scholarly journals The Impact of Technology on the Diagnosis of Congenital Malformations

2019 ◽  
Vol 188 (11) ◽  
pp. 1892-1901 ◽  
Author(s):  
Loreen Straub ◽  
Krista F Huybrechts ◽  
Brian T Bateman ◽  
Helen Mogun ◽  
Kathryn J Gray ◽  
...  

Abstract As technology improves and becomes more widely accessible, more subclinical congenital malformations are being detected. Using a cohort of 1,780,156 pregnant women and their offspring nested in the 2000–2013 US Medicaid Analytic eXtract, we contrasted time trends in malformations which do not necessarily present with overt clinical symptoms early in life and are more likely to be diagnosed via imaging (secundum atrial septal defect, patent ductus arteriosus, ventricular septal defect, pulmonary artery anomalies, pulmonary valve stenosis, hydrocephalus) with trends in malformations that are unlikely to escape clinical diagnosis (tetralogy of Fallot, coarctation of the aorta, transposition of the great vessels, hypoplastic left heart syndrome, oral cleft, abdominal wall defect). Logistic regression was used to account for trends in risk factors while assessing the impact of increased screening intensity. Prevalence of the diagnosis of secundum atrial septal defect rose from 2.3‰ in 2000–2001 to 7.5‰ in 2012–2013, of patent ductus arteriosus from 1.9‰ to 4.1‰, and of ventricular septal defect from 3.6‰ to 4.5‰. Trends were not explained by changes in the prevalence of risk factors but were attenuated when accounting for screening tests. The other malformations showed no temporal trends. Findings suggest that increased screening partially explains the observed increase in diagnosis of milder cases of select common malformations.

Author(s):  
Mohamad El‐Chouli ◽  
Grímur Høgnason Mohr ◽  
Casper N. Bang ◽  
Morten Malmborg ◽  
Ole Ahlehoff ◽  
...  

Background We describe calendar time trends of patients with simple congenital heart disease. Methods and Results Using the nationwide Danish registries, we identified individuals diagnosed with isolated ventricular septal defect, atrial septal defect, patent ductus arteriosus, or pulmonary stenosis during 1977 to 2015, who were alive at 5 years of age. We reported incidence per 1 000 000 person‐years with 95% CIs, 1‐year invasive cardiac procedure probability and age at time of diagnosis stratified by diagnosis age (children ≤18 years, adults >18 years), and 1‐year all‐cause mortality stratified by diagnosis age groups (5–30, 30–60, 60+ years). We identified 15 900 individuals with simple congenital heart disease (ventricular septal defect, 35.2%; atrial septal defect, 35.0%; patent ductus arteriosus, 25.2%; pulmonary stenosis, 4.6%), of which 75.7% were children. From 1977 to 1986 and 2007 to 2015, the incidence rates increased for atrial septal defect in adults (8.8 [95% CI, 7.1–10.5] to 31.8 [95% CI, 29.2–34.5]) and in children (26.6 [95% CI, 20.9–32.3] to 150.8 [95% CI, 126.5–175.0]). An increase was only observed in children for ventricular septal defect (72.1 [95% CI, 60.3–83.9] to 115.4 [95% CI, 109.1–121.6]), patent ductus arteriosus (49.2 [95% CI, 39.8–58.5] to 102.2 [95% CI, 86.7–117.6]) and pulmonary stenosis (5.7 [95% CI, 3.0–8.3] to 21.5 [95% CI, 17.2–25.7]) while the incidence rates remained unchanged for adults. From 1977–1986 to 2007–2015, 1‐year mortality decreased for all age groups (>60 years, 30.1%–9.6%; 30–60 years, 9.5%–1.0%; 5–30 years, 1.9%–0.0%), and 1‐year procedure probability decreased for children (13.8%–6.6%) but increased for adults (13.3%–29.6%) were observed. Conclusions Increasing incidence and treatment and decreasing mortality among individuals with simple congenital heart disease point toward an aging and growing population. Broader screening methods for asymptomatic congenital heart disease are needed to initiate timely treatment and follow‐up.


Author(s):  
Ali Reza Ahmadi ◽  
Mohammad Reza Sabri ◽  
Zohreh Sadat Navabi ◽  
Mehdi Ghaderian ◽  
Bahar Dehghan ◽  
...  

Background: In 2016, a prospective registry for pediatric patients with congenital heart disease (CHD) was established in Isfahan, Iran. Data on pediatric CHD in Iran are scant; accordingly, we aimed to report the early results of the Persian Registry Of cardioVascular diseasE (PROVE/CHD) Registry in Isfahan. Methods: All patients with CHD and associated defects diagnosed by pediatric cardiologists were assessed via echocardiography for inclusion in the present study between late 2016 and August 2019. The participants’ sociodemographic characteristics, maternal history, birth history, medical history, current clinical presentations in the clinic or hospital, paraclinical data, cardiac diagnoses based on the International Classification of Diseases, 10th Revision (ICD-10), disease management plans, and medications were entered into a questionnaire by the subjects’ parents/legal custodians and physicians and then transferred to the PROVE/CHD Registry. Results: The PROVE/CHD registry encompasses 1252 patients with CHD (49.9% male) at a mean age of 6.50±6.36 years. The most frequent cardiac diagnoses were ventricular septal defect (39.3%), atrial septal defect (29.7%), patent ductus arteriosus (25.4%), pulmonary stenosis (11.0%), tetralogy of Fallot (6.1%), coarctation of the aorta (5.4%), and aortic stenosis (5.1%), respectively. The most frequent interventions were patent ductus arteriosus closure (4.3%), atrial septal defect closure (3.6%), pulmonary valvuloplasty (2.2%), coarctation of the aorta angioplasty (1.9%), and ventricular septal defect closure (1.1%), correspondingly. The approximate corresponding rates of corrective and palliative surgeries were 32.0% and 13.1%. The corrective surgeries were mainly comprised of ventricular septal defect closure (7.8%), patent ductus arteriosus closure (7.3%), atrial septal defect closure (5.1%), and tetralogy of Fallot repair (3.8%), respectively. The palliative surgeries mainly consisted of the Glenn shunt (9.0%) and pulmonary artery banding (3.6%). Conclusion: The PROVE/CHD Registry collects data on pediatric patients with CHD. The results of this registry can provide epidemiological data and a set of homogeneously defined cases for further studies.  


