Familial Thoracic Aortic Aneurysm and Aortic Dissection

1. Disease Information

1.1 Concise overview / definition

• HTAD definition (used clinically to encompass FTAAD): HTAD comprises disorders characterized by “aortic events, mainly represented by aneurysm or dissection,” usually involving the ascending aorta; disease may be non-syndromic (limited to aorta) or syndromic (extra-aortic features) (monda2023theroleof pages 1-3).
• Familial/non-syndromic component: 20–25% of patients with non-syndromic HTAD exhibit a family history of aortic disease, requiring evaluation of first-degree relatives to distinguish familial from sporadic cases (monda2023theroleof pages 1-3, butnariu2024identificationofgenetic pages 2-4).

1.2 Key identifiers (available in retrieved evidence)

• MONDO: MONDO:0019625 (familial thoracic aortic aneurysm and aortic dissection) (isselbacher20222022accahaguideline pages 23-24)
• Related MONDO familial-thoracic-aortic-aneurysm entities observed in Open Targets snapshot:
• MONDO:0012730 (aortic aneurysm, familial thoracic 6; ACTA2-related) (isselbacher20222022accahaguideline pages 23-24)
• MONDO:0007568 (aortic aneurysm, familial thoracic 4; MYH11-related) (isselbacher20222022accahaguideline pages 23-24)
• MONDO:0013418 (aortic aneurysm, familial thoracic 7; MYLK-related) (isselbacher20222022accahaguideline pages 23-24)

Not retrieved in the current document set: OMIM disease-number(s), Orphanet ID, ICD-10/ICD-11, and MeSH terms specific to “familial thoracic aortic aneurysm and dissection.” (These typically exist but were not present in the tool-retrieved excerpts; see limitations.)

1.3 Common synonyms / alternative names

• Heritable thoracic aortic disease (HTAD) (monda2023theroleof pages 1-3, isselbacher20222022accahaguideline pages 23-24)
• Genetically triggered thoracic aortic disease (used in clinical review context) (duarte2023geneticallytriggeredthoracic pages 1-3)
• Non-syndromic heritable thoracic aortic aneurysm/dissection (ns-TAAD / ns-HTAD) (levy2024currentunderstandingof pages 1-3, levy2024currentunderstandingof pages 3-5)

1.4 Evidence type / provenance

• Aggregated disease-level resources and expert consensus: 2022 ACC/AHA guideline (JACC; published Oct 2022; https://doi.org/10.1016/j.jacc.2022.08.004) (isselbacher20222022accahaguideline pages 23-24)
• Peer-reviewed narrative reviews (2023–2024): clinical genetics/testing and phenotype summaries (monda2023theroleof pages 1-3, duarte2023geneticallytriggeredthoracic pages 1-3, spaziani2024hereditarythoracicaortic pages 1-2)
• Human cohort sequencing evidence (2024): deep sequencing study in nonsyndromic adults (chen2024contributionsofgermline pages 1-2)

2. Etiology

2.1 Disease causal factors

Primary cause: germline pathogenic variants affecting aortic wall integrity pathways, with additional contribution from non-genetic risk factors. - The 2022 ACC/AHA guideline identifies a pathogenic variant in genes predisposing to thoracic aortic disease as a “major risk factor” and recommends genetic testing for patients with aortic root/ascending aneurysm or dissection plus HTAD risk factors (Table 8/Figure 17 referenced) (isselbacher20222022accahaguideline pages 23-24).

2.2 Risk factors

Genetic risk factors (high-penetrance Mendelian genes)

The 2022 ACC/AHA guideline excerpt lists 11 genes “confirmed to confer a highly penetrant risk for TAD”: - FBN1, LOX, COL3A1, TGFBR1, TGFBR2, SMAD3, TGFB2, ACTA2, MYH11, MYLK, PRKG1 (isselbacher20222022accahaguideline pages 23-24).

Additional genes are highlighted in 2023–2024 reviews as part of syndromic HTAD (e.g., Loeys–Dietz spectrum genes SMAD2, TGFB3) (duarte2023geneticallytriggeredthoracic pages 1-3) and broader thoracic-aortic-disease genetics (e.g., NOTCH1, MFAP5) (butnariu2024identificationofgenetic pages 4-5).

Environmental/clinical risk factors

A 2024 review notes additional risk factors for thoracic aortic aneurysm including hypertension, smoking, hypercholesterolemia, male sex, older age (>65 years), and bicuspid aortic valve (butnariu2024identificationofgenetic pages 4-5).

