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Late Loeys-Dietz Syndrome Diagnosis in an Adolescent With Severe Phenotype
Lorraine James1, Nazia Husain1, Sarah Jurgensmeyer Langas1
1Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA; Northwestern Feinberg School of Medicine, Chicago, Illinois, USA.
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.
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