Infectious Disease · PANCE / PANRE

Cytomegalovirus (CMV)

Ubiquitous beta-herpesvirus — usually asymptomatic in healthy hosts but causes serious disease in neonates and immunocompromised patients.

Also known as: CMV, HHV-5, cytomegalovirus, congenital CMV

Overview

Human cytomegalovirus (HHV-5) is a double-stranded DNA beta-herpesvirus establishing lifelong latency in myeloid progenitors and other cells after primary infection. Manifestations depend critically on host immune status and timing (congenital vs. acquired).

Epidemiology

Seroprevalence rises with age; ~50% of US adults by 40, >90% in lower-income settings. Most common congenital viral infection (~1 in 200 live births; ~10% symptomatic at birth). Leading non-genetic cause of childhood sensorineural hearing loss.

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Risk factors

  • Daycare exposure, healthcare work (high seroconversion)
  • Sexual contact, blood transfusion (rare with leukoreduction), organ/HSC transplantation
  • Pregnancy with primary CMV infection (highest risk of congenital transmission)
  • Immunocompromise: HIV with CD4 <50, solid organ/HSC transplant, high-dose immunosuppression

Pathophysiology

Initial replication in mucosal epithelium followed by dissemination via infected monocytes. Establishes latency in CD34+ progenitor cells; reactivation occurs with immune compromise. Pathogenic effects include direct cytopathic injury (giant cells with 'owl's-eye' intranuclear inclusions), endothelial dysfunction, and immune-mediated damage.

Clinical presentation

Symptoms

  • Immunocompetent adults: heterophile-negative mononucleosis (prolonged fever, fatigue, mild hepatitis, lymphocytosis); pharyngitis and adenopathy less prominent than EBV
  • Congenital CMV: hearing loss (most common, often progressive and late-onset), microcephaly, intracranial calcifications (periventricular), chorioretinitis, hepatosplenomegaly, jaundice, petechiae ('blueberry muffin' rash), IUGR
  • Immunocompromised (especially HIV CD4 <50 or post-transplant): retinitis (floaters, painless vision loss), colitis (diarrhea, abdominal pain, GI bleeding), esophagitis (large solitary ulcers), pneumonitis (post-HSCT), encephalitis/polyradiculitis

Signs / physical exam

  • Hepatosplenomegaly; transaminitis
  • CMV retinitis: 'pizza pie' or 'cottage cheese with ketchup' appearance — yellow-white retinal infiltrates with hemorrhage on funduscopy
  • Congenital: small for gestational age, microcephaly, blueberry muffin rash, sensorineural hearing loss

Classic findings

CMV retinitis in advanced HIV (CD4 <50): perivascular hemorrhages with fluffy yellow-white exudates. Congenital CMV: periventricular calcifications (vs. diffuse intracranial calcifications in toxoplasmosis).

Differential diagnosis

  • EBV mononucleosis — Pharyngitis and prominent lymphadenopathy; positive heterophile and VCA IgM
  • Acute HIV — Trunk rash, oral ulcers, recent high-risk exposure; HIV RNA
  • Toxoplasmosis — Cat exposure, lymphadenopathy without pharyngitis; toxo IgM/IgG
  • Viral hepatitis — Marked transaminitis, jaundice; hepatitis A/B/C serologies
  • Drug-induced hepatitis — Recent medication; resolves with discontinuation
  • Other congenital infections (TORCH) — Toxoplasmosis, rubella, syphilis, HSV, Zika — overlapping features; targeted testing

Diagnostic workup

Diagnostic criteria

Congenital CMV: positive PCR on neonatal urine/saliva within 21 days of birth. End-organ disease: tissue biopsy with characteristic cytomegalic inclusions (owl's eye) and positive immunohistochemistry or PCR.

