Mac Imaging Committee

The MAC Imaging Committee serves as a cross-cutting scientific engine for collaborative, image-based investigation of heritable thoracic aortic disease (HTAD). The Committee’s mission is to leverage the depth of MAC’s international registry and imaging resources to generate reproducible, genotype-informed insights into cardiovascular structure, function, and disease progression.

The Committee has three primary objectives. 

  • First, it facilitates multi-center collaborative research projects focused on quantitative imaging phenotypes derived from echocardiography, CT, and MRI across the MAC cohort. 
  • Second, it performs rigorous genotype–phenotype analyses linking cardiac and aortic morphology to the underlying mutated HTAD gene, enabling gene-specific characterization of valvular and aortic disease expression. 
  • Third, it develops and validates novel image-analysis approaches as potential biomarkers of HTAD severity, progression, and clinical risk, with the long-term goal of improving individualized risk stratification and surveillance.

Several major imaging projects have already been completed through this framework. A comprehensive MAC analysis of mitral annular disjunction (MAD) demonstrated gene-specific enrichment of pathological mitral phenotypes, particularly among individuals with pathogenic variants in TGF-β pathway genes, establishing mitral imaging features as important extracardiac manifestations of HTAD. In parallel, a large MAC study of bicuspid aortic valve (BAV) defined its prevalence, genotype associations, and impact on aortic outcomes, showing accelerated aortic disease without increased dissection risk in selected genetic contexts.

An ongoing flagship initiative of the Imaging Committee is the Aortic Pre-Dissection Imaging Collaborative (A-PIC), which aims to identify imaging biomarkers that precede aortic dissection or predict stability versus progression. A-PIC aggregates pre-dissection CT and MR imaging across MAC sites, applies standardized de-identification and cloud-based workflows, and supports gene-stratified analyses and novel analytic method development.

Investigators with an interest in cardiovascular imaging, HTAD phenotyping, or method development are encouraged to participate. To learn more or to join the MAC Imaging Committee, please contact Siddharth K. Prakash, MD, PhD