Hyperphosphatemia leads to metastatic calciﬁcation and may present as cataract and basal ganglia calciﬁcation order generic bisoprolol pills. Presence of premature cataract buy line bisoprolol, refractory seizures cheap 5mg bisoprolol with amex, and dys- tonia are the clinical clues for the diagnosis of hypoparathyroidism generic 5 mg bisoprolol with mastercard. In addition, patients with mucocutaneous candidiasis and concurrent autoimmune endo- crine disorders particularly adrenal insufﬁciency during childhood should be evaluated for hypoparathyroidism. In patients with childhood-onset adrenal insufﬁciency, treatment with hydrocortisone may unmask underlying hypoparathyroidism. What are the differences in soft tissue calciﬁcation of hypoparathyroidism and hyperparathyroidism? The fundamental basis of soft tissue calciﬁcation in patients with a disorder of mineral homeostasis is elevated calcium phosphate solubility product (>55 mg /2 dl2). In patients with hypoparathyroidism, soft tissue calciﬁcation occurs in basal ganglia, cerebellum, cerebrum (gray and white matter junction), and lens, while renal pelvicalcyceal calciﬁcation can occur during treatment. In patients with primary hyperparathy- roidism, the sites of calciﬁcation include renal parenchyma and pelvicalyceal system, small vessels, pancreas, pericardium, and rarely endometrium. The sites of ectopic calciﬁcation in disorders of mineral homeostasis are summarized in the table given below. However, it is also seen in patients with osteogenesis imperfecta type V and rarely in patients with hypoparathyroidism. Certain drugs, if used inadvertently, may have undesirable consequences in patients with hypoparathyroidism. Metoclopramide, a D2 receptor antago- nist, may result in worsening or appearance of dystonia in those with basal ganglia calciﬁcation. Antiepileptic drugs particularly phenytoin and pheno- 298 13 Disorders of Mineral Homeostasis barbitone can aggravate hypocalcemia and may induce seizure. Loop diuret- ics should also be avoided as they result in hypercalciuria and may exacerbate hypocalcemia. Patients with chronic alcohol intake, malnutrition, malabsorption, renal tubular disorders, uncontrolled diabetes, and those on total parenteral nutrition or loop diuretics are predisposed for hypomagnesemia, whereas use of magnesium salts as cathartics, antacids, or tocolytics may cause hypermagnesemia. However, in clinical practice, this is impractical because of daily injections and higher cost. Therefore, calcium and calcitriol supplementation remain the mainstay of treatment in patients with hypoparathyroidism. However, this therapy does not reduce hypercalciuria and has no effect on bone remodeling. Treatment with calcium and calcitriol commonly results in worsening of hypercalciuria and formation of renal stones. Addition of thiazides may reduce the risk of renal stone by reducing calcium excretion and helps to normalize serum calcium. Despite the use of calcitriol in high doses, hyperphosphatemia usually does not worsen as chronic calcitriol therapy is associated with phosphaturia. Phosphate binder like calcium carbonate is advised in patients with severe hyperphosphatemia to normalize the solubility product; however, data supporting the use of sevelamer and lanthanum are not available. Aims of treatment in a patient with hypoparathyroidism are resolution of symptoms and prevention of long-term complications. Biochemical targets include maintenance of serum calcium in the low–normal range, serum phos- phate in the high–normal range, calcium phosphate solubility product <55 mg /dl2 2, and urinary calcium <300 mg/day. If 24-h urinary calcium excretion exceeds 250 mg, addition of thiazides and low salt intake should be considered. Therefore, serum calcium, phosphate, creati- nine, and urinary calcium should be measured weekly at initiation of treat- ment to titrate the doses and once in 3 months later on. Calcium homeostasis in a healthy individual who ingests 1g of calcium per day is shown in figure 13. Of this 1,000 mg of calcium, 300 mg is absorbed from the duodenum and jejunum, but 100 mg is secreted back into the intestine with net absorption of 200 mg. Two-hundred milligram of absorbed calcium enters into circulation and there is a constant exchange between blood pool and bone calcium pool to maintain the normal serum calcium. The influx of calcium to bone and the efflux of calcium from bone are almost similar (200–500 mg) in young adults, whereas influx is less than efflux in elderly. Approximately, 9,000 mg of calcium is filtered every day and 8,800 mg of this is effectively reabsorbed with a net excre- tion of 200 mg in urine per day irrespective of calcium intake. Therefore, the net calcium balance is nil in a healthy individual with an adequate intake of