Late Loeys-Dietz syndrome diagnosis in an adolescent with severe phenotype
Recommended Citation
James L, Husain N, Langas SJ, Baker J, McMillan KN, Vricella L, Camarda J. Late Loeys-Dietz Syndrome Diagnosis in an Adolescent With Severe Phenotype. JACC Case Rep. 2025 Oct 15;30(32):105357. doi: 10.1016/j.jaccas.2025.105357. Epub 2025 Sep 10. PMID: 40928443.
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.
Type
Article
PubMed ID
40928443
Affiliations
Advocate Children's Hospital Chicago