Labs

  • Immunocompetent: CMV IgM (acute) and IgG with avidity (low avidity supports primary infection); CMV PCR (viremia)
  • Immunocompromised: quantitative plasma CMV PCR (viral load monitoring guides preemptive therapy in transplant)
  • Tissue PCR or immunohistochemistry from biopsy (gold standard for end-organ disease — retina, colon, esophagus, lung)
  • Congenital: CMV PCR on neonatal urine or saliva within first 21 days of life (after 21 days cannot distinguish congenital from perinatal acquisition)
  • CBC, CMP, LFTs

Imaging

  • Head ultrasound or MRI for suspected congenital CMV — look for periventricular calcifications, ventriculomegaly, white matter abnormalities, polymicrogyria
  • Dilated funduscopy for retinitis screening if HIV CD4 <50
  • Endoscopy with biopsy for suspected GI CMV

Diagnostic algorithm

HostCommon SyndromeDiagnostic TestFirst-line Therapy
Healthy adultHeterophile-negative monoCMV IgM, PCRSupportive
Newborn (congenital)Hearing loss, calcificationsUrine/saliva PCR <21 daysValganciclovir x 6 mo if symptomatic
HIV CD4 <50Retinitis, colitis, esophagitisFunduscopy, tissue PCRIV ganciclovir → val maintenance
Post-transplantViremia, tissue-invasive diseaseQuantitative plasma PCRVal/ganciclovir; letermovir prophylaxis
CMV disease manifestations and management by host immune status.

Treatment

First-line

  • Immunocompetent: supportive care — antivirals not indicated
  • End-organ CMV disease (transplant, HIV): IV ganciclovir 5 mg/kg q12h induction × 14-21 days, then valganciclovir 900 mg PO daily maintenance
  • Valganciclovir 900 mg PO BID — oral option for many CMV syndromes including induction of mild-moderate retinitis
  • Congenital symptomatic CMV with CNS involvement or sensorineural hearing loss: valganciclovir 16 mg/kg PO BID × 6 months (improves hearing/developmental outcomes — Kimberlin NEJM 2015)

Second-line / adjunct

  • Foscarnet — ganciclovir resistance or marrow toxicity; nephrotoxic, electrolyte abnormalities
  • Cidofovir — third-line; significant nephrotoxicity
  • Letermovir — prophylaxis post-HSCT (terminase inhibitor; no marrow toxicity)
  • Maribavir — refractory/resistant CMV post-transplant (UL97 inhibitor)

Complications

  • Congenital: sensorineural hearing loss (progressive in 50%), developmental delay, seizures, cerebral palsy, vision loss
  • Post-transplant CMV: tissue-invasive disease, indirect effects (acute and chronic allograft rejection, opportunistic infections, post-transplant lymphoproliferative disorder)
  • HIV: blindness from retinitis, severe colitis, encephalitis
  • Guillain-Barre, hemolytic anemia, immune thrombocytopenia (rare in immunocompetent)

PANCE pearls

  • Heterophile-negative mononucleosis in an adult — order CMV serology and HIV testing.
  • Universal newborn CMV screening is gaining traction; in many states targeted testing of newborns who fail hearing screen.
  • Pregnancy: behavioral hygiene (handwashing after diapers, no sharing of utensils/cups with young children) reduces maternal seroconversion; hyperimmune globulin and antivirals studied but not standard.
  • Solid organ transplant donor+/recipient- (D+/R-) is the highest CMV risk combination — extended valganciclovir prophylaxis recommended.
  • Letermovir has displaced ganciclovir for CMV prophylaxis after allogeneic HSCT due to safety profile.

References

  • Kimberlin 2015 — Valganciclovir for symptomatic congenital cytomegalovirus disease (NEJM)
  • AST IDCOP 2019 — Cytomegalovirus in solid organ transplant recipients — Guidelines of the American Society of Transplantation
  • DHHS OI Guidelines — Guidelines for the Prevention and Treatment of Opportunistic Infections in Adults with HIV — CMV section

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