three patients with syndromes. Individual patients not listed |
| Migliazza et al. | 1999 | Surgery center | One hundred and thirty-six total | 33/136 (24%) | 25/128 (20%) 7/25 (28%) conotruncal 6/25 (24%) ASD, VSD 5/25 (20%) hypoplastic heart 2/25 (8%) COA+VSD 5/25 (20%)other | Could not be calculated | Discusses experimental work with nitrofen in mice, and human data |
| Dillon et al. | 2000 | Population-based Emphasis on prenatal. diagnosis | Two hundred and one total One hundred and eighty-seven CDH without eventration 139/201 (69%) Isolated 62/201 (31%) Multiple |
NS | 18/187 (10%) CDH only |
12/37 (32%) 2/12 (17%) conotruncal 3/12 (25%) LVOTO 4/12 (33%) Septal defects |
Individual patient data with CVM and syndromes. Ectopia/Pentalogy of Cantrell excluded |
| Witters et al. | 2001 | Genetics center Emphasis on prenatal diagnosis |
Forty-two total Left CDH | 6/42 (14%) | 4/32 (12%) 4/4 “mild VSD” |
Unusual CVM distribution, that is, four mild VSDs. | |
| Cohen et al. | 2002 | Fetal diagnosis and surgical center | One seventy-one total No eventration Only CDH |
31/171 (18%) | 30/171 (18%) 7/30 (23%) Conotruncal 8/30 (27%) Isolated arch obstruction, “HLHS” 11/30 (37%) VSD, One with arch obstruction |
Main cohort reported with”lethal anomalies excluded” | |
| Stege et al. | 2003 | Population-based Emphasis on outcome and mortality | One eighty-five total Types NS | 31/185 (17%) | 31/156 (20%) | Could not be calculated | No details about CVM, just the summary figure. |
| Dott et al. | 2003 | Population-based study | Two hundred and forty-nine total Including TOPs One hundered twenty-nine left Forty-three right Four bilateral |
37/249 (15%) | 37/157 (24%) Anomalies, not classified defects |
Entire case classified, but heart reported as anomalies, not classified as defect per patient | |
| Tonks et al. | 2004 | Population-based study Emphasis on survival, outcome | One sixty-one total One forty-five CDH Sixteen eventration |
25/161 (16%) | 14/129 (11%) | Could not be calculated | Includes all births, that is, LBs, stillbirths and TOPs. Table 6 presents data clearly Lacks details about CVM types. |
| Colvin et al. | 2005 | Population-based study Emphasis on survival, outcome | One hundred sixteen total All CDH |
18/116 (16%) | 18/99 (19%) | Could not be calculated | Includes all births, that is, LBs, stillbirths and TOPs |
| Graziano et al. | 2005 | 82 cardiology and surgical centers. Emphasis on prognosis. | Two thousand six hundred thirty-six total enrolled | 385/2636 (15%) Exclude isolated ASD, other minor CHDs: 280/2636 (11%) 118/280 (42%) septal 80/280 (29%) LVOTO 47/280 (17%) conotruncal |
No data about syndromes | ||
| Harmath et al. | 2006 | Prenatal diagnosis center | One hundred total pre- and postnatal diagnosis | 31/71 (44%) 5/31(16%) “complex” 5/31 (16%) “conotruncal” 5/31 (22%) right heart 9/31 (29%) “minor anomalies” |
28/71 (39%) excluding “minor” anomalies; 3/28 conotruncal (11%) | Syndrome data cannot be integrated into CVM calculations | Complex cohort analysis: Prenatal and postnatal data; 1990–97 versus 1998–2005 Increased CVMs in second half of study period. COA reported as conotruncal. |
Figures rounded. Selected figures listed based on both published and revised data. For example, the column “CVMs among all CDH, revised” listed the results of the analysis of specific CVM types, beyond information about overall CVM frequency discussed in the text of the article. It also included the analysis after excluding certain cardiac defects which did not meet our definition ofe CVM. The column “CVMs among nonsyndromic patients” reported CVM frequency data after removing patients with multiple defects or syndromes.
Cardiovascular “malformation” excludes isolated patent ductus arteriosus, dextrocardia/dextroposition, patent foramen ovale, functional anomalies (valve regurgitation, ventricular hypertrophy); cardiomyopathy, ectopia cordis/Pentalogy of Cantrell, inferior vena cava/pulmonary artery compression, pericardial defect.
Syndromes include chromosome and mendelian gene conditions. Nonsyndromic patients defined as isolated CDH, and CDH with associated malformations not known to be a syndrome.
Refer to Table II for comparison frequencies for the general population from the Baltimore-Washington Infant Study (syndromes included) [Ferencz et al., 1997] and the Emilia-Romagna Registry (syndromes excluded) [Calzolari et al., 2003].
CDH, congenital diaphragmatic hernia; COA, coarctation; CVM, cardiovascular malformation; HLHS, hypoplastic left heart syndrome; LB, liveborn; LVOTO, left ventricular outflow tract obstruction; NS, not specified or not stated; TOF, tetralogy of Fallot; TOP, termination of pregnancy; VSD, ventricular septal defect.