REFERENCES
1. Spînu M, Onea LH, Homorodean C, Olinic M, Ober MC, Olinic DM. Optical coherence tomography-OCT for characterization of non-atherosclerotic coronary lesions in acute coronary syndromes. J Clin Med. 2022;11:265.
2. Herrington W, Lacey B, Sherliker P, Armitage J, Lewington S. Epidemiology of atherosclerosis and the potential to reduce the global burden of atherothrombotic disease. Circ Res. 2016;118:535-46.
3. D'Abbronzo G, Franco R, Salzillo C, et al. Application of digital analysis for assessment of coronary sub-occlusions in autopsy pathology: it is time to move beyond histology alone. Diagnostics. 2024;14:2115.
4. Salzillo C, Sansone V, Napolitano F. Sudden cardiac death in the young: state-of-the-art review in molecular autopsy. Curr Issues Mol Biol. 2024;46:3313-27.
6. Corrado D, Basso C, Thiene G. Sudden cardiac death in young people with apparently normal heart. Cardiovasc Res. 2001;50:399-408.
7. Risgaard B. Sudden cardiac death: a nationwide cohort study among the young. Dan Med J. ;63:B5321.
8. Tomassini L, Ricchezze G, Fedeli P, et al. New insights on molecular autopsy in sudden death: a systematic review. Diagnostics. 2024;14:1151.
9. Skrypnyk C, AlHarmi R. Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders. Front Genet. 2024;15:1400295.
10. Monda E, Caiazza M, Limongelli G. The role of genetic testing in Marfan syndrome. Curr Opin Cardiol. 2024;39:162-9.
11. Salik I, Rawla P. Marfan syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025.
12. Mitrofanova LB, Rybakova MG. Causes and mechanisms of sudden cardiac death in children. Sud Med Ekspert. 2021;64:43-9.
13. Haruyama S, Torishima M, Kawasaki H, Wada T, Kosugi S. Decision-making processes behind seeking regular cardiac checkups for individuals with Marfan syndrome: a grounded theory study. J Genet Couns. 2024;33:1191-203.
14. Vanem TT, Geiran OR, Krohg-Sørensen K, Røe C, Paus B, Rand-Hendriksen S. Survival, causes of death, and cardiovascular events in patients with Marfan syndrome. Mol Genet Genomic Med. 2018;6:1114-23.
15. Marelli S, Micaglio E, Taurino J, et al. Marfan syndrome: enhanced diagnostic tools and follow-up management strategies. Diagnostics. 2023;13:2284.
16. Zeigler SM, Sloan B, Jones JA. Pathophysiology and pathogenesis of Marfan syndrome. In: Halper J, editor. Progress in heritable soft connective tissue diseases. Cham: Springer International Publishing; 2021. pp. 185-206.
17. Blech B, Dhamija R, Ingall T. Marfan syndrome presenting as spontaneous coronary artery dissection and arteriopathy. Neurologist. 2021;27:34-6.
18. Murad AM, Hill HL, Wang Y, et al. GenTAC Investigators; Montalcino Aortic Consortium Investigators. Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility. Am J Med Genet A. 2022;188:1448-56.
19. Halushka MK, Angelini A, Bartoloni G, et al. Consensus statement on surgical pathology of the aorta from the society for cardiovascular pathology and the association for European cardiovascular pathology: II. noninflammatory degenerative diseases - nomenclature and diagnostic criteria. Cardiovasc Pathol. 2016;25:247-57.
20. Assavarittirong C, Au TY, Nguyen PV, Mostowska A. Vascular Ehlers-Danlos syndrome: pathological variants, recent discoveries, and theoretical approaches. Cardiol Rev. 2022;30:308-13.
21. Bertin L, Hauguel-Moreau M, Prati G, et al. Spontaneous coronary artery rupture in patients with Ehlers-Danlos syndrome: mini review. Cardiovasc Revasc Med. 2022;40:231-4.
22. Buso G, Corvini F, Fusco EM, et al. Current evidence and future perspectives in the medical management of vascular Ehlers-Danlos syndrome: focus on vascular prevention. J Clin Med. 2024;13:4255.
23. Alqahtani M, Claudinot A, Gaudry M, et al. Endovascular management of vascular complications in Ehlers-Danlos syndrome type IV. J Clin Med. 2022;11:6344.
24. Frank M, Albuisson J, Ranque B, et al. The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. Eur J Hum Genet. 2015;23:1657-64.
25. Byers PH, Belmont J, Black J, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2017;175:40-7.
26. Demirdas S, van den Bersselaar LM, Lechner R, et al. Vascular Ehlers-Danlos syndrome: a comprehensive natural history study in a dutch national cohort of 142 patients. Circ Genom Precis Med. 2024;17:e003978.
27. Jost ZT, Sang CJ 3rd, Lertwilaiwittaya P, Chapman GD. Coronary artery aneurysm in Loeys-Dietz syndrome: a case report. Eur Heart J Case Rep. 2022;6:ytac204.
28. Nickol JL, Malik SA, Yetman AT. Case report of Loeys-Dietz syndrome presenting with coronary artery aneurysm. Eur Heart J Case Rep. 2022;6:ytac383.
29. Verstraeten A, Perik MHAM, Baranowska AA, et al. European/International Fibromuscular dysplasia registry and initiative (FEIRI); collaborators of the european/international fibromuscular dysplasia registry and initiative (FEIRI). Enrichment of rare variants in Loeys-Dietz syndrome genes in spontaneous coronary artery dissection but not in severe fibromuscular dysplasia. Circulation. 2020;142:1021-4.
