Late Loeys-Dietz Syndrome Diagnosis in an Adolescent With Severe Phenotype

JACC Case Rep. 2025 Sep 10:105357. doi: 10.1016/j.jaccas.2025.105357. Online ahead of print.

ABSTRACT

BACKGROUND: Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder (CTD) with musculoskeletal, craniofacial, and cardiovascular features with a prevalence of approximately 1:50,000. Morbidity and mortality often occur earlier in patients with LDS compared to patients with other CTDs.

CASE SUMMARY: We present a teenager with subacute heart failure, 4/6 holosystolic murmur with diastolic rumble, facial differences, and arachnodactyly. She had genotype-positive, phenotype-positive LDS including an atrial septal defect, severely dilated great arteries/ventricles, and depressed systolic function, requiring prompt medical and surgical therapy.

DISCUSSION: To our knowledge, this is the first case of LDS with such dramatic atrial and ventricular dilation, likely the result of shunting, valve regurgitation, and underlying CTD.

TAKE-HOME MESSAGES: LDS can be aggressive in young patients; screening and diagnosis should be prompt when LDS is suspected. Elective repair of the aorta is indicated at smaller absolute diameters in LDS. Intervention lowers risk of a sudden, potentially life-ending cardiac event.

PMID:40928443 | DOI:10.1016/j.jaccas.2025.105357