Ninety patients with atresia of the right atrioventricular orifice were examined. Their ages ranged from 3.5 to 24 years (9.9 +/- 0.5 years on the average). Stenosis of the pulmonary artery was found in 86 patients and was absent in 4 patients. Various intraarterial anastomoses had been established previously in 46 patients with stenosis of the pulmonary artery. All the patients were subjected to angiocardiographic examination including angiocardiography from the right and left parts of the heart and from the great vessels. Several anatomical variants of atresia of the right atrioventricular orifice and concomitant anomalies were studied. The following program of roentgeno-surgical examination in this complex congenital heart disease was elaborated. 1. Catheterization of the right and left parts of the heart and the great vessels. 2. Angiocardiography: right atriography; left ventriculography in anteroposterior, lateral, and, if indicated, axial views; aortography; pulmonary arteriography and, when indicated, right ventriculography.
Recent evidence suggests that periconceptional folic acid use could not only prevent neural tube defects but also other malformations. The objectives of this study were to assess trends in dispensed high dose periconceptional folic acid (5 mg) and birth prevalence of major congenital malformations.
The Quebec Pregnancy Registry, an administrative database with information on periconceptional prescribed medication and diagnostic codes was used to conduct this study. All pregnant women insured by the Quebec public drug plan between January 1(st) 1998 and December 31(st) 2008 were included. The exposure was defined as the use of high dose periconceptional folic acid 30 days before, and during the first 70 days of pregnancy. The outcome measured was the birth prevalence of major congenital malformations among live births.
We identified 152,392 pregnancies and babies. The annual prevalence of high dose periconceptional folic acid use increased from 0.17% to 0.80% (p
Centre for Chronic Disease Prevention, Public Health Agency of Canada, Room 405A2, AL 8604A, 785 Carling Ave, Ottawa, ON, Canada K1A 0K9. sliu@uottawa.ca
This study quantifies the association between maternal medical conditions/illnesses and congenital heart defects (CHDs) among infants.
We carried out a population-based study of all mother-infant pairs (n=2,278,838) in Canada (excluding Quebec) from 2002 to 2010 using data from the Canadian Institute for Health Information. CHDs among infants were classified phenotypically through a hierarchical grouping of International Statistical Classification of Diseases and Related Health Problems, 10th Revision, Canada codes. Maternal conditions such as multifetal pregnancy, diabetes mellitus, hypertension, and congenital heart disease were defined by use of diagnosis codes. The association between maternal conditions and CHDs and its subtypes was modeled using logistic regression with adjustment for maternal age, parity, residence, and other factors. There were 26 488 infants diagnosed with CHDs at birth or at rehospitalization in infancy; the overall CHD prevalence was 116.2 per 10,000 live births, of which the severe CHD rate was 22.3 per 10,000. Risk factors for CHD included maternal age =40 years (adjusted odds ratio [aOR], 1.48; 95% confidence interval [CI], 1.39-1.58), multifetal pregnancy (aOR, 4.53; 95% CI, 4.28-4.80), diabetes mellitus (type 1: aOR, 4.65; 95% CI, 4.13-5.24; type 2: aOR, 4.12; 95% CI, 3.69-4.60), hypertension (aOR, 1.81; 95% CI, 1.61-2.03), thyroid disorders (aOR, 1.45; 95% CI, 1.26-1.67), congenital heart disease (aOR, 9.92; 95% CI, 8.36-11.8), systemic connective tissue disorders (aOR, 3.01; 95% CI, 2.23-4.06), and epilepsy and mood disorders (aOR, 1.41; 95% CI, 1.16-1.72). Specific CHD subtypes were associated with different maternal risk factors.
Several chronic maternal medical conditions, including diabetes mellitus, hypertension, connective tissue disorders, and congenital heart disease, confer an increased risk of CHD in the offspring.
Notes
Comment In: Evid Based Med. 2014 Apr;19(2):e824282172
Birth defects in live-born infants were documented for 2 years in Jefferson County, Alabama (USA)--1986 and 1987--and in Uppsala County, Sweden--1985 and 1986. A total of 27,561 live births (9,179 white male, 8,728 white female, 4,883 black male, and 4,771 black female infants) occurred in Jefferson County; 6,896 live births (3,535 male and 3,361 female) were recorded in Uppsala County. These newborns were studied to establish a database of birth defects for the two small geographic areas and to study similarities and differences. Rates of hip dislocation, heart malformations, and clubfoot were high in Swedish infants. Similar frequencies of spina bifida and polydactyly were noted in Alabama whites and Swedish infants. Regional registries offer a systematic approach to detection of clustering of specific birth defects, identification of families for further study, location of patients with unique needs, and enhanced coordination of health services, including genetic counseling.