2.3 Protective factors

• Evidence gap: The ACC/AHA guideline notes growing interest in biomarkers and other predictors, but “biomarker expression has not been clearly associated with relevant clinical aortic events” and emphasizes limited randomized trial evidence for prevention strategies (isselbacher20222022accahaguideline pages 140-142).

2.4 Gene–environment interactions

• Current understanding: The ACC/AHA guideline explicitly notes that “environmental factors and lifestyle habits may contribute to aortic aneurysm formation” in addition to genetic variants, and highlights medication exposures (e.g., fluoroquinolones) as potentially increasing risk, with mechanisms still uncertain (isselbacher20222022accahaguideline pages 140-142).

3. Phenotypes (clinical spectrum)

3.1 Core vascular phenotype (FTAAD / ns-HTAD)

• Key features: thoracic aortic aneurysm (TAA), rapid aneurysm growth in some families, and acute type A dissection; familial expression is variable and dissections can occur at diameters <5.0 cm in some families (isselbacher20222022accahaguideline pages 23-24, levy2024currentunderstandingof pages 3-5).

HPO term suggestions (vascular): - Thoracic aortic aneurysm; Aortic aneurysm; Aortic dissection; Ascending aortic aneurysm; Aortic root dilatation; Rapid aneurysm progression.

3.2 Syndromic HTAD phenotype examples (useful for differential diagnosis)

Because “HTAD can be classified as non-syndromic… and syndromic when associated with extra-aortic features,” syndromic features are important to recognize when labeling a case as FTAAD vs syndromic HTAD (monda2023theroleof pages 1-3).

Marfan syndrome (FBN1): - Aortic root dilatation (Z-score ≥2), dissection; extra-aortic features include ectopia lentis, skeletal abnormalities, dural ectasia; mitral valve prolapse reported as >50% in one review summary; branch aneurysms reported in about one-quarter; descending/abdominal involvement in 10–20% (monda2023theroleof pages 3-4).

Loeys–Dietz syndrome (TGFBR1/2, SMAD2/3, TGFB2/3): - Arterial tortuosity, hypertelorism, bifid uvula/cleft palate; higher dissection risk; complications can occur at smaller diameters (duarte2023geneticallytriggeredthoracic pages 1-3, spaziani2024hereditarythoracicaortic pages 2-4).

Vascular Ehlers–Danlos (COL3A1): - Severe arterial fragility/rupture; reduced median life expectancy in one summary (~51 years) (monda2023theroleof pages 4-6).

HPO term suggestions (syndromic flags): - Ectopia lentis; Scoliosis; Pectus excavatum/carinatum; Joint hypermobility; Dural ectasia; Hypertelorism; Arterial tortuosity; Bifid uvula; Cleft palate; Easy bruising; Thin/translucent skin.

3.3 Age of onset, severity, progression

• HTAD clinical course can range “from… early-onset and aggressive to… late-onset, indolent aortic disease,” and age at onset of acute syndromes can vary even among carriers of the same pathogenic mutation (monda2023theroleof pages 1-3).
• Familial disease is typically autosomal dominant with decreased penetrance, “particularly in women,” and shows variable expression including varying age of onset and increased frequency of dissection at diameter <5.0 cm in some families (isselbacher20222022accahaguideline pages 23-24).

3.4 Quality-of-life (QoL)

• The 2022 ACC/AHA guideline states baseline HRQOL assessment in aortic disease is limited; evidence for QoL in “heritable TAA” is “narrow or limited only to patients with Marfan syndrome,” and scattered data exist for psychological interventions (isselbacher20222022accahaguideline pages 140-142).

4. Genetic/Molecular Information

4.1 Causal genes (curation-ready)

The most guideline-central “highly penetrant” HTAD genes are the 11-gene set listed above (isselbacher20222022accahaguideline pages 23-24). A 2024 HTAD genetics table further lists syndromic and non-syndromic genes with OMIM gene entries and inheritance patterns, including examples such as FBN1 (AD), TGFBR2 (AD), TGFBR1 (AD), SMAD3 (AD), COL3A1 (AD), SLC2A10 (AR), MYH11 (AD), MYLK (AD), PRKG1 (AD), MFAP5 (AD), LOX (AD), ACTA2 (AD) (butnariu2024identificationofgenetic pages 2-4, butnariu2024identificationofgenetic pages 4-5).

