Counseling Family Members and Monitoring for Evidence of Disease in Asymptomatic Carriers of Amyloid Transthyretin Cardiac Amyloidosis.

Transthyretin (TTR), a plasma transport protein produced in the liver, is prone to misfolding, leading to the deposition of amyloid fibrils and progressive dysfunction of cardiac and nervous system tissues, a condition known as amyloid TTR (ATTR) amyloidosis. More than 140 different pathogenic variants in TTR have been documented, most of which cause hereditary forms of ATTR amyloidosis. The most common mutations, traditionally known as Val30Met, Val122Ile, and Thr60Ala, lead to predominantly sensory, motor, and autonomic neuropathies, cardiomyopathy, and mixed presentations, respectively, although each mutation may cause symptoms across the neurologic and cardiac spectrum. Val30Met is endemic to Brazil, Japan, Portugal, and Sweden. The Val122Ile variant is present in 3.4% of people with West African ancestry, whereas Thr60Ala originated in northwestern Ireland and spread to the rest of the United Kingdom, the United States, and elsewhere. Val30Met and Thr60Ala tend to have more aggressive clinical presentations at younger ages, whereas Val122Ile predominantly affects older Black men. Due to similarities with hypertrophic cardiomyopathy, heart failure with preserved ejection fraction, and other overlapping conditions, ATTR cardiomyopathy is often under recognized and underdiagnosed, especially in Val122Ile carriers. Understanding these carrier populations and differences in ATTR amyloidosis characteristics associated with each variant is essential for appropriate diagnosis and genetic counseling of affected patients and their relatives.

Transmission of vaccinia virus, possibly through sexual contact, to a woman at high risk for adverse complications.

Severe adverse events, including eczema vaccinatum (EV), can result after smallpox vaccination. Persons at risk for EV include those with underlying dermatologic conditions, such as atopic dermatitis. We investigated a case of vaccinia infection, possibly acquired during sexual contact with a recently vaccinated military service member, in a female Maryland resident with atopic dermatitis. The U.S. Department of Defense's Vaccine Healthcare Centers Network (VHCN) and the Centers for Disease Control and Prevention (CDC) worked in conjunction with the patient's physician and the Maryland Department of Health and Mental Hygiene (DHMH) to confirm the diagnosis, ensure treatment, and prevent further transmission. Specimens collected from the patient were tested at the DHMH laboratories and were positive by real-time polymerase chain reaction for nonvariola orthopoxvirus. Testing at the CDC verified the presence of vaccinia-specific DNA signatures. Continuing spread of the patient's lesions led to the administration of vaccinia immune globulin and strict infection control measures to prevent tertiary transmission to vulnerable family members, also with atopic dermatitis. VHCN contacted the service member to reinforce vaccination site care and hygiene. This case underscores the importance of prevaccination education for those receiving the smallpox vaccine to protect contacts at risk for developing severe adverse reactions.