calcium. However, inadequate intake of dietary/supplemental calcium will induce bone resorption to maintain blood calcium pool as there is sustained renal loss of calcium, and this eventually will diminish bone calcium reserve. Moreover, many elderly people receive proton pump inhibitors which further reduce calcium absorption. A recent study showed that calcium supplementation is associated with increased cardiovascular risk. It is a major phosphotonin (possibly a misnomer as it is a phosphaturic hormone) involved in phosphate homeostasis. It acts in association with its co-receptor α-Klotho and inhibits the translocation of intracellular sodium phosphorus co- transporter (NaPi-2a and 2c) to the cell membrane in proximal convoluted tubule, resulting in phosphaturia. In addition, it also inhibits renal 1 α-hydroxylase activity, thereby decreasing intestinal phosphate reabsorption. Klotho is a gene that encodes a protein which is present in three forms: transmembrane klotho, secreted klotho, and soluble klotho. The shedding of extracellular domain of transmembrane klotho into circulation forms soluble klotho. In addition, Klotho deﬁciency has been incriminated in the pathogenesis of vascular calci- ﬁcation. Klotho prevents vascular calciﬁcation possibly by enhancing phospha- turia, by inhibiting the phosphate uptake by vascular smooth muscle cells, and 302 13 Disorders of Mineral Homeostasis by preserving renal function. Tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by periarticular and surrounding soft tissue calciﬁcation. Patients commonly present with painless boggy swelling with or without a discharging sinus. X-ray reveals densely calciﬁed “cauliﬂower”-like lesion in periarticular soft tissues. Repeated microvascular trauma at joints in the presence of increased solubility product (calcium x phos- phate >55 mg /dl 2 2) results in metastatic calciﬁcation. The treatment strategies are directed to reduce serum phosphate and include restriction of dietary phosphate and use of phosphate binders (sevelamer, lanthanum, calcium acetate) and acet- azolamide. Hypophosphatemic osteomalacia is a clinico-biochemical entity characterized by rickets/osteomalacia and hypophosphatemia. Increased renal excretion of phosphate is the key abnormality in the development of hypophosphatemic osteomalacia. Tumor-induced osteomalacia, also called as oncogenic osteomalacia, is a para- neoplastic syndrome due to secretion of phosphatonins (e. These tumors arise from bone or soft tissue and may be located anywhere in the body but are commonly located in extremities and paranasal sinuses. In endocrine disorders, biochemical conﬁrmation of the disease is followed by structural localization. Most preferred modality for tumor localization is octreotide-based scintigraphy (e. However, only 50–70% of these tumors can be localized by octreotide-based scintigraphy. Further, whole body functional scan should be performed for localization as these tumors are frequently present in extremities particularly hands and feet. In routine clinical practice, extremities are usually not scanned and tumors in these locations may therefore be missed. Complete surgical excision of a well-localized tumor with wide margins is cura- tive. If the tumor is inaccessible, radiofrequency ablation and lutetium-based therapies are other alternatives. In situations where the tumor is not localized, phosphate supplementation (15–60 mg/kg/d) along with calcitriol (15–60 ng/ kg/d) is useful in the management of osteomalacia. Further, calcitriol may prevent the development of sec- ondary/tertiary hyperparathyroidism associated with phosphate therapy. What is the importance of measurement of calcium proﬁle in patients with McCune–Albright syndrome? McCune–Albright syndrome is due to post-zygotic somatic mutation associ- ated with constitutive action of Gsα subunit manifesting as ﬁbrous dysplasia (monostotic/polyostotic), cafe-au-lait macules, and endocrinopathies.
Anti-sclerostin antibody (romosozumab) is an effective anabolic agent which promotes new bone formation by facilitating Wnt pathway cheap generic bisoprolol canada. It is administered subcutaneously monthly or every 3 months and is associated with minimal adverse events buy bisoprolol master card, e discount bisoprolol on line. Tyrosine Src kinase plays an important role in osteoclast activation and conse- quent bone resorption buy bisoprolol with visa. Like odanacatib, it only impairs osteoclast function and does not lead to osteoclast apoptosis. The drug is currently explored for osteosarcoma and in skeletal metastasis, rather than osteoporosis. This occurs because of slow pro- gression of immuno-inﬂammatory destruction of β-cells. They are predis- posed for other autoimmune disorders and may have familial clustering of diabe- tes. The following