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- Title
Delayed diagnosis of Loeys‐Dietz syndrome revealed through atrial septal defect with pulmonary artery dilation.
- Authors
Zamora, Karina Del Valle; Fernandez‐Sandoval, Maria Fernanda; Quiroz‐Martinez‐Martinez, Victor Alejandro; Vera‐Chavez, Jacobo Sebastian; Martinez‐Dominguez, Pavel; Espinola‐Zavaleta, Nilda
- Abstract
Loeys‐Dietz syndrome (LDS) is an autosomal‐dominant connective tissue disorder associated with mutations in the transforming growth factor β receptor. It is characterized by distinctive craniofacial changes, skeletal features, and cardiovascular complications. We present a case of a 24‐year‐old male with development delay and a one‐year history of progressively worsening dyspnea on moderate exertion and orthopnea. Echocardiography revealed right atrial and right ventricle dilation, right ventricle hypertrophy, atrial septal defect, and aneurysmal dilation of the pulmonary artery trunk. This case underscores the importance of early detection and comprehensive imaging in patients suspected of having LDS, particularly considering the potential for atypical vascular manifestations.
- Subjects
ANEURYSMS; PULMONARY artery; ATRIAL septal defects; LOEYS-Dietz syndrome; RIGHT heart atrium; DELAYED diagnosis; DYSPNEA; RIGHT heart ventricle; EARLY diagnosis; SYMPTOMS
- Publication
Echocardiography, 2024, Vol 41, Issue 6, p1
- ISSN
0742-2822
- Publication type
Article
- DOI
10.1111/echo.15851