bims-hylehe 2019-06-23 papers

Issue of 2019‒06‒23
three papers selected by
Richard James
University of Pennsylvania

Congenit Heart Dis. 2019 Jun 21.

Three year experience of a clinical cardiovascular genetics program for infants with congenital heart disease.

OBJECTIVE: To describe the first 3 years of experience of having an inpatient "cardiogenetics" program which involves medical geneticist assessment of infants with major congenital heart disease (CHD) requiring surgical intervention in the first year of life.PATIENTS: Patients less than a year of age admitted to Children's Hospital of Wisconsin's Herma Heart Institute for surgical intervention for CHD seen by the cardiogenetics program. Patients with major trisomies (13, 18, and 21) were excluded.
OUTCOME MEASURES: Utilization and yield of genetic testing, and diagnostic rate were assessed as outcome measures and compared to a baseline time period and a genetic testing protocol time period.
RESULTS: There were 201 infants with CHD evaluated by the cardiogenetics program over 3 years. A total of patients 46 patients of the 196 who underwent genetic testing had multiple tests completed. This is a significant decrease from the baseline (247/329, P < .0001) and from the genetic testing protocol (29/81, P < .0387) time periods. The diagnostic rate was 33% which is significantly increased compared to the baseline rate of 15% (80/524, P < .0001) and trends toward a significant increase during the testing protocol rate (25/113, P = .0520). The number of dual diagnosis increased to 9 of 201 compared to the baseline (2/524) and the genetic testing protocol (1/113) time periods. The rate of incidental diagnoses altering care increased to 6 of 201 from the baseline (1/524) and the genetic testing protocol (1/113) time periods.
CONCLUSION: An inpatient cardiogenetics program significantly increases the diagnostic rate, the detection of complex phenotypes with dual diagnoses, the identification of incidental genetic diagnoses associated with changes in care, and significantly decreases the likelihood of multiple tests being completed on an individual patient. Increased medical geneticist involvement in programs that care for infants with CHD should be encouraged to improve patient care and genetic testing utilization.

Keywords: cardiovascular genetics; congenital heart disease; genetic testing

DOI: https://doi.org/10.1111/chd.12817

Congenit Heart Dis. 2019 Jun 17.

Secular trends in pregnancy rates, delivery outcomes, and related health care utilization among women with congenital heart disease.

Bottega N, Malhamé I, Guo L, Ionescu-Ittu R, Therrien J, Marelli A.

BACKGROUND: The number of women with congenital heart disease (CHD) of reproductive age is increasing, yet a description of trends in pregnancy and delivery outcomes in this population is lacking.OBJECTIVE: To assess secular trends in pregnancy rates, delivery outcomes, and related health care utilization in the adult female CHD population in Quebec, Canada.
METHODS: The Quebec CHD database was used to construct a cohort with all women with CHD aged 18-45 years between 1992 and 2004. Pregnancy and delivery rates were determined yearly and compared to the general population. Secular trends in pregnancy and delivery rates were assessed with linear regression. The cesarean delivery rate in the CHD population was compared to the general population. Predictors of cesarean section were determined with multivariable logistic regression. Cox regression, adjusted for comorbidities, was used to analyze the impact of cesarean sections on 1-year health care use following delivery.
RESULTS: About 14 878 women were included. A total of 10 809 pregnancies were identified in 5641 women, of whom 4551 (80%) and 2528 (45%) experienced at least one delivery and/or abortion, respectively. Absolute yearly numbers and rates of pregnancies and deliveries increased during the study period (P < .05). The increment in cesarean section rates was more pronounced among women with CHD than among the general population. Gestational diabetes (OR 1.50, 95% CI [1.13, 1.99]), gestational hypertension (OR 1.81, 95% CI [1.27, 2.57]), and preeclampsia (OR 1.59, 95% CI [1.11, 2.8]) were independent predictors of cesarean delivery. Cesarean sections were associated with postpartum cardiac-hospitalization within 1 year following delivery (HR = 2.35, 95% CI [1.05, 5.28]).
CONCLUSIONS: Yearly numbers and rates of pregnancies and deliveries in adult females with CHD rose significantly during the study period. Cesarean sections led to increased health care utilization. Further research is required to determine causes of high cesarean section rates in this patient population.

Keywords: adult congenital heart disease; delivery; pregnancy; women’s health

DOI: https://doi.org/10.1111/chd.12811

Arch Dis Child. 2019 Jun 21. pii: archdischild-2019-316788. [Epub ahead of print]

Milestones in paediatric cardiology: the first therapeutic cardiac catheterisations.

Mazurak M, Kusa J.

Keywords: cardiac catheterization; congenital heart defect; history of pediatrics

DOI: https://doi.org/10.1136/archdischild-2019-316788