Early Diagnosis of Congenital Heart Disease: When and How to Treat

Neonatology ◽  
2018 ◽  
pp. 1-13
Author(s):  
Francesca R. Pluchinotta ◽  
Luciane Piazza ◽  
Angelo Micheletti ◽  
Javier Fernandez Sarabia ◽  
Diana Negura ◽  
...  
2016 ◽  
Vol 10 ◽  
pp. CMPed.S33086 ◽  
Author(s):  
Praveen Kumar

Critical congenital heart disease (CCHD) is a major cause of infant death and morbidity worldwide. An early diagnosis and timely intervention can significantly reduce the likelihood of an adverse outcome. However, studies from the United States and other developed countries have shown that as many as 30%–50% of infants with CCHD are discharged after birth without being identified. This diagnostic gap is likely to be even higher in low-resource countries. Several large randomized trials have shown that the use of universal pulse-oximetry screening (POS) at the time of discharge from birth hospital can help in early diagnosis of these infants. The objective of this review is to share data to show that the use of POS for early detection of CCHD meets the criteria necessary for inclusion to the universal newborn screening panel and could be adopted worldwide.


Open Heart ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. e001836
Author(s):  
Kristofer Skoglund ◽  
Annika Rosengren ◽  
Georgios Lappas ◽  
Maria Fedchenko ◽  
Zacharias Mandalenakis

Background and objectivesDuring the last decades, the survival rates in patients with congenital heart disease have increased dramatically, particularly in patients with complex heart malformations. However, the survival in patients with simple defects is still unknown. We aimed to determine the characteristics and the risk of mortality in patients with isolated pulmonary valve stenosis (PS).MethodsSwedish inpatient, outpatient and cause of death registries were used to identify patients born between 1970 and 2017 with a diagnosis of PS, without any other concomitant congenital heart lesion. For each patient with PS, 10 control individuals without congenital heart disease were matched by birth year and sex from the total population registry. We used median-unbiased method and Kaplan-Meier survival analysis to examine the risk of mortality.ResultsWe included 3910 patients with PS and 38 770 matched controls. The median age of diagnosis of PS was 0.7 years (IQR 0.3–7.0). During a median follow-up of 13.5 years (IQR 6.5–23.5), 88 patients with PS and 192 controls died; 500 patients with PS (12%) underwent at least one transcatheter or surgical valve intervention. The overall mortality rate was significantly higher in patients with PS compared with matched controls (HR 4.67, 95% CI 3.61 to 5.99, p=0.001). Patients with an early diagnosis of PS (0–1 year) had the highest risk of mortality (HR 10.99, 95% CI 7.84 to 15.45).ConclusionsIn this nationwide, register-based cohort study, we found that the risk of mortality in patients with PS is almost five times higher compared with matched controls. Patients with an early diagnosis of PS appears to be the most vulnerable group and the regular follow-up in tertiary congenital heart units may be the key to prevention.


Neonatology ◽  
2018 ◽  
pp. 1065-1078
Author(s):  
Francesca R. Pluchinotta ◽  
Luciane Piazza ◽  
Angelo Micheletti ◽  
Javier Fernandez Sarabia ◽  
Diana Negura ◽  
...  

2012 ◽  
Vol 158A (4) ◽  
pp. 720-725 ◽  
Author(s):  
Karina Meden Sørensen ◽  
Milad El-Segaier ◽  
Eva Fernlund ◽  
Ab Errami ◽  
Patrice Bouvagnet ◽  
...  

2003 ◽  
Vol 22 (S1) ◽  
pp. 57-57
Author(s):  
J. Martinez ◽  
O. G�mez del Rinc�n ◽  
M. del R�o ◽  
F. Figueras ◽  
V. Borobio ◽  
...  

2013 ◽  
Vol 8 (2) ◽  
pp. 128-133
Author(s):  
Md Faruque ◽  
Md Abdur Rashid ◽  
MA Muttalib ◽  
Syed Aminul Islam ◽  
Md Hafizur Rahman

Congenital Heart disease is although uncommon but is not rare. Complex congenital Heart disease is more rare. The survivality is less. Most of the patient die in the Early childhood. Our patient survive up to the age of 23 yrs. Early diagnosis & early corrective surgery will prolong the survivality & even normal life. DOI: http://dx.doi.org/10.3329/uhj.v8i2.16086 University Heart Journal Vol. 8, No. 2, July 2012


Congenital heart disease has an overall incidence of 8-10/1000 live births and is similar across the globe. The incidence may be higher in countries where consanguinity is high, suggesting an autosomal recessive gene as a risk factor. Advances in surgical expertise has improved outcome of simple and complex heart diseases. Early diagnosis and referral to centers caring for such babies is an important contributory factor to a better outcome. This review focuses on early diagnosis of congenital heart disease in neonates and children by Health Care Physicians (General and Family Physicians) and Pediatricians. Careful neonatal and pediatric cardiovascular examination, screening pulse oximetry on all newborns before hospital discharge and an early post natal follow up are important to diagnose CHD.


Neonatology ◽  
2012 ◽  
pp. 569-576
Author(s):  
Luciane Piazza ◽  
Angelo Micheletti ◽  
Diana Negura ◽  
Carmelo Arcidiacono ◽  
Antonio Saracino ◽  
...  

2017 ◽  
Vol 15 (1-2) ◽  
pp. 55
Author(s):  
Dan G. McNamara

Initial recognition of congenital heart disease in the neonate as well as decisions for referral to a cardiac center for subsequent management are usually the responsibility of the pediatrician. While the malformations of the heart sometimes present obvious mamifestions in the newborn, the early diagnosis is more often elusive and the type and severity of cardiac dysfunction can be obscure, especially when only traditional methods of clinical evaluation are used.


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