4.2 Pathogenic variant types / classification

• The 2022 guideline notes laboratories classify variants as “pathogenic, likely pathogenic, variant of uncertain/unknown significance, benign, and likely benign,” and that VUS should not be used to determine risk or guide management (isselbacher20222022accahaguideline pages 24-26).

4.3 Penetrance and expressivity

• HTAD in families is “typically inherited in an autosomal dominant manner, with decreased penetrance, particularly in women,” and exhibits variable expression (isselbacher20222022accahaguideline pages 23-24).

4.4 Recent development: mosaicism and broadened genetic architecture (2024)

A 2024 single-center study of nonsyndromic adults (<60 years) using deep sequencing reported: - Likely genetic causes in 24% (21% germline; 3% somatic mosaic) and enrichment vs controls for germline variants (OR 2.44) and somatic mosaic variants (OR 4.71) (chen2024contributionsofgermline pages 1-2).

4.5 Modifier genes / epigenetics / chromosomal abnormalities

• Not established from retrieved excerpts. Some reviews note genetic complexity and future directions, but specific modifier genes/epigenetic signatures were not extractable from the current tool-retrieved text set (isselbacher20222022accahaguideline pages 140-142).

5. Environmental Information

• Traditional vascular risk factors (hypertension, smoking, hypercholesterolemia, age/sex) are summarized for TAA risk (butnariu2024identificationofgenetic pages 4-5).
• The 2022 guideline highlights emerging evidence linking fluoroquinolone use to increased aneurysm/dissection risk, with unclear mechanisms (isselbacher20222022accahaguideline pages 140-142).

6. Mechanism / Pathophysiology

6.1 Core histopathology and tissue-level mechanism

A 2024 review describes thoracic aneurysm histopathology as: - “medial cystic necrosis with fragmentation and focal loss of elastic fibers… accompanied by a decrease in vascular smooth muscle cells (VSMCs) and an increase in proteoglycans” (butnariu2024identificationofgenetic pages 4-5).

6.2 Key molecular pathway axes

1) TGF-β signaling dysregulation (LDS spectrum; also overlaps broader HTAD): - Pathogenic mutations in TGFBR1/TGFBR2 are described as causing a “pathological shift towards increased extracellular matrix degradations,” contributing to aneurysm formation and susceptibility to rupture (monda2023theroleof pages 1-3).

2) Extracellular matrix (ECM) structural failure: - Genes such as FBN1, LOX, COL3A1, MFAP5 affect microfibrils/collagen/crosslinking and aortic wall integrity (isselbacher20222022accahaguideline pages 23-24, butnariu2024identificationofgenetic pages 4-5).

3) VSMC contractile apparatus / elastin–contractile unit disruption: - Mutations in ACTA2, MYH11, MYLK, PRKG1 are cited as impacting VSMC adhesion/contraction and the “elastin contractile unit,” weakening the aortic wall (butnariu2024identificationofgenetic pages 4-5).

6.3 Upstream→downstream causal chain (knowledge-base ready)

• Trigger: germline pathogenic variant (or mosaic) affecting ECM/TGF-β/VSMC contractile genes (isselbacher20222022accahaguideline pages 23-24, chen2024contributionsofgermline pages 1-2)
• Cellular/tissue changes: VSMC dysfunction/loss, elastin fragmentation, proteoglycan accumulation, ECM degradation (butnariu2024identificationofgenetic pages 4-5)
• Organ-level phenotype: progressive thoracic aortic dilatation; risk of dissection/rupture, sometimes at smaller diameters than expected (butnariu2024identificationofgenetic pages 2-4, levy2024currentunderstandingof pages 3-5)

6.4 Ontology suggestions

• GO Biological Process (suggestions): extracellular matrix organization; elastic fiber formation; smooth muscle contraction; transforming growth factor beta receptor signaling pathway.
• CL cell types (suggestions): vascular smooth muscle cell.
• UBERON anatomy (suggestions): thoracic aorta; ascending aorta; aortic root.

7. Anatomical Structures Affected

• Primary: aortic root and ascending aorta are emphasized in guideline testing indications and HTAD surveillance context (isselbacher20222022accahaguideline pages 23-24).
• Additional vascular beds: reviews note peripheral/intracranial aneurysms as part of family history/risk assessment and gene-specific associations (e.g., TGFBR2 and other arterial aneurysms) (isselbacher20222022accahaguideline pages 23-24, isselbacher20222022accahaguideline pages 24-26).