2020 ◽  
pp. 1-4
Author(s):  
Fengfeng Guo ◽  
Lin Lin ◽  
Xiaobo Yu ◽  
YuPeng Song ◽  
Qinghua Yang ◽  
...  

Abstract Background: The objective of this study was to delineate the characteristics and incidence of congenital heart disease (CHD) in patients with isolated microtia and to determine whether the prevalence of CHD among patients with isolated microtia increases with the severity of microtia. Methods: A total of 804 consecutive patients had a pre-operative colour Doppler echocardiographic examination. A retrospective study was performed with the clinical and imaging data from November, 2017 to January, 2019. The χ2 test was performed to analyse the interaction between isolated microtia and CHD. Results: With the colour Doppler echocardiographic examination’s data from 804 consecutive isolated microtia patients, we found CHD, including atrial septal defect, ventricular septal defect, tetralogy of Fallot, patent ductus arteriosus, and others, occurred in 52 of 804 patients (6.5%). Atrial septal defect prevalence in patients with isolated microtia was significantly higher than ventricular septal defect (24/804 versus 11/804, p < 0.05) and patent ductus arteriosus (24/804 versus 2/804, p < 0.001). Ventricular septal defect prevalence in patients with isolated microtia was significantly higher than patent ductus arteriosus (11/804 versus 2/804, p < 0.05). All four types of microtia (concha-type microtia, small concha-type microtia, lobule-type microtia, and anotia) had similar incidences of CHD with no difference in the incidences among these types (p > 0.05 respectively). Furthermore, there was no significant difference in the incidence of the atrial septal defect among the four subtypes (p > 0.05 respectively). Similarly, ventricular septal defect and patent ductus arteriosus also showed no differences (p > 0.05 respectively). Conclusions: The overall incidences of CHD and three most common CHD subtypes (atrial septal defect, ventricular septal defect, and patent ductus arteriosus) in patients with isolated microtia are higher than general population. The prevalence of CHD among patients with isolated microtia does not increase with the severity of microtia. According to our experience in this study, we suggest colour Doppler echocardiographic imaging should be performed for isolated microtia patients soon after birth if possible. Furthermore, for the plastic surgeon and anaesthesiologist, it is important to take pre-operative colour Doppler echocardiographic images which can help evaluate heart function to ensure the safety of the peri-operative period. Future studies when investigating CHDs associated with isolated microtia could focus on genetic and molecular mechanisms.


2021 ◽  
pp. 1-4
Author(s):  
Zahra Khajali ◽  
Ata Firouzi ◽  
Homa Ghaderian ◽  
Maryam Aliramezany

Abstract Ductus arteriosus is a physiological structure if not closed after birth, may lead to many complications. Today, trans-catheter closure of patent ductus arteriosus with Occluder devices is the preferred method. Surgical ligation is used only in certain cases such as large symptomatic patent ductus arteriosus in very small infants and premature babies; unfavourable structure of the duct or economic considerations. In this article, we described haemodynamic and morphological characteristics of five patients with large patent ductus arteriosus which were occluded with Amplatzer device. From 23 January, 2010 to 31 July, 2018, five patients referred to our clinic with large patent ductus arteriosus and pulmonary arterial hypertension for further evaluation. After assessing them with various diagnostic methods, we decided to close defect with ventricular septal defect Occluder device. Patients aged 21–44 years and one of them was male. Ductus closure was successfully done with ventricular septal defect Occluder device. Closure was successful for all of them but in one case, whose device was embolized to pulmonary artery after 24 hr and he underwent surgery. Trans-catheter closure of large patent ductus arteriosus in adult patients with pulmonary hypertension is feasible. Despite the fact that complications may occur even with the most experienced hands, the ‘double disk’ Amplatzer ventricular septal defect muscular Occluder could be advantageous in this setting.


2014 ◽  
Vol 25 (6) ◽  
pp. 1206-1209
Author(s):  
Apinya Bharmanee ◽  
Srinath Gowda ◽  
Harinder R. Singh

AbstractLimb ischaemia is a rare but catastrophic complication related to cardiac catheterisation. We report an infant weighing 3 kg with unrepaired tricuspid atresia type 1b, small patent ductus arteriosus, and ventricular septal defect presenting with cardiogenic shock owing to progressively reduced pulmonary blood flow from closing ventricular septal defect and patent ductus arteriosus. An emergency palliative ductal stent was successfully placed with marked clinical improvement. However, acute limb ischaemia developed necessitating above-knee amputation, despite medical management and vascular surgery. The cause of limb loss in our patient was catheterisation-related vascular injury causing arterial dissection–arterial thrombosis in the presence of shock and coagulopathy. This report emphasises the complexity in managing limb ischaemia associated with coagulopathy and highlights the importance of early recognition of reduced pulmonary flow in a single ventricle patient. Timely elective placement of a surgical systemic to pulmonary shunt would prevent catastrophic clinical presentation of compromised pulmonary flow and avoid the need for an emergent life-saving intervention and its associated complications.


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