criteria have been proposed for the diagnosis of fulminant type 1 diabetes • Ketosis or ketoacidosis within a week after onset of hyperglycemic symptoms • Plasma glucose level ≥288 mg/dl and HbA1c<8. Treatment includes intravenous saline and insulin during ketoacidosis followed by basal-bolus insulin after recovery from ketoacidosis. In 16 Type 1 Diabetes Mellitus 367 addition, the infants are exclusively breast-fed till the age of 6 months, which minimizes the exposure to environmental antigens. Therefore, occurrence of diabetes before the age of 6 months suggests the possibility of neonatal diabetes. These patients typically present within ﬁrst few days to weeks of life, and the disease commonly remits by 12 weeks of age. However, 50% of these patients may have a relapse of disease during adolescence or young adult- hood. However, glucotoxicity has been proposed as a possible mechanism for rapid decline in β-cell function, which improves after treatment with insulin. The environmental factors that predispose to type 1 diabetes include viral infections (congenital rubella, coxsackie virus, and mumps), dietary factors (bovine milk and gliadin), and toxins (nitrates). Coxsackie virus speciﬁcally affects β-cells in genetically predisposed individuals, and consequently results in insulitis. This may be partially attributed to increase in personal hygiene (“hygiene hypothesis”) and rising incidence of obesity (“accelerator hypothesis”). Accelerator hypothesis proposes that there is an enhanced immuno- inﬂammatory destruction of β-cells in response to increased insulin resis- tance associated with obesity. Insulin resistance leads to increased β-cell antigen expression mediated through rising glucose and free fatty acids levels, thereby augmenting insulitis. In addition, adipocytokines released from adipocytes act as fuel to the ﬁre in patients with obesity. Therefore, obese children who are genetically predisposed for type 1 diabetes have a faster destruction of β-cells. This combination of type 1 diabetes with insulin resis- tance is also called as “double diabetes. Streptozotocin is administered intraperitoneally at a dose of 50–100 mg/kg, and it causes cell damage by karryor- rhexis, while alloxan leads to free radical-mediated β-cell damage. Normal pancreas weighs about 100–150 g and consists of one million islets that contribute 2% of its weight. Absolute insulin deﬁciency manifest as sarcopenia, ketosis/ keto- acidosis and the need for insulin for glycemic control since diagnosis. If the screening tests are negative, retest- ing should be done periodically at intervals of 1–2 years. The prevalence of autoantibody positivity progressively declines with advancing duration of disease. C-peptide is a 31 amino-acid peptide that connects A and B chains of insulin in the proinsulin molecule. In this scenario, assessment of endogenous β-cell reserve may help in differentiating the two. The advantages of estimation of C-peptide over insulin include its longer half-life (30 min vs. C-peptide should be measured only after optimizing blood glucose proﬁle to avoid the effect of glucotoxicity on β-cells. Can C-peptide measurement replace islet autoimmune markers for dif- ferentiating type 1 from type 2 diabetes? C-peptide is a marker of β-cell function and cannot replace islet autoim- mune markers. The 372 16 Type 1 Diabetes Mellitus limitations with C-peptide estimation include less validated cutoffs for deﬁning β-cell reserve and poor diagnostic value in the presence of renal insufﬁciency. In addition, diabetes- related complications like diabetic kidney disease, gastroparesis, and blind- loop syndrome can also contribute to anemia. A period of early intensive glycemic control in patients with diabetes prevents the development of micro- and macrovascular complications in the long run, despite discontinuation of intensive therapy later on. The long-term beneﬁcial effect of intensive glycemic control early in the course of disease is termed as good “metabolic memory” or “legacy effect. Glucose hypothesis states that chronic and persistent hyperglycemia results in micro- and macrovascular complications and intensive glycemic control pre- vents the onset/delay the progression of these complications. This is because of higher susceptibility to hypoglycemia in children due to unpredictable food intake and physical activ- ity. In normal individuals, the ﬁrst phase of insulin secretion starts immediately after food intake and lasts for 10–15 min and is due to release of preformed insulin granules. This is followed by second phase of insulin secretion which lasts for 90–120 min and is due to biosynthesis of insulin. The ﬁrst phase of insulin secre- tion is responsible for suppression of hepatic glucose output, while the second phase regulates the entry of glucose