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Fetal echocardiography
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Caroline K. Lee, Erik C. Michelfelder, Gautam K. Singh
In the normal fetal heart, the pulmonary valve and PA are slightly larger than the aortic valve and proximal aorta, and normal reference values based on gestational age have been reported (24). If the PA is hypoplastic, pulmonary stenosis or tetralogy of Fallot should be suspected, and the valve morphology and Doppler gradient be carefully evaluated. The aorta is often dilated in tetralogy of Fallot and truncus arteriosus. If the aorta is small, aortic stenosis and/or other left heart obstructive lesions such as coarctation of the aorta or interrupted aortic arch may be present.
Immunology (primary Immunodeficiency Syndromes
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Stephan Strobel, Alison M. Jones
There is a wide variation in clinical presentation and severity. The classical combination includes hypocalcaemia, congenital heart disease (conotruncal abnormalities), characteristic facies, cleft lip/palate, and absent thymus. Later manifestations include speech problems, neurodevelopmental delay and growth retardation. Susceptibility to infection may be increased, depending of the degree of immune deficiency. Facial appearance (Figs 16.13, 16.14): low set, posteriorly rotated ears, hypertelorism, short philtrum and a small mandible. Congenital heart disease: most frequently interrupted aortic arch (type B), also truncus arteriosus and tetralogy of Fallot.Hypocalcaemia: tetany or convulsions; onset usually within 24–48 hours of birth and persists after 14 days; usually associated with low levels of parathyoid hormone (PTH).Thymus: absent thymus may be evident on chest x-ray or may be noted at cardiac surgery. Absent or very low total and naïve T-cells in complete DiGeorge syndrome.
Congenital cardiac anomalies
Published in Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven, Succeeding in Paediatric Surgery Examinations, 2017
Aortic coarctation may be a residual lesion following incomplete repair of aortic coarctation. It may also be a residual lesion following reconstruction of the aortic arch, as in repair of interrupted aortic arch, repair of aortic arch hypoplasia, or the Norwood procedure for palliation of hypoplastic left heart syndrome. Residual aortic coarctation following the Norwood procedure requires balloon dilatation and possible stenting in severe cases, as the pressure load on the single ventricle results in right ventricular dysfunction and insufficiency of the systemic tricuspid valve.
The accuracy of prenatal diagnosis of major congenital heart disease is increasing
Published in Journal of Obstetrics and Gynaecology, 2020
Rebekka Lytzen, Niels Vejlstrup, Jesper Bjerre, Olav Bjørn Petersen, Stine Leenskjold, James Keith Dodd, Finn Stener Jørgensen, Lars Søndergaard
Patients, who at any time had been given an International Classification of Disease (ICD)-10 code corresponding to a CHD (DQ20–DQ25), were identified in the NPR. Major CHD was defined as morphologically complex malformations of the heart and great arteries that typically necessitate surgery or catheter-based intervention within the first year of life (Bull 1999; Ewer et al. 2011; Oster et al. 2014; Sainz et al. 2015). Included diagnoses were derived from Hoffman and Kaplan (2002) and consisted (in hierarchical order modified from Allan et al. 1985) of: (1) univentricular heart, (2) congenitally corrected transposition of the great arteries, (3) truncus arteriosus, (4) transposition of the great arteries, (5) interrupted aortic arch, (6) atrioventricular septal defects (AVSDs), (7) double outlet right ventricle, (8) coarctation of the aorta (CoA), (9) Ebstein’s anomaly, (10) pulmonary atresia with ventricular septal defect, (11) pulmonary atresia with intact ventricular septum and (12) tetralogy of fallot.
Berry syndrome diagnosed by three-dimensional computed tomographic angiography
Published in Acta Cardiologica, 2020
A 7-month-old Chinese boy from a remote village with a heart murmur was referred to our institution for minimally invasive transthoracic patent ductus arteriosus (PDA) closure. Physical examination revealed a different oxygen saturation level in the upper and lower extremity of 95% and 90%, respectively. Blood pressure in the arm was 117/55 mmHg and 78/51 mmHg in the leg. A grade 3/6 systolic murmur was audible at the third left intercostal space. An echocardiogram showed aortopulmonary window (APW) (Figure 1(A), arrow) and the intracardiac shunt direction (two-way shunt, left to right shunt dominates) (Figure 1(B), arrow), PDA and pulmonary hypertension (PH). Computed tomographic angiography (CTA) revealed and demonstrated APW (Figure 1(C and D)), an anomalous origin of the right pulmonary artery from the aorta (AORPA) (Figure 1C), interrupted aortic arch (IAA) (Figure 1(D and E)), PDA (Figure 1(D and E), arrow). Since there might not exist irreversible pulmonary hypertension, invasive hemodynamics was not assessed. This congenital cardiac anomaly requires early diagnosis and timely surgical repair in order to restore normal perfusion especially for the lower body and to prevent the pulmonary damage. The APW morphology was type III (complete absence of the aortopulmonary septum) and closed with auto-pericardium graft. Postoperative CTA revealed the left and right pulmonary arteries and aorta blood flow without interference (Figure 1(F)). One stage repair may be a safe and efficient option for treating Berry syndrome, providing fixed pulmonary hypertension is excluded.
Prostaglandin E1 overdose in a term neonate with congenital heart disease
Published in Clinical Toxicology, 2019
Rachel M. Gorodetsky, Bethany M. Toole, Rachel F. Schult, Timothy J. Wiegand
A full term, 3.265 kg female newborn with known interrupted aortic arch and ventricular septal defect related to DiGeorge syndrome was born via uncomplicated spontaneous vaginal delivery. After delivery, a 50 mL syringe of 10 mcg/mL alprostadil in 5% dextrose was ordered to be held at bedside. However, due to an unclear error, the preparation was mistakenly started and set to infuse over 30 minutes. After 15 minutes of administration, the patient had received 250 mcg of alprostadil (5 mcg/kg/min), representing 200 times the intended dose of 0.025 mcg/kg/min. The neonate became apneic with desaturation to 9% (Figure 1), bradycardic with a nadir in the 50s bpm (Figure 2) and hypotensive with a MAP of 27 mmHg (Figure 3). The medication error was identified and the infusion was stopped. The neonate was immediately intubated for respiratory support and given a bolus of intravenous fluids (IVF) with positive response on blood pressure. Toxicology was called for bedside consultation. Given the short duration of action of alprostadil and the lack of a specific antidote, the toxicity was expected to resolve fairly quickly and supportive care alone was recommended. In the hour following the error, the neonate received a total of 30 mL/kg crystalloid IVF before becoming hemodynamically stable and consistently breathing over the mechanical ventilator. The patient was eventually restarted on alprostadil for her congenital heart disease about four hours after the event with no further complications.