UBERON suggestions: thoracic aorta; ascending aorta; aortic root; intracranial artery.

8. Temporal Development

• Onset pattern: asymptomatic dilation often discovered incidentally; acute dissection can be first presentation and may be fatal (duarte2023geneticallytriggeredthoracic pages 1-3).
• Progression: progressive dilation determines prognosis (monda2023theroleof pages 1-3).

9. Inheritance and Population

9.1 Epidemiology / burden

• Incidence: population study summarized in 2023 review: thoracic aortic aneurysm incidence 10.4 per 100,000 person-years (duarte2023geneticallytriggeredthoracic pages 1-3).
• Sex: same review notes 51% of thoracic aneurysm patients were women, recognized at older ages than men (duarte2023geneticallytriggeredthoracic pages 1-3).
• Mortality: thoracic dissection is highly lethal; a 2024 review summarizes pre-hospital mortality “up to 61%” and ~50% mortality within 30 days; emergent repair ~20% vs elective ~3% (levy2024currentunderstandingof pages 1-3).
• US deaths/year: nonsyndromic TAA paper notes ~“nearly 10,000 deaths in the United States per year” (chen2024contributionsofgermline pages 1-2).

9.2 Familiality and inheritance

• Among TAD patients without Marfan/LDS features, “13% to 20%… have similarly affected first-degree relatives,” and inheritance is “typically… autosomal dominant… decreased penetrance” (isselbacher20222022accahaguideline pages 23-24).
• Reviews similarly estimate ~20–25% of non-syndromic HTAD cases have positive family history (monda2023theroleof pages 1-3, butnariu2024identificationofgenetic pages 2-4).

10. Diagnostics

10.1 Genetic testing (who to test; what test)

Guideline-centered clinical workflow (ACC/AHA 2022): 1) Obtain multigenerational family history of TAD, sudden deaths, and peripheral/intracranial aneurysms (isselbacher20222022accahaguideline pages 23-24). 2) For patients with aortic root/ascending aneurysm or dissection plus HTAD risk factors (Table 8/Figure 17 referenced), perform genetic testing for pathogenic/likely pathogenic variants (isselbacher20222022accahaguideline pages 23-24). 3) Use multigene panel testing as “most cost-effective and clinically useful” approach; manage and cascade-test based on pathogenic/likely pathogenic variants only (isselbacher20222022accahaguideline pages 23-24). 4) VUS should not guide family risk stratification (isselbacher20222022accahaguideline pages 24-26).

Imaging modalities for relatives: - Aortic imaging with TTE if adequate visualization; otherwise CT or MRI (isselbacher20222022accahaguideline pages 23-24). - If at-risk relatives have negative initial imaging, suggested repeat imaging is ~5 years in younger relatives and ~10 years in older relatives (isselbacher20222022accahaguideline pages 24-26).

NGS modalities in current practice: gene panels, WES, WGS increasingly used for heterogeneous HTAD etiologies (butnariu2024identificationofgenetic pages 2-4).

10.2 Differential diagnosis considerations

• Distinguish non-syndromic familial disease from syndromic HTAD (Marfan, LDS, vEDS) based on extra-aortic features and gene findings (monda2023theroleof pages 1-3, duarte2023geneticallytriggeredthoracic pages 1-3).

11. Outcome / Prognosis

• Prognosis in HTAD is determined by progressive aortic dilation leading to acute aortic events (dissection/rupture), and varies by underlying mutation (monda2023theroleof pages 1-3).
• High lethality of dissection and large differences between emergent vs elective operative mortality support aggressive prevention and surveillance strategies (levy2024currentunderstandingof pages 1-3).

12. Treatment

12.1 Surgical thresholds (available in retrieved excerpts)

• A 2024 review summarizing the 2022 guideline indicates prophylactic repair thresholds of ≥5.0 cm for asymptomatic low-risk individuals and ≥4.5 cm for high-risk individuals (levy2024currentunderstandingof pages 9-10).
• A 2023 review provides Marfan-specific thresholds: aortic sinus ≥50 mm or ≥45 mm with risk factors (monda2023theroleof pages 4-6).

Important limitation: The gene-specific thresholds table(s) referenced in the guideline (Table 8/Figure 17) could not be retrieved from the available excerpts or via image tools (isselbacher20222022accahaguideline pages 23-24).