into insulin-dependent target sites including muscle and adipocytes. On the contrary, regular insulin has onset of action in 30–60 min, exerts its peak effect at 2–4 h and its action lasts for 6–8 h. The delayed onset of action of regular insulin mandates its administration at least 30 min prior to meal, and the delay in peak effect results in early postprandial hyperglycemia. In addition, the prolonged duration of action of regular insulin results in late postprandial hypoglycemia, leading to inter-prandial snacking. Further, regular insulin has marked intra- and interindividual variations in absorption (up to 20–50%), thereby resulting in increased risk of hypo- or hyper- glycemia, even with the same dose. Short-acting insulin analogues have an onset of action within 15 min and exert its peak effect at 1 h, and the action lasts for 3–4 h. Because of its rapid onset of action, it is convenient for the patient to administer insulin immediately before a meal, or sometimes immediately after a meal. This may be especially useful in children, elderly, and in patients with gastroparesis. The early peak effect results in better postprandial glycemic control, and short duration of action prevents the risk of late postprandial hypoglycemia. Despite these advantages of short-acting insulin analogues, the reduction in HbA1c is similar to that achieved with regular insulin. These are peakless insulins with duration of action of approximately 18–36 h, have less intra- and interindividual variability in absorption and decreased risk of nocturnal hypoglycemia. Parameter Detemir Glargine Degludec No of amino acid 50 53 50 Fatty acid chain Present No Present (myristic acid) (hexadecanedioic acid) pH Neutral Acidic Neutral Mechanism of prolonged Binding to Precipitation at Multihexamer chain duration of action albumin in neutral pH in formation in circulation subcutaneous tissue subcutaneous tissue Onset of action 1 h 1 h 1–1. Insulin detemir is weight neutral as compared to other insulins, and this effect is possibly mediated by a direct effect on satiety center. In addition, detemir is more hepato-selective in its action because of greater availability of albumin- bound detemir to liver as compared to peripheral tissues, thereby resulting in reduced lipogenesis. Majority of patients require twice daily injection of detemir as its duration of action varies from 6 to 23 h. Insulin degludec offers an advantage of ﬂexibility in dose schedule and can be administered between 8 and 36 h. In addition, as it is a truly peakless insulin, it is associated with the lowest incidence of nocturnal hypoglycemia among the basal insulins. Administration of degludec results in very high plasma insulin levels, and degludec has been shown to be associated with higher incidence of cardiovascular events. Premixed insulin consists of short-acting and intermediate-acting insulin in a ﬁxed ratio, in order to provide prandial and basal insulin together to minimize the number of injections, thereby making it convenient to the patient.
In the Mayo Clinic series order bisoprolol 10 mg with amex, placement of a partial annuloplasty ring correlated with freedom from early reoperation (103) (see Fig order bisoprolol 10 mg without a prescription. There was one death (a neonate who died of pulmonary disease) and one valve replacement order bisoprolol on line. Thus bisoprolol 5 mg amex, tricuspid valve repair techniques continue to evolve, and there is no universally correct technique because of the anatomic variation observed in patients with Ebstein anomaly. However, when the transition is met between the anterior and inferior (posterior) leaflets, it is common for there to be failure of delamination (inset) resulting in fibrous and muscular attachments between the leaflet and myocardium. The diagram demonstrates the scissors approaching the area where there is some adherence of leaflet tissue to the underlying myocardium. The dissection continues in a way that a portion of distal anterior leaflet and some inferior leaflet tissue is “surgically delaminated. Importantly, do not disrupt chordal attachments to the leading edge of any leaflet. B: As the anterior and surgically delaminated inferior leaflet is reflected away from the right ventricular myocardium, all fibrous and muscular attachments into the body of the underside of the leaflet are incised as shown with the scissors. It is important to keep all attachments of the leading edge of the leaflet intact; if the edge is linearly attached, then surgical fenestrations are created as depicted earlier. C: Dissection is continued with a scissors with the goal of taking down all attachments between the septal leaflet and myocardium but preserving all attachments of the leading edge to the endocardium as described above. The dissection should