Aortic arch geometry predicts outcome in patients with Loeys-Dietz syndrome independent of the causative gene.
Maria Elisabetta MariucciLuca SpinardiSilvia StagniClaudio GrazianoLuigi LovatoDavide PaciniLuca Di MarcoLucio CaredduEmanuela AngeliCristina CiucaAnita WischmeijerGaetano GargiuloAndrea DontiPublished in: American journal of medical genetics. Part A (2020)
This study aimed to investigate the potential association between imaging features and cardiovascular outcomes in patients with Loeys–Dietz syndrome (LDS). We performed a retrospective cohort study of 36 patients with LDS and described cardiovascular events and imaging data. We observed different clinical courses in patients with LDS, irrespective of the causative gene. Angular or elongated aortic arch geometry correlated with aortic dissection (R = .39, p = .02), occurrence of the first cardiovascular event before 45 years of age (R = .36, p = .03), and the number of operations (R = 0.47, p = .004), but not with age (R = −.05, p = .79) or the causative gene (R = −0.04, p = .79). Relative absences of cardiovascular events at ages 20, 40, and 60 were 100, 75, and 56%, respectively, in patients with “romanesque” aortic arches, and 74, 39, and 21%, respectively, in patients with “gothic” and “elongated” aortic arches (p = .03). Angular or elongated aortic arch geometry is associated with early‐onset of disease and a worse cardiovascular outcome in LDS patients. Large multicenter studies are warranted to elucidate the impact of aortic arch morphology evaluation in clinical practice.
Keyphrases
- cardiovascular events
- aortic dissection
- early onset
- coronary artery disease
- cardiovascular disease
- copy number
- high resolution
- genome wide
- clinical practice
- late onset
- aortic valve
- end stage renal disease
- genome wide identification
- ejection fraction
- risk assessment
- left ventricular
- newly diagnosed
- case report
- type diabetes
- pulmonary artery
- dna methylation
- machine learning
- gene expression
- big data
- genome wide analysis
- fluorescence imaging
- patient reported outcomes
- climate change
- mass spectrometry
- atrial fibrillation
- pulmonary arterial hypertension