HTAAD: Unraveling the Molecular and Clinical Complexity of Heritable Thoracic Aortic Disease

Dear Colleagues,

Thoracic aortic aneurysms are relatively common in the general population. The rupture and/or dissection of these aneurysms are among the most feared complications and remain a leading cause of death in the developed world. The early clinical diagnosis of acute thoracic syndromes—including differential diagnosis with other cardiovascular and non-cardiovascular conditions—and appropriate management may reduce the burden of acute mortality.

Heritable thoracic aortic aneurysms and dissections (HTAADs) are classified into two categories, including syndromic—mostly rare multisystemic hereditary connective tissue disorders—and non-syndromic forms, in which an aortic aneurysm/dissection represents the primary, and often sole, clinical manifestation. Many associated genes have been identified in both categories, though several remain unknown. Therefore, even after clinical diagnosis, the diagnostic yield of genetic testing may be suboptimal.

The clinical context is crucial in these heterogeneous conditions, as some genes relate to both syndromic and non-syndromic forms, and a single gene may be associated with a spectrum of pathologies. Moreover, there is a phenotypic continuum between syndromic and non-syndromic HTAADs, with systemic manifestations that do not meet the diagnostic criteria for syndromic disorders and that test negative for known associated genes.

This Special Issue welcomes the submission of research articles on HTAADs that explore such scenarios using broad-spectrum genetic analyses (e.g., NGS, WES, and WGS) and genotype–phenotype correlations. Studies investigating pathogenic mechanisms using omics technologies (e.g., proteomics and metabolomics) are also relevant. Submissions reporting newly discovered genes, genotype–phenotype correlations in patient cohorts or specific families, in vitro tissue and cell studies, pathological anatomy analyses, imaging studies, and reviews are also welcome. Finally, contributions focused on iconodiagnostics in this clinical context will also be accepted.

Prof. Guglielmina Pepe
Prof. Dr. Rossella Fattori
Dr. Stefano Nistri
Prof. Dr. Yskert von Kodolitsch
Guest Editors

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