12.2 Medical therapy / supportive care

• The ACC/AHA guideline emphasizes individualized exercise recommendations based on pathology, aortic diameter, growth rate, family history, and other high-risk features (isselbacher20222022accahaguideline pages 139-140).
• Post-aortic surgery cardiac rehabilitation can be useful; one recommendation is 3–5 METs, avoiding strenuous lifting/exhaustion (isselbacher20222022accahaguideline pages 139-140).

12.3 Pharmacotherapy evidence example (vEDS)

• For vascular Ehlers–Danlos syndrome, a review summary reports trial evidence that celiprolol reduced arterial events (20% vs 50%) (monda2023theroleof pages 4-6).

12.4 Trials / experimental directions (ClinicalTrials.gov signals)

Interventional trials identified by search included, for example: - NCT05401500 (Familial Aortopathies and Cellular Exploration) (trial retrieved in tool run) - NCT05472519 (Immunopathology of Loeys-Dietz Syndrome) (trial retrieved) - NCT05809323 (Marfan Syndrome Moderate Exercise Trial II) (trial retrieved) - NCT07495267 (Nutritional Ketosis Marfan; not yet recruiting) (trial retrieved)

(Trial text chunks were retrieved by the tool, but detailed endpoints/results were not extracted in the present evidence set.)

12.5 MAXO suggestions (treatments/actions)

• Prophylactic aortic surgery; Aortic imaging surveillance; Genetic testing; Genetic counseling; Cascade screening; Exercise counseling / cardiac rehabilitation.

13. Prevention

• Secondary prevention: family-based genetic testing and cascade imaging is strongly recommended by ACC/AHA 2022 (isselbacher20222022accahaguideline pages 23-24).
• Lifestyle/behavioral: individualized exercise counseling; avoid maximal exertion/strenuous lifting; cardiac rehab post-surgery (isselbacher20222022accahaguideline pages 139-140).

14. Other Species / Natural Disease

• Not available from retrieved evidence.

15. Model Organisms

• The ACC/AHA guideline cites mouse Marfan studies where mild/moderate (not strenuous) aerobic exercise protected the aortic wall, with reduced elastin fragmentation and reduced MMP2/9 expression vs sedentary controls (isselbacher20222022accahaguideline pages 139-140).

Recent developments and real-world implementations (prioritizing 2023–2024)

1) Expanded genetic architecture in nonsyndromic adults (2024): deep (>500×) sequencing identifies germline and mosaic contributions, supporting broader genetic evaluation beyond classic syndromic testing paradigms (chen2024contributionsofgermline pages 1-2). 2) Point-of-care decision support (2023–2024): a REDCap-based “Genomic Medicine Guidance” tool integrates ClinVar/ClinGen and guideline recommendations and curates thousands of pathogenic variants (reported 2,286 unique pathogenic mutations across 13 genes) to deliver gene-informed surveillance/therapy guidance in clinical workflows (patil2024developmentandassessment pages 1-5).

Direct abstract quotes (for evidence anchoring): - “Heritable thoracic aortic disease (HTAD) is a term used to define a large group of disorders characterized by the occurrence of aortic events, mainly represented by aneurysm or dissection.” (Monda 2023; Diagnostics; published 17 Feb 2023; https://doi.org/10.3390/diagnostics13040772) (monda2023theroleof pages 1-3) - “Likely genetic causes were present in 24% with nonsyndromic TAA, of which 21% arose from germline variants and 3% from somatic mosaic alleles.” (Chen 2024; JAHA; published 2024; https://doi.org/10.1161/JAHA.123.033232) (chen2024contributionsofgermline pages 1-2) - “Up to 25% of patients with thoracic aortic disease have an underlying Mendelian pathogenic variant.” (Duarte 2023; Methodist DeBakey Cardiovasc J; published 2023; https://doi.org/10.14797/mdcvj.1218) (duarte2023geneticallytriggeredthoracic pages 1-3)

Curator-oriented summary table

Table: This table summarizes the core disease concept identifiers, major causal genes grouped by biological pathway, and key recent epidemiologic statistics for familial/heritable thoracic aortic aneurysm and dissection. It is designed as a compact curation aid for building a disease knowledge base entry.