proceed medially all the way to the anteroseptal commissure. There can be marked variability in the status of the leading edge of the septal leaflet as was described for the anterior and inferior leaflets. If there is a linear attachment, then surgically created fenestrations are also made in this leaflet (not shown). D: Intraoperative photo demonstrating the mobilized anterior and inferior (posterior) leaflets. Natural fenestrations are shown at the junction of the anterior and inferior leaflets (arrows). E: After the anterior, inferior, and septal leaflets have been completely mobilized, the cut edge of the inferior leaflet is rotated clockwise to meet the proximal edge that has been prepared of the septal leaflet. The two are approximated with interrupted 6-0 monofilament sutures completing the cone reconstruction. The inferior annulus is usually plicated with two to four simple or figure-of-eight 5- 0 monofilament sutures. A: Preoperative examination, demonstrating no remnants of tricuspid septal leaflet tissue within the anatomic right ventricular inlet. The anterior leaflet is severely tethered by multiple attachments to the right ventricular free wall. Even though this is a frame from peak systole, the leaflet tissue remains parallel to and very near the right ventricular free wall. The patient underwent a cone reconstruction of her tricuspid valve a short time later. By attaching the “annulus” of the reconstructed “cone” to a plane near the anatomic atrioventricular junction (arrows), the surgeon has completely eliminated the large atrialized portion of the right ventricle, as well as the regurgitation. Despite the severe deformity of the native valve, the color flow image in the postreconstruction echocardiogram (D) showed only mild tricuspid regurgitation. But if valve repair is not feasible, then porcine bioprosthetic valve replacement is a good alternative, particularly in older adults. Bioprostheses are preferred to mechanical valves due to the relatively good durability and the lack of need for anticoagulation (118). However, bioprosthetic valves are less durable and are more prone to structural valve deterioration in infants and young children. The decreased durability observed in young children is related to increased calcification and also to rapid somatic growth that results in patient prosthesis mismatch. In children and adults with Ebstein anomaly, a bioprosthesis placed in the tricuspid position has greater durability than valves placed in non-Ebstein patients. Mechanical valve disc immobility may be a nidus for thrombosis despite adequate anticoagulation. Right reduction atrioplasty routinely is performed at the time of atriotomy closure and suture lines near the crista terminalis are avoided to decrease atrial tachyarrhythmias. Surgical Treatment of Arrhythmias Atrial fibrillation, atrial flutter, and reentrant supraventricular tachycardia are common arrhythmias in adults with Ebstein anomaly. Locations for surgical lesions in both atria have been previously described (124,125). It extends from the posterolateral tricuspid valve annulus to the coronary sinus and to the inferior vena cava. In cases of accessory pathway conduction, preoperative mapping and ablation are performed in the electrophysiology laboratory. In the current era, intraoperative mapping and ablation for accessory pathways rarely are performed. Cardiac Transplantation Cardiac transplantation rarely is required for Ebstein anomaly. Outcomes Short Term Despite advances in medical and surgical techniques, management of small infants with Ebstein anomaly and cyanosis remains challenging. The severity of the valve malformation and dysfunction of both ventricles will affect outcome. In the current era, early results in children are more favorable and operative mortality is ∼3% in experienced centers. Patients with Ebstein anomaly experience a high incidence of atrial tachyarrhythmias. Atrial fibrillation and atrial flutter are the most common arrhythmias in older patients. Except for very ill newborns, adult survival with a good quality of life is expected for patients with Ebstein anomaly (105). The Mayo Clinic surgical experience with Ebstein anomaly now exceeds 1,000 patients. In a small subset of these patients, formal exercise testing was conducted (127,128). There was improvement in exercise tolerance after operation, but this may be a result of the elimination of the atrial right-to-left shunt rather than improvement in ventricular function. Freedom from rehospitalization for cardiac causes was 68% and 35% at 10 and 20 years, respectively (105,126). Novel techniques have emerged for long-term management of patients with previous tricuspid valve repair or replacement. Patients with previous tricuspid valve replacement with bioprosthesis dysfunction