Most common heart defect in congenital rubella syndrome
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Congenital rubella syndrome (CRS) is due to maternal infection with rubella virus and can include heart problems, microcephaly, vision problems, hearing problems, intellectual disability, bone and growth problems, and liver and spleen damage. From: Case
Studies in Public Health, 2018 Robert M. Kliegman MD, in Nelson Textbook of Pediatrics, 2020 In 1941 an ophthalmologist first described a syndrome of cataracts and congenital heart disease that he
correctly associated with rubella infections in the mothers during early pregnancy (Table 274.2). Shortly after the first description, hearing loss was recognized as a common finding often associated with microcephaly. In 1964-1965 a pandemic of rubella occurred, with 20,000 cases reported in the United States, leading to more than 11,000 spontaneous or therapeutic abortions and 2,100 neonatal deaths. From this experience emerged the expanded definition of CRS that includes numerous
other transient or permanent abnormalities. Nerve deafness is the single most common finding among infants with CRS. Most infants have some degree of intrauterine growth restriction. Retinal findings described assalt-and-pepper retinopathy are the most common ocular abnormality but have little early effect on vision. Unilateral or bilateral cataracts are the most serious eye finding, occurring in about a third of infants (Fig.
274.4). Cardiac abnormalities occur in half of the children infected during the first 8 wk of gestation. Patent ductus arteriosus is the most frequently reported cardiac defect, followed by lesions of the pulmonary arteries and valvular disease. Interstitial pneumonitis leading to death in some cases has been reported. Neurologic abnormalities are common and may progress following birth. Meningoencephalitis is present in 10–20% of infants with CRS and may persist for up to 12 mo.
Longitudinal follow-up through 9-12 yr of infants without initial retardation revealed progressive development of additional sensory, motor, and behavioral abnormalities, including hearing loss and autism. PRP has also been recognized rarely after CRS. Subsequent postnatal growth retardation and ultimate short stature have been reported in a minority of cases. Rare reports of immunologic deficiency syndromes have also been described. A variety of
late-onset manifestations of CRS have been recognized. In addition to PRP, they include diabetes mellitus (20%), thyroid dysfunction (5%), and glaucoma and visual abnormalities associated with the retinopathy, which had previously been considered benign. Neurocognitive Development: Normative DevelopmentIsabelle Boucoiran, ... Christian Renaud, in Handbook of Clinical Neurology, 2020 DiagnosisAntenatal diagnosisCRS represents the manifestations of congenital infection with the rubella virus. The infection affects many fetal systems (Miller et al., 1982; Gregg, 1991; Zimmerman et al., 2001). The most common congenital defects and late manifestations are shown in Table 28.2 (Weil et al., 1975; Gregg, 1991; Berger et al., 2011; Yazigi et al., 2017). Of note, all the defects listed in this table have been associated with CRS; however, are they are not specific to congenital rubella infection, and the causal relationship is uncertain. Table 28.2. Prenatal ultrasound finding, presentation at birth, and late manifestations of congenital rubella syndrome (Weil et al., 1975; Gregg, 1991; Berger et al., 2011; Yazigi et al., 2017)
The risk of CRS after maternal infection is essentially limited to the first 16 weeks of gestation. Risk of CRS is 65%–85% in the first 2 months of gestational age, decreasing to 30%–35% and single organ involvement (deafness or congenital heart disease) for infections in the third month of gestation, and only 10% for the fourth month (Gershon, 2015). Little, if any, risk of CRS is associated with infection beyond 20 weeks, and IUGR seems to be the only sequela of third trimester infections (Johnson and Hall, 1958; Bayer et al., 1965; Peckham, 1972; Weil et al., 1975; Ozsoylu et al., 1978; Miller et al., 1982; Gregg, 1991; Webster, 1998; Reef et al., 2000). Periconceptional maternal infection does not seem to increase the risk of CRS (Enders et al., 1988). Maternal immunity, either from vaccination or natural infection, is generally protective against intrauterine rubella infection (Aboudy et al., 1997; Bullens et al., 2000). However, there have been cases of CRS with maternal reinfection, all limited to < 12 weeks of gestational age, (Robinson et al., 1994) among both women with either natural or acquired immunity (Schoub et al., 1990; Zolti et al., 1990; Weber et al., 1993; Paludetto et al., 1994; Robinson et al., 1994; Fogel et al., 1996; Aboudy et al., 1997; Bullens et al., 2000; Gilbert et al., 2017). Therefore, CRS should always be considered in a fetus or neonate with ultrasound findings or clinical picture suggestive of congenital infection regardless of maternal serostatus. When suspected, rubella congenital infection should be confirmed antenatally by PCR, culture, and fetal IgM performed on chorionic villus sampling, fetal blood sampling, or amniotic fluid (Ho-Terry et al., 1990; Bosma et al., 