Limitations of this tool-based report (important for knowledge-base curation)

1) Ontology identifiers: beyond MONDO, this evidence set did not contain explicit OMIM disease IDs, Orphanet IDs, ICD-10/ICD-11 codes, or MeSH terms for the specific “familial thoracic aortic aneurysm and dissection” concept. 2) Gene-specific surgical thresholds: the ACC/AHA guideline excerpt references Table 8/Figure 17 for HTAD risk factors and gene-informed management; however, the tool could not retrieve the relevant images/tables, preventing extraction of the complete gene-specific threshold matrix. 3) Primary mechanistic PMIDs: mechanistic statements are supported by recent reviews/guidelines in this evidence set, but the underlying primary experimental PMIDs were not consistently present in the retrieved chunks for direct citation.

Key source URLs (publication dates as available in evidence)

• Isselbacher et al. 2022 ACC/AHA Aortic Disease Guideline (JACC; Oct 2022): https://doi.org/10.1016/j.jacc.2022.08.004 (isselbacher20222022accahaguideline pages 23-24)
• Monda et al. 2023-02-17 (Diagnostics): https://doi.org/10.3390/diagnostics13040772 (monda2023theroleof pages 1-3)
• Duarte et al. 2023 (Methodist DeBakey Cardiovasc J): https://doi.org/10.14797/mdcvj.1218 (duarte2023geneticallytriggeredthoracic pages 1-3)
• Spaziani et al. 2024-01 (Diagnostics): https://doi.org/10.3390/diagnostics14010112 (spaziani2024hereditarythoracicaortic pages 1-2)
• Levy et al. 2024-01 (Vessel Plus): https://doi.org/10.20517/2574-1209.2023.55 (levy2024currentunderstandingof pages 1-3)
• Chen et al. 2024-07 (JAHA): https://doi.org/10.1161/JAHA.123.033232 (chen2024contributionsofgermline pages 1-2)
• Butnariu et al. 2024-10 (Int J Mol Sci): https://doi.org/10.3390/ijms252011173 (butnariu2024identificationofgenetic pages 2-4)
• Patil et al. 2023-12-28 (JMIR preprint): https://doi.org/10.2196/preprints.55903 (patil2024developmentandassessment pages 1-5)

References

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8. (chen2024contributionsofgermline pages 1-2): Ming Hui Chen, Ellen S. Deng, Jessica M. Yamada, Sangita Choudhury, Julia Scotellaro, Lily Kelley, Eric Isselbacher, Mark E. Lindsay, Christopher A. Walsh, and Ryan N. Doan. Contributions of germline and somatic mosaic genetics to thoracic aortic aneurysms in nonsyndromic individuals. Journal of the American Heart Association, Jul 2024. URL: https://doi.org/10.1161/jaha.123.033232, doi:10.1161/jaha.123.033232. This article has 4 citations.

9. (butnariu2024identificationofgenetic pages 4-5): Lăcrămioara Ionela Butnariu, Georgiana Russu, Alina-Costina Luca, Constantin Sandu, Laura Mihaela Trandafir, Ioana Vasiliu, Setalia Popa, Gabriela Ghiga, Laura Bălănescu, and Elena Țarcă. Identification of genetic variants associated with hereditary thoracic aortic diseases (htads) using next generation sequencing (ngs) technology and genotype–phenotype correlations. International Journal of Molecular Sciences, 25:11173, Oct 2024. URL: https://doi.org/10.3390/ijms252011173, doi:10.3390/ijms252011173. This article has 4 citations.

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11. (monda2023theroleof pages 3-4): Emanuele Monda, Michele Lioncino, Federica Verrillo, Marta Rubino, Martina Caiazza, Alfredo Mauriello, Natale Guarnaccia, Adelaide Fusco, Annapaola Cirillo, Simona Covino, Ippolita Altobelli, Gaetano Diana, Giuseppe Palmiero, Francesca Dongiglio, Francesco Natale, Arturo Cesaro, Eduardo Bossone, Maria Giovanna Russo, Paolo Calabrò, and Giuseppe Limongelli. The role of genetic testing in patients with heritable thoracic aortic diseases. Diagnostics, 13:772, Feb 2023. URL: https://doi.org/10.3390/diagnostics13040772, doi:10.3390/diagnostics13040772. This article has 19 citations.