can be approached with percutaneous valve-in-valve techniques that may obviate or delay some reoperations (130,131) (Video 38. Pregnancy Results Pregnancy in women with Ebstein anomaly is usually well tolerated. In a large series from Mayo Clinic, 89% of women with Ebstein anomaly had vaginal deliveries (132). Most importantly, women with Ebstein anomaly should undergo thorough medical evaluation when considering pregnancy (133). Pregnancy with Ebstein anomaly has been associated with increased risk for prematurity, fetal loss, and congenital heart disease in the offspring (132,133). A multidisciplinary team of obstetricians, congenital cardiac specialists, and cardiac anesthesiologists is required to manage these patients. In the Mayo Clinic experience (105), there were a total of 275 pregnancies among 82 women. The incidence of congenital heart disease in offspring of a parent with Ebstein anomaly was 3. Tricuspid Valve Regurgitation: Congential and Acquired Tricuspid valve regurgitation, not related to Ebstein anomaly, is relatively uncommon and includes a heterogeneous group of lesions with unique management strategies. There are wide anatomical variations that lead to tricuspid regurgitation in patients without Ebstein anomaly. Congenital etiologies include absence of chordae (134) tricuspid valve dysplasia (leaflet thickening with chordal shortening), or unguarded tricuspid valve orifice (135).
Despite these concerns cheapest generic bisoprolol uk, multiple studies have reported successfully tracking the fetal heart bisoprolol 10 mg online, and have reported normal strain and strain rate values at various gestational ages (377 purchase bisoprolol in india,378 order bisoprolol 10mg line,379,380,381,382,383). While concerns for reproducibility and the actual added clinical benefit of myocardial deformation currently limit its clinical use, it is a promising technique for the assessment of fetal cardiac function. Other members of the multidisciplinary team providing counseling may include surgeons, interventional cardiologists, genetic counselors, maternal–fetal medicine specialists, neonatologists, nurse coordinators, social workers, and financial counselors. A standardized approach and coordination may help ensure that all the essential elements of the discussion are consistently included. However, it is also important to recognize the diverse educational backgrounds of the expectant mother and her family, and tailor the language of the consultation appropriately. The fetal cardiologist must further gauge the level of ongoing understanding and alter the consultation accordingly. Shocked and grieving families may find it impossible to absorb all the information initially, so the fetal cardiologist should expect to reiterate, re-explain, or expand upon the discussion over serial consultations (393). The increased level of parental stress and anxiety before, during, and after the fetal consultation should be recognized (25,395). Finding more effective ways to mitigate maternal stress over time will be important for both the mother and the child. Maternal stress during pregnancy has been found to impact on somatic growth, cardiovascular health, and neurocognitive development (396,397,398,399,400). Diagrams or drawings, videos, or models of the heart are helpful visual aides for the consultation. The normal conduction system should be included if the fetal abnormality is an arrhythmia. The discussion of the cardiac lesions or findings must be a clear and forthright description of the anatomy and the physiology. The written diagnosis and a diagram or drawing should be provided to the family to take home. If there are uncertainties in the diagnosis because of the gestational age or limited acoustic windows, those should be acknowledged. The utility and need for serial fetal cardiac evaluations during the remainder of pregnancy should be explained. The potential for changes or evolution of the disease process and the implications of those (e. Any risk for in utero death should be discussed, as should the need for, and likely outcomes of, any in utero medical or surgical intervention. Termination of the pregnancy should be discussed if this is a possible option, while being careful to refrain from imposing any personal bias of the counselor (393,401). Options for medical, catheter-based, and surgical therapy constitute an integral part of the consultation. The fetal cardiologist should review the type and timing of interventions and the likelihood of success. It is important for the fetal cardiologist to be knowledgeable with regards to their local institutional and national outcomes. If a neonatal cardiac surgery or catheterization will clearly be necessary, then prenatal consultation with the congenital heart surgeon or interventional cardiologist