Delayed diagnosis of Loeys-Dietz syndrome revealed through atrial septal defect with pulmonary artery dilation.
Karina Del Valle ZamoraMaria Fernanda Fernandez-SandovalVictor Alejandro Quiroz-Martinez-MartinezJacobo Sebastian Vera-ChavezPavel Martinez-DominguezNilda Espinola-ZavaletaPublished in: Echocardiography (Mount Kisco, N.Y.) (2024)
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.
Keyphrases
- pulmonary artery
- pulmonary hypertension
- coronary artery
- transforming growth factor
- pulmonary arterial hypertension
- atrial fibrillation
- end stage renal disease
- left atrial
- epithelial mesenchymal transition
- newly diagnosed
- ejection fraction
- catheter ablation
- case report
- single cell
- prognostic factors
- high resolution
- chronic kidney disease
- left ventricular
- peritoneal dialysis
- high intensity
- heart failure
- pulmonary embolism
- patient reported outcomes
- binding protein
- climate change
- mass spectrometry
- palliative care
- signaling pathway
- risk assessment
- advanced cancer
- fluorescence imaging
- lower limb