1995; Tanemura et al., 1996; Mace et al., 2004; Andrade et al., 2006; Best, 2007; Pham et al., 2013). Postnatal diagnosisLaboratory diagnosis of CRS can be confirmed by isolation of the virus or positive result for rubella RT-PCR from a clinical specimen including pharyngeal swab, conjunctivae, cerebrospinal fluid (CSF), or urine. Presence of the virus in cataractous lens tissue may also be detected for many months. The presence of rubella IgM or persistence of rubella IgG antibodies, after elimination of maternally transmitted IgG, are other indirect methods to confirm CRS. However, sensitivity of rubella IgM results may be low and direct methods for virus identification may be more appropriate. Read full chapter URL: https://www.sciencedirect.com/science/article/pii/B9780444641502000290 Rubella Virus (German Measles)John E. Bennett MD, in Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases, 2020 Congenital Rubella SyndromeRubella can be a disastrous disease in early gestation and can lead to fetal death, premature delivery, and an array of congenital defects. The incidence of congenital rubella in a given population is quite variable, depending on the number of susceptible individuals, the circulation of virus in the community, and, in recent times, the use of rubella vaccine. The rubella epidemic of 1964 left 30,000 affected infants in its wake.6 Between 1969 and 1979, however, an average of 39 cases per year were reported to the CDC.80–82 Since the advent of the 21st century, congenital rubella has been essentially eliminated from the United States.6,17,23,24 The effects of rubella virus on the fetus depend to a large extent on the time of infection; in general, the younger the fetus when infected, the more severe the illness. During the first 2 months of gestation, the fetus has a 65% to 85% chance of being affected, with an outcome of multiple congenital defects or spontaneous abortion.8 Rubella during the third month of fetal life has been associated with a 30% to 35% chance of developing a single defect, such as deafness or congenital heart disease. Fetal infection during the fourth month carries a 10% risk for a single congenital defect. Occasionally fetal damage (deafness alone) is seen if rubella occurs up to the 20th week of gestation.83 The specific signs and symptoms of congenital rubella may be classified as temporary (e.g., low birth weight), permanent (e.g., deafness), and developmental (e.g., myopia).80 The most common manifestations are deafness, cataract or glaucoma, congenital heart disease, and mental retardation; the major clinical manifestations are listed inTable 152.1.80 Prospective studies of the congenital rubella syndrome suggest that it should not be considered a static disease. Some children whose mothers had rubella during pregnancy and who were considered normal at birth were found to have manifestations of congenital rubella when they reached school age.84,85 Diabetes mellitus in late childhood has also been observed 50 times more frequently in children who had congenital rubella than in healthy children.8,86 Insulin-dependent diabetes has been reported in 40% of adult survivors of congenital rubella from the 1942 epidemic.87 In a follow-up study of 242 children who had congenital rubella, rubella virus–induced diabetes had genetic and immunologic features similar to those observed in other forms of insulin-dependent diabetes: the frequency of the human leukocyte antigen allele HLA-DR3 was increased, and the frequency of HLA-DR2 was decreased.88 Antibodies to pancreatic islet cells or cytotoxic surface antibodies were present in 80% of patients with abnormalities in serum glucose concentration.88 At autopsy of patients with congenital rubella, the virus was isolated from the pancreas, which was noted to have a subnormal number of glandular cells.88 Progressive encephalopathy resembling subacute sclerosing panencephalitis was observed in children with congenital rubella.89,90 In 1991, a group of 40 adults born with the congenital rubella syndrome between 1939 and 1943 were reexamined. Although they had multiple defects involving hearing, diabetes, growth retardation, and eye and heart abnormalities, most were well adjusted socially. There was no increased incidence of malignant disease in these 50-year-old survivors.91 Vaccine-Preventable DiseasesIn Immunology for Pharmacy, 2012 ComplicationsCongenital Rubella SyndromeCongenital rubella syndrome (CRS) is the major complication associated with rubella infections. Measles infection of the mother during the first trimester of pregnancy is associated with encephalitis, hearing loss, and blindness in the newborn infant, and, later, intellectual disabilities. Between 1964 and 1965, a rubella epidemic resulted in 12.5 million cases of rubella infection. CRS occurred in 20,000 newborns and resulted in 15,000 neonates being either deaf or blind, 2000 with encephalitis, and 1800 children with intellectual disabilities. Rubella Infections in the Second and Third TrimestersIf the mother is infected with rubella during the fourth and fifth months of pregnancy, deafness is the most common complication in the offspring. Ocular, cardiac, and neurologic abnormalities have also been reported. ArthritisIn 70% of