can be valuable. Predicting the length of postnatal hospitalization can be very helpful for the family to plan childcare and other life necessities. If nonintervention and palliative care is an appropriate option for an infant, this should be offered, and support arranged from palliative care providers and counselors. The cause of the cardiac findings and the risks for genetic and other associated abnormalities in the fetus should be discussed. Families should be reassured and alleviated of guilt whenever possible regarding their own potential role in the development of the cardiac abnormality. Parents want to know the short-, medium-, and long-term outcomes for their child, including not only survival rates but also quality of life (25,393). Parents want to know about the potential for participation in sports and physical education and for limitations in school performance (25). It is essential, therefore, to discuss the most up to date information available regarding likely physical limitations and other significant health problems. Providing prospective parents with contact information for appropriate support groups may foster connection to families of survivors, providing much needed context and experience and limiting the feeling of isolation. One of the significant benefits of diagnosing cardiac abnormalities prenatally is the ability to provide information to optimize delivery timing and location. These recommendations should be discussed during the consultation and with the obstetrician. Therefore, elective delivery before 39 weeks of gestation is not recommended unless there are significant concerns about fetal well-being or maternal health. For infants with major heart defects, delivery is recommended to take place at or in close proximity to a cardiac center providing the needed medical and surgical intervention, as this has been shown to improve neonatal condition and surgical outcomes (30,42,410,411,412). However, a significantly higher Cesarean section rate for nonreassuring fetal assessment in multiparous women has been shown (412). Risk-stratified delivery plans have been developed for neonates with cardiac disease (413,414,415). Fetal cardiac abnormality and real-time ultrasound study: A case of Ivemark syndrome. Prenatal ultrasound diagnosis of hypoplastic left heart syndrome in utero associated with hydrops fetalis. Echocardiographic studies of the human fetus: Prenatal diagnosis of congenital heart disease and cardiac dysrhythmias. Prenatal detection of congenital heart disease in a low risk population undergoing first and second trimester screening. Early fetal echocardiography: Congenital heart disease detection and diagnostic accuracy in the hands of an experienced fetal cardiology program. A population-based study of the association of prenatal diagnosis with survival rate for infants with congenital heart defects. Impact of introduction of 20-week ultrasound scan on prevalence and fetal and neonatal outcomes in cases of selected severe congenital heart defects in The Netherlands. Twenty-year trends in diagnosis of life-threatening neonatal cardiovascular malformations. Evaluation of prenatal diagnosis of congenital heart disease in a regional controlled case study. Parents of children with congenital heart disease prefer more information than cardiologists provide. Challenges and controversies in fetal diagnosis and treatment: Hypoplastic left heart syndrome. Diagnosis and treatment of fetal cardiac disease: A scientific statement from the American Heart Association. Prenatal diagnosis, birth location, surgical center, and neonatal mortality in infants with hypoplastic left heart syndrome. Prenatal detection of transposition of the great arteries reduces mortality and morbidity. Impact of prenatal diagnosis on survival and early neurologic morbidity in neonates with the hypoplastic left heart syndrome. Improved surgical outcome after fetal diagnosis of hypoplastic left heart syndrome. Prenatal diagnosis of pulmonary atresia: Impact on clinical presentation and early outcome. Effect of prenatal diagnosis of critical left heart obstruction on perinatal morbidity and mortality. Prenatal diagnosis of coarctation of the aorta improves survival and reduces morbidity. Comparison of outcome when hypoplastic left heart syndrome and transposition of the great arteries are diagnosed prenatally versus when diagnosis of these two conditions is made only postnatally. Relation of prenatal diagnosis with one- year survival rate for infants with congenital heart disease. Detection of transposition of the great arteries in fetuses reduces neonatal morbidity and mortality. Immediate and long-term outcomes in children with prenatal diagnosis of selected isolated congenital heart defects.
Z. Riordian. Arkansas Tech University. 2019.