We aimed to assess cancer risk in congenital heart defect patients, with and without Down's syndrome, compared with the general population.
We identified all patients born and diagnosed with congenital heart defects from 1977 to 2008 using the Danish National Registry of Patients, covering all Danish hospitals. We compared cancer incidence in the congenital heart defect cohort with that expected in the general population (~5.5 million) using the Danish Cancer Registry, and computed age- and gender-standardised incidence ratios.
We identified 15,905 congenital heart defect patients, contributing a total of 151,172 person-years at risk; the maximum length of follow-up was 31 years (median 8 years). In all, 53 patients were diagnosed with cancer, including 30 female and 23 male patients (standardised incidence ratio = 1.63; 95% confidence interval: 1.22-2.13). Risks were increased for leukaemia, brain tumours, and basal cell carcinoma. After excluding 801 patients with Down's syndrome, the standardised incidence ratio was 1.19 (95% confidence interval: 0.84-1.64). In the subgroup of 5660 non-Down's syndrome patients undergoing cardiac surgery or catheter-based interventions, the standardised incidence ratio was 1.45 (95% confidence interval: 0.86-2.29).
The overall risk of cancer among congenital heart defect patients without Down's syndrome was not statistically significantly elevated. Cancer risk in the congenital heart defect cohort as a whole, including patients with Down's syndrome, was increased compared with the general population, although the absolute risk was low. Studies with longer follow-up and more information on radiation doses are needed to further examine a potential cancer risk associated with diagnostic radiation exposure.
To examine associations between birth defects and cancer from birth into adulthood.
Population based nested case-control study.
Nationwide health registries in Denmark, Finland, Norway, and Sweden.
62?295 cancer cases (0-46 years) and 724?542 frequency matched controls (matched on country and birth year), born between 1967 and 2014.
Relative risk of cancer in relation to major birth defects, estimated as odds ratios with 99% confidence intervals from logistic regression models.
Altogether, 3.5% (2160/62?295) of cases and 2.2% (15?826/724?542) of controls were born with major birth defects. The odds ratio of cancer for people with major birth defects compared with those without was 1.74 (99% confidence interval 1.63 to 1.84). For individuals with non-chromosomal birth defects, the odds ratio of cancer was 1.54 (1.44 to 1.64); for those with chromosomal anomalies, the odds ratio was 5.53 (4.67 to 6.54). Many structural birth defects were associated with later cancer in the same organ system or anatomical location, such as defects of the eye, nervous system, and urinary organs. The odds ratio of cancer increased with number of defects and decreased with age, for both non-chromosomal and chromosomal anomalies. The odds ratio of cancer in people with any non-chromosomal birth defect was lower in adults (=20 years: 1.21, 1.09 to 1.33) than in adolescents (15-19 years: 1.58, 1.31 to 1.90) and children (0-14 years: 2.03, 1.85 to 2.23). The relative overall cancer risk among adults with chromosomal anomalies was markedly reduced from 11.3 (9.35 to 13.8) in children to 1.50 (1.01 to 2.24). Among adults, skeletal dysplasia (odds ratio 3.54, 1.54 to 8.15), nervous system defects (1.76, 1.16 to 2.65), chromosomal anomalies (1.50, 1.01 to 2.24), genital organs defects (1.43, 1.14 to 1.78), and congenital heart defects (1.28, 1.02 to 1.59) were associated with overall cancer risk.
The increased risk of cancer in individuals with birth defects persisted into adulthood, both for non-chromosomal and chromosomal anomalies. Further studies on the molecular mechanisms involved are warranted.
To determine the spectrum of cardiac pathology and circumstances of death in infants with sudden unexpected death and to define the impact of sudden cardiac deaths to overall sudden infant death.
Retrospective analysis of all autopsies of infants with sudden death 7 days to 2 years of age between January 1987 and December 1999 in the province of Québec (Canada).
Eighty-two cases of sudden death with cardiac pathology were found, representing 10% of the total number of sudden infant deaths. A structural malformation was present in the majority of cases (54%); however, cardiac pathology in anatomically normal hearts was also common (46%). Most (64%) anatomic malformations were detected before death compared with 13% of nonstructural heart disease. Although a major proportion of children were found dead during sleep, a significant number were described as being awake at time of death (32%).
Heart disease is present in a significant percentage of autopsies of infants with sudden death. Structural heart malformations predominate, although nonstructural pathologic features of the heart are common and usually unrecognized before an autopsy is performed. Cardiac pathologic features are frequent when the child is witnessed to be awake at the time of sudden death.
