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

## TL;DR

This paper reports a rare case of Loeys-Dietz syndrome in a teenager with severe heart issues and highlights the importance of early diagnosis and treatment.

## Contribution

The paper presents the first reported case of LDS with extreme atrial and ventricular dilation.

## Key findings

- The patient had severe LDS features including heart failure and dilated arteries.
- Prompt medical and surgical intervention was necessary due to the aggressive nature of the condition.
- Early diagnosis and treatment are critical to prevent life-threatening cardiac events in LDS patients.

## Abstract

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.

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.

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.

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.