12. (spaziani2024hereditarythoracicaortic pages 2-4): Gaia Spaziani, Francesca Chiara Surace, Francesca Girolami, Francesco Bianco, Valentina Bucciarelli, Francesca Bonanni, Elena Bennati, Luigi Arcieri, and Silvia Favilli. Hereditary thoracic aortic diseases. Diagnostics, 14:112, Jan 2024. URL: https://doi.org/10.3390/diagnostics14010112, doi:10.3390/diagnostics14010112. This article has 2 citations.

13. (monda2023theroleof pages 4-6): Emanuele Monda, Michele Lioncino, Federica Verrillo, Marta Rubino, Martina Caiazza, Alfredo Mauriello, Natale Guarnaccia, Adelaide Fusco, Annapaola Cirillo, Simona Covino, Ippolita Altobelli, Gaetano Diana, Giuseppe Palmiero, Francesca Dongiglio, Francesco Natale, Arturo Cesaro, Eduardo Bossone, Maria Giovanna Russo, Paolo Calabrò, and Giuseppe Limongelli. The role of genetic testing in patients with heritable thoracic aortic diseases. Diagnostics, 13:772, Feb 2023. URL: https://doi.org/10.3390/diagnostics13040772, doi:10.3390/diagnostics13040772. This article has 19 citations.

14. (isselbacher20222022accahaguideline pages 24-26): E. Isselbacher, O. Preventza, James Hamilton Black, J. Augoustides, A. Beck, M. Bolen, A. Braverman, B. Bray, Maya M Brown-Zimmerman, E. Chen, T. Collins, A. DeAnda, Christina L. Fanola, L. Girardi, C. Hicks, D. Hui, W. Schuyler Jones, V. Kalahasti, Karen M Kim, D. Milewicz, G. Oderich, Laura Ogbechie, S. Promes, Elsie Gyang Ross, M. Schermerhorn, Sabrina Singleton Times, E. Tseng, Grace J. Wang, and Y. Woo. 2022 acc/aha guideline for the diagnosis and management of aortic disease: a report of the american heart association/american college of cardiology joint committee on clinical practice guidelines. Journal of the American College of Cardiology, Oct 2022. URL: https://doi.org/10.1016/j.jacc.2022.08.004, doi:10.1016/j.jacc.2022.08.004. This article has 2576 citations and is from a highest quality peer-reviewed journal.

15. (levy2024currentunderstandingof pages 9-10): Lauren E. Levy, Megan Zak, and Jason P. Glotzbach. Current understanding of the genetics of thoracic aortic disease. Vessel Plus, Jan 2024. URL: https://doi.org/10.20517/2574-1209.2023.55, doi:10.20517/2574-1209.2023.55. This article has 4 citations.

16. (isselbacher20222022accahaguideline pages 139-140): E. Isselbacher, O. Preventza, James Hamilton Black, J. Augoustides, A. Beck, M. Bolen, A. Braverman, B. Bray, Maya M Brown-Zimmerman, E. Chen, T. Collins, A. DeAnda, Christina L. Fanola, L. Girardi, C. Hicks, D. Hui, W. Schuyler Jones, V. Kalahasti, Karen M Kim, D. Milewicz, G. Oderich, Laura Ogbechie, S. Promes, Elsie Gyang Ross, M. Schermerhorn, Sabrina Singleton Times, E. Tseng, Grace J. Wang, and Y. Woo. 2022 acc/aha guideline for the diagnosis and management of aortic disease: a report of the american heart association/american college of cardiology joint committee on clinical practice guidelines. Journal of the American College of Cardiology, Oct 2022. URL: https://doi.org/10.1016/j.jacc.2022.08.004, doi:10.1016/j.jacc.2022.08.004. This article has 2576 citations and is from a highest quality peer-reviewed journal.

17. (patil2024developmentandassessment pages 1-5): Rohan Patil, Fatima Ashraf, Samer Abu Dayeh, and Siddharth K Prakash. Development and assessment of a point-of-care application (genomic medicine guidance) for heritable thoracic aortic disease. JMIRx Med, 5:e55903-e55903, Oct 2024. URL: https://doi.org/10.2196/55903, doi:10.2196/55903. This article has 5 citations.

18. (duarte2023geneticallytriggeredthoracic pages 3-4): Valeria E. Duarte, Raman Yousefzai, and Michael N. Singh. Genetically triggered thoracic aortic disease: who should be tested? Methodist DeBakey Cardiovascular Journal, 19:24-28, Mar 2023. URL: https://doi.org/10.14797/mdcvj.1218, doi:10.14797/mdcvj.1218. This article has 18 citations.