Most common heart defect in congenital rubella syndrome

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

Rubella

Robert M. Kliegman MD, in Nelson Textbook of Pediatrics, 2020

Congenital Rubella Syndrome

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 Development

Isabelle Boucoiran, ... Christian Renaud, in Handbook of Clinical Neurology, 2020

Diagnosis

Antenatal diagnosis

CRS 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]

Prenatal ultrasound findingsCongenital rubella syndrome at birthLate manifestations
Cardiac
 Septal defects
 Pulmonary artery stenosis
Cardiac defects [10%–20%]
 Pulmonary stenosis
 Patent ductus arteriosus
Endocrine
 Diabetes mellitus
 Thyroiditis
 Growth hormone deficit
Cerebral
 Microcephaly
 Ventriculomegaly
 Periventricular calcifications
Central nervous system [10%–25%]
 Microcephaly
 Meningoencephalitis
Neurodevelopmental
 Progressive panencephalitis
 Mental retardation
 Behavioral disorder
 Autism
Sensorineural deafness [19%]
Ocular
 Microphthalmia
 Cataracts
Ophthalmic defects [10%–25%]
 Retinopathy
 Chorioretinitis
 Cataracts
 Microphthalmia
 Pigmentary and congenital glaucoma
Other
 Intra uterine growth restriction
 Amniotic fluid abnormalities Hepatosplenomegaly
Others
 Thrombocytopenia
 Hepatosplenomegaly
 Jaundice
 Radiolucent bone disease
 Purpura

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  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.

Obstetrics

Dave E. Williams, Gabriella Pridjian, in Textbook of Family Medicine [Eighth Edition], 2012

Rubella

Congenital 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].

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Perinatal Infections

Drucilla J. Roberts, in Diagnostic Pathology of Infectious Disease [Second Edition], 2018

Rubella

Congenital 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

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Preconception Care: Improving Birth Outcomes through Care before Pregnancy

Josephine R. Fowler MD, MS, FAAFP, Brian W. Jack MD, in Family Medicine Obstetrics [Third Edition], 2008

D. Rubella

Preventing 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.

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Developmental and childhood glaucoma

Robert L Stamper MD, ... Michael V Drake MD, in Becker-Shaffer's Diagnosis and Therapy of the Glaucomas [Eighth Edition], 2009

RUBELLA

Congenital 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

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Cytomegalovirus, Rubella, Toxoplasmosis, Herpes Simplex Virus, and Varicella

Sonya S. Abdel-Razeq, ... Heather S. Lipkind, in Obstetric Imaging: Fetal Diagnosis and Care [Second Edition], 2018

Clinical Presentation

CRS 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

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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..

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