women, rubella infection causes arthritis and arthralgia in the fingers, wrists, or knees. Symptoms may persist for 2 to 6 weeks. Read full chapter URL: https://www.sciencedirect.com/science/article/pii/B9780323069472100252 Rubella and Congenital RubellaRick D. Kellerman MD, in Conn's Current Therapy 2021, 2021 DiagnosisGiven its nonspecific nature and similarity to other viral infections, clinical diagnosis of rubella is challenging and largely unreliable. Suspected infection should be confirmed by 1 of 3 diagnostic methods: (1) rubella immunoglobulin M (IgM) serology, (2) a demonstrated rise in rubella virus immunoglobulin G (IgG) between acute and convalescent phases, or (3) detection of rubella virus by PCR. Among the existing options for laboratory diagnosis, rubella IgM is the most accessible and widely used. However, collection timing is important to consider. Rubella IgM will only be detectable in about 50% of cases on the day of rash appearance but will be present in nearly all cases by 7 to 10 days after the rash. It will then remain positive for 4 to 12 weeks. Importantly, serum IgM testing is most sensitive and specific in the setting of local outbreaks. False-positive results occur more frequently in sporadic cases, and in those instances, additional means of analysis should be performed to confirm diagnosis. Rubella IgG testing can be used to diagnose acute rubella infection under two circumstances: either (1) a negative rubella IgG during acute infection followed by a positive IgG in the convalescent phase, or (2) a fourfold increase in IgG titer over 10 to 14 days. IgG avidity testing may also be useful. This measures the strength of antigen-antibody binding, which is typically weaker in acute infection and increases over time. Therefore a low avidity index would indicate a more recent infection. Viral isolation of rubella by PCR is quite valuable for diagnostic confirmation and can be performed on samples obtained from throat or nasopharyngeal swabs. These tests are not as widely available in postvaccination settings and may need to be performed in conjunction with local health departments or national epidemiology centers. Diagnosis of CRS in infants can similarly be confirmed by one of three methods: (1) rubella IgM detection in serum or cord blood, (2) persistence of rubella IgG > 6 months of age (past the time frame of passive maternal immunity), or (3) PCR isolation of rubella virus from respiratory or urinary samples. Because both rubella virus and IgM remain positive for several months in patients with CRS, the time frame for testing is less crucial than in cases of postnatal infection. ObstetricsDave E. Williams, Gabriella Pridjian, in Textbook of Family Medicine (Eighth Edition), 2012 RubellaCongenital rubella was first recognized in 1941, when after a rubella epidemic, a large number of children born to infected mothers were noted to have cataracts. Immunization against the rubella virus in the United States, Canada, and many European countries has decreased maternal rubella and thus congenital rubella. In the United States, only a few cases of congenital rubella are reported per year. Attention is now directed at its eradication in developing countries (Banatvala, 1998). Although maternal infection can be subclinical, it usually presents 14 to 21 days after exposure with a maculopapular rash that begins on the face and spreads to the neck, trunk, arms, and legs. It is associated with lymphadenopathy, malaise, arthralgias, and petechiae. There is no therapy other than supportive. Pregnant women found not to have immunity to rubella should be instructed to avoid individuals who have viral illnesses. Suspected infection should be documented by specific rubella IgG and IgM measurement or by viral culture of the mother. Maternal rubella acquired in the first trimester of pregnancy has a high risk of conferring damage to the developing fetus, and documented cases should be counseled and pregnancy interruption offered. In congenital rubella syndrome, many abnormalities can be found, such as cataracts, chorioretinitis, microphthalmia, congenital heart disease, myocarditis, microcephaly, deafness, mental retardation, and bone lesions, as well as signs of systemic infection (pneumonitis, hepatosplenomegaly, hepatitis, thrombocytopenia) (Stamos and Rowley, 1994). Read full chapter URL: https://www.sciencedirect.com/science/article/pii/B9781437711608100211 Perinatal InfectionsDrucilla J. Roberts, in Diagnostic Pathology of Infectious Disease (Second Edition), 2018 RubellaCongenital rubella is rare in developed countries but is still a risk among nonimmunized pregnant women in the developing world.154,155 The congenital syndrome is devastating and well described and includes cardiac and ocular anomalies as well as growth restriction and neurocompromise.156-158 Placental findings are nonspecific and depend on gestational age.159 Chronic villitis, with or without necrosis and fibrin agglutination, has been described (Fig. 18.18). Occasionally, inclusions are present, which can assist in the differential diagnosis.159 A publication describes the immunolocalization of the antigen in fetal and placental tissues and reports that antigen is widespread in the tissues known to be associated