30. Chmielewski P, Ponińska JK, Michalak E, et al. Cardiovascular involvement and prognosis in Loeys-Dietz syndrome. Kardiol Pol. 2023;81:1096-102.
31. Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R. Clinical features and complications of Loeys-Dietz syndrome: a systematic review. Int J Cardiol. 2022;362:158-67.
32. Dey S, Cheikhali R, Frishman WH, Aronow WS. Genetic problems, diagnosis, and cardiovascular manifestations of Loeys-Dietz syndrome. Cardiol Rev. 2024;32:513-8.
33. Tian M, Si MS, Zhang Y, Ding Y, Chen J. Surgical treatment of Loeys-Dietz syndrome in a 3-year-old: case report and review of literature. Transl Pediatr. 2020;9:695-701.
34. Velchev JD, Van Laer L, Luyckx I, Dietz H, Loeys B. Loeys-Dietz syndrome. In: Halper J, editor. Progress in heritable soft connective tissue diseases. Cham: Springer International Publishing; 2021. pp. 251-64.
35. Loeys BL, Dietz HC. Loeys-Dietz syndrome. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2024.
36. Van Laer L, Dietz H, Loeys B. Loeys-Dietz syndrome. In: Halper J, editor. Progress in heritable soft connective tissue diseases. Dordrecht: Springer Netherlands; 2014. pp. 95-105.
37. Micha D, Guo DC, Hilhorst-Hofstee Y, et al. SMAD2 mutations are associated with arterial aneurysms and dissections. Hum Mutat. 2015;36:1145-9.
38. Salzillo C, De Gaspari M, Basso C, Francavilla M, De Leonardis F, Marzullo A. Sudden cardiac death caused by Kawasaki coronary artery vasculitis in a child with Hodgkin’s lymphoma. case report and literature review. Cardiovasc Pathol. 2025;74:107700.
39. Morana E, Guida F, Andreozzi L, et al. Coronary arteries lesions in Kawasaki disease: risk factors in an italian cohort. Biomedicines. 2024;12:2010.
40. Owens AM, Plewa MC. Kawasaki disease. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024.
42. Khanna S, Garikapati K, Goh DSL, et al. Coronary artery vasculitis: a review of current literature. BMC Cardiovasc Disord. 2021;21:7.
43. Gaspari M, Ascione A, Baldovini C, et al; Italian study group of cardiovascular pathology. Cardiovascular pathology in vasculitis. Pathologica. 2024;116:78-92.
44. González-Gay MÁ, Heras-Recuero E, Blázquez-Sánchez T, et al. Genetics of vasculitis. Best Pract Res Clin Rheumatol. 2024;38:101969.
45. Onouchi Y, Ozaki K, Burns JC, et al. Japan Kawasaki Disease Genome Consortium; US Kawasaki Disease Genetics Consortium. A genome-wide association study identifies three new risk loci for Kawasaki disease. Nat Genet. 2012;44:517-21.
46. Carmona FD, Martín J, González-Gay MA. Genetics of vasculitis. Curr Opin Rheumatol. 2015;27:10-7.
47. Liu J, Yuan P, Pang Y, Su D. ITPKC polymorphism (rs7251246 T > C), coronary artery aneurysms, and thrombosis in patients with Kawasaki disease in a southern han Chinese population. Front Immunol. 2023;14:1184162.
48. Wang Y, Lin K, Zhang L, et al. The rs7404339 AA genotype in CDH5 contributes to increased risks of Kawasaki disease and coronary artery lesions in a southern chinese child population. Front Cardiovasc Med. 2022;9:760982.
50. Fujiwara T, Fujiwara H, Nakano H. Pathological features of coronary arteries in children with Kawasaki disease in which coronary arterial aneurysm was absent at autopsy. Quantitative analysis. Circulation. 1988;78:345-50.
51. Trinidad B, Surmachevska N, Lala V. Takayasu Arteritis. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024.
52. Somashekar A, Leung YT. Updates in the diagnosis and management of Takayasu’s arteritis. Postgrad Med. 2023;135:14-21.
53. Bhandari S, Butt SRR, Ishfaq A, et al. Pathophysiology, diagnosis, and management of takayasu arteritis: a review of current advances. Cureus. 2023;15:e42667.
54. Misra DP, Singh K, Rathore U, et al. Management of takayasu arteritis. Best Pract Res Clin Rheumatol. 2023;37:101826.
57. Terao C, Yoshifuji H, Kimura A, et al. Two susceptibility loci to takayasu arteritis reveal a synergistic role of the IL12B and HLA-B regions in a Japanese population. Am J Hum Genet. 2013;93:289-97.
58. Renauer PA, Saruhan-Direskeneli G, Coit P, et al. Identification of susceptibility loci in IL6, RPS9/LILRB3, and an intergenic locus on chromosome 21q22 in takayasu arteritis in a genome-wide association study. Arthritis Rheumatol. 2015;67:1361-8.
59. Kauferstein S, Beckmann BM. Postmortem genetic analysis following sudden cardiac death : background, approach, and future. Herzschrittmacherther Elektrophysiol. 2024;35:31-8.
60. Kelly KL, Lin PT, Basso C, et al. Sudden cardiac death in the young: a consensus statement on recommended practices for cardiac examination by pathologists from the society for cardiovascular pathology. Cardiovasc Pathol. 2023;63:107497.
61. Salzillo C, La Verde M, Imparato A, Molitierno R, Lucà S, Pagliuca F, Marzullo A. Cardiovascular diseases in public health: chromosomal abnormalities in congenital heart disease causing sudden cardiac death in children. Medicina. 2024;60:1976.
