Machine-learning phenotypic classification of bicuspid aortopathy

J Thorac Cardiovasc Surg. 2018 Feb;155(2):461-469.e4. doi: 10.1016/j.jtcvs.2017.08.123. Epub 2017 Sep 14.

Abstract

Background: Bicuspid aortic valves (BAV) are associated with incompletely characterized aortopathy. Our objectives were to identify distinct patterns of aortopathy using machine-learning methods and characterize their association with valve morphology and patient characteristics.

Methods: We analyzed preoperative 3-dimensional computed tomography reconstructions for 656 patients with BAV undergoing ascending aorta surgery between January 2002 and January 2014. Unsupervised partitioning around medoids was used to cluster aortic dimensions. Group differences were identified using polytomous random forest analysis.

Results: Three distinct aneurysm phenotypes were identified: root (n = 83; 13%), with predominant dilatation at sinuses of Valsalva; ascending (n = 364; 55%), with supracoronary enlargement rarely extending past the brachiocephalic artery; and arch (n = 209; 32%), with aortic arch dilatation. The arch phenotype had the greatest association with right-noncoronary cusp fusion: 29%, versus 13% for ascending and 15% for root phenotypes (P < .0001). Severe valve regurgitation was most prevalent in root phenotype (57%), followed by ascending (34%) and arch phenotypes (25%; P < .0001). Aortic stenosis was most prevalent in arch phenotype (62%), followed by ascending (50%) and root phenotypes (28%; P < .0001). Patient age increased as the extent of aneurysm became more distal (root, 49 years; ascending, 53 years; arch, 57 years; P < .0001), and root phenotype was associated with greater male predominance compared with ascending and arch phenotypes (94%, 76%, and 70%, respectively; P < .0001). Phenotypes were visually recognizable with 94% accuracy.

Conclusions: Three distinct phenotypes of bicuspid valve-associated aortopathy were identified using machine-learning methodology. Patient characteristics and valvular dysfunction vary by phenotype, suggesting that the location of aortic pathology may be related to the underlying pathophysiology of this disease.

Keywords: aneurysm; aorta; valves.

MeSH terms

  • Adult
  • Aged
  • Aorta, Thoracic / diagnostic imaging*
  • Aorta, Thoracic / physiopathology
  • Aortic Aneurysm / classification
  • Aortic Aneurysm / diagnostic imaging*
  • Aortic Aneurysm / etiology
  • Aortic Aneurysm / physiopathology
  • Aortic Valve / abnormalities*
  • Aortic Valve / diagnostic imaging
  • Aortic Valve / physiopathology
  • Aortic Valve Insufficiency / diagnostic imaging
  • Aortic Valve Insufficiency / etiology
  • Aortic Valve Insufficiency / physiopathology
  • Aortic Valve Stenosis / diagnostic imaging
  • Aortic Valve Stenosis / etiology
  • Aortic Valve Stenosis / physiopathology
  • Aortography / methods*
  • Bicuspid Aortic Valve Disease
  • Computed Tomography Angiography / methods*
  • Cross-Sectional Studies
  • Diagnosis, Computer-Assisted / methods*
  • Female
  • Heart Valve Diseases / classification
  • Heart Valve Diseases / complications
  • Heart Valve Diseases / diagnostic imaging*
  • Heart Valve Diseases / physiopathology
  • Humans
  • Machine Learning*
  • Male
  • Middle Aged
  • Pattern Recognition, Automated
  • Phenotype
  • Predictive Value of Tests
  • Radiographic Image Interpretation, Computer-Assisted / methods*
  • Reproducibility of Results
  • Sinus of Valsalva / diagnostic imaging*
  • Sinus of Valsalva / physiopathology