with malformations in congenital rubella syndrome (heart and brain) as well as in the lung and placenta.160 Read full chapter URL: https://www.sciencedirect.com/science/article/pii/B9780323445856000187 Preconception Care: Improving Birth Outcomes through Care before PregnancyJosephine R. Fowler MD, MS, FAAFP, Brian W. Jack MD, in Family Medicine Obstetrics (Third Edition), 2008 D. RubellaPreventing congenital rubella is important because it can affect all organ systems. Deafness is the most common sequela of congenital rubella syndrome. Parents should be counseled on the importance of immunization. Routine screening should be offered to all women of reproductive age who have not been vaccinated. Women should be counseled not to become pregnant for 3 months after receiving vaccination because of a theoretical risk for transmission. A woman who does become pregnant can be reassured that no documented cases of congenital rubella as a result of vaccination have been reported. A woman with rubella in early gestation is at risk for prematurity, spontaneous abortion, and fetal death. Neonatal infections are rare when maternal infection occurs after 20 weeks. However, in women who are infected in the first trimester, 85% will have an infected fetus or infant. Women should be counseled that infants with congenital rubella are highly contagious and caretakers who are not immunized are at risk for infection. Read full chapter URL: https://www.sciencedirect.com/science/article/pii/B9780323043069500070 Developmental and childhood glaucomaRobert L Stamper MD, ... Michael V Drake MD, in Becker-Shaffer's Diagnosis and Therapy of the Glaucomas (Eighth Edition), 2009 RUBELLACongenital rubella syndrome has a wide variety of severe ophthalmic and systemic complications. A worldwide rubella epidemic from 1963 to 1965 affected thousands of infants, many of whom continue to be seen as adults. Ocular disease was the most commonly noted disorder (78%), followed by sensorineural hearing deficits (66%), psychomotor retardation (62%), cardiac abnormalities (58%), and mental retardation (42%). Multiorgan disease was typical (88%).293 Glaucoma, cataract, microcornea, keratitis, uveitis, and a pigmented retinopathy (Fig. 19-37) are the most common ocular manifestations of congenital rubella infection.294 There is no correlation with gestational age of infection and a specific ophthalmologic defect.293 Rubella keratitis, often of relatively short duration, causes deep corneal clouding in either a diffuse or disciform pattern. This must not be confused with corneal edema resulting from glaucoma. The glaucoma may present in infancy and have the appearance of isolated trabeculodysgenesis. This form is best managed by goniotomy. Glaucoma can also arise from iridocyclitis. These patients respond poorly to goniotomy and should be treated with aqueous suppressants, anti-inflammatory therapy, and cycloplegics during the acute phase, which frequently subsides over several weeks. Later onset glaucoma is commonly seen in rubella eyes with microcornea and cataract extraction under the age of 1 year.289 Read full chapter URL: https://www.sciencedirect.com/science/article/pii/B978032302394800019X Cytomegalovirus, Rubella, Toxoplasmosis, Herpes Simplex Virus, and VaricellaSonya S. Abdel-Razeq, ... Heather S. Lipkind, in Obstetric Imaging: Fetal Diagnosis and Care (Second Edition), 2018 Clinical PresentationCRS refers to a variable constellation of birth defects often including hearing impairment, congenital heart defects, cataracts/glaucoma, and retinopathy,42 as well as fetal growth restriction, hypotonia, developmental delay, and seizures.50 Miller et al. followed 1016 cases with confirmed maternal rubella infection.51 The frequency of congenital infection varied with gestational age; it occurred in more than 80% of women infected in the first trimester, and 54% infected between 13 and 14 weeks, decreasing to 25% by the end of the second trimester.51 Improved fetal immune response and transfer of maternal antibodies across the placenta after 16 weeks are thought to make congenital damage less severe after 16 weeks.40 Read full chapter URL: https://www.sciencedirect.com/science/article/pii/B9780323445481001650 What is the most common congenital defect of congenital rubella syndrome?[1–3] Common congenital defects of CRS include cataracts, congenital heart disease, hearing impairment, and developmental delay. Infants with CRS often present with more than one of these signs but may also present with a single defect, most commonly hearing impairment.
What is the most common congenital heart disease associated with maternal rubella?Patent Ductus Arteriosus, Atrial or Ventricular Septal Defects and Pulmonary Stenosis were the most common (16).
Does rubella cause patent ductus arteriosus?Among the congenital cardiac anomalies that have been reported in infants following maternal rubella durin pregnancy, those most frequently encountered have been patent ductus arteriosus and septal defects.
What birth defects does rubella cause?Rubella is very dangerous for a pregnant woman and her developing baby.. Deafness.. Cataracts.. Heart defects.. Intellectual disabilities.. Liver and spleen damage.. Low birth weight.. Skin rash at birth.. |
