Marfan's Syndrome with Acute Inferior Wall ST-segment Elevation Myocardial Infarction in A Combined Family of 13 Cases
DOI:
https://doi.org/10.59958/hsf.7833Keywords:
Marfan's syndrome, myocardial infarction, balloon dilatation, eye signs, lens replacementAbstract
Marfan's syndrome (MFS) is a rare autosomal dominant connective tissue disorder, often associated with genetic mutations and most patients have a family history of the disease. Its clinical manifestations are mainly skeletal, ocular and cardiovascular pathologies. We report a case of a 34-year-old male diagnosed with Marfan's syndrome at the age of 22 and presenting with ocular symptoms. Following an episode of sudden chest pain, he was admitted to the hospital with an acute inferior wall ST-segment elevation myocardial infarction, and was diagnosed with a mid-right coronary artery occlusion by coronary angiography. He underwent coronary artery balloon dilatation to restore grade 3 flow, and a stent was implantated 4 months later. In a subsequent epidemiologic survey of 26 family members from 4 generations, 13 members were diagnosed with Marfan's syndrome, all of them presented with ocular signs. After more than 3 years of follow-up of the entire family, there is currently no one with coarctation of the aorta and no sudden death. Since some patients with Marfan's syndrome can present with acute chest pain complicated by aortic coarctation, if the coarctation involves the aortic root it can lead to severe stenosis or occlusion of the coronary arteries, resulting in electrocardiograms showing typical changes for a ST-segment elevation myocardial infarction. Considering the complexity and life-threatening nature of Marfan's syndrome, it is important consider the various etiologies of chest pain in patients with Marfan's syndrome.
References
Meirick T, Yang D, Lee MD. A Dislocated Crystalline Lens in a Patient With Marfan Syndrome. JAMA Ophthalmology. 2021; 139: e211533.
Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991; 352: 337–339.
Jondeau G, Michel JB, Boileau C. The translational science of Marfan syndrome. Heart (British Cardiac Society). 2011; 97: 1206–1214.
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. Journal of Medical Genetics. 2010; 47: 476–485.
Lawrence JS. Heritable disorders of connective tissue. Jama the Journal of the American Medical Association. 2000; 21: 345-361
Borsoi J, Morato-Marques M, de Araújo Tofoli F, Assis Pereira L, Farinha-Arcieri LE, Delgado Sarafian R, et al. Generation of two human induced pluripotent stem cell (hiPSC) lines derived from unrelated Marfan Syndrome patients. Stem Cell Research. 2021; 54: 102407.
Ayers R, Kelleman M, Iannucci G, McCracken C, Oster ME. Racial and ethnic differences in response to treatment for Marfan syndrome. Cardiology in the Young. 2021; 31: 1991–1998.
Li C, Zhou F, Tan J, Mao Y, Kong LY, Zhao Y, et al. Application of single-sperm sequencing in a male with Marfan syndrome: a case report and a literature review. Journal of Genetics. 2021; 100: 22.
Stengl R, Ágg B, Pólos M, Mátyás G, Szabó G, Merkely B, et al. Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype-phenotype correlations in improving risk stratification-a literature review. Orphanet Journal of Rare Diseases. 2021; 16: 245.
Santucci JJ, Katz S, Pogo GJ, Boxer R. Peripartum acute myocardial infarction in Marfan's syndrome. American Heart Journal. 1994; 127: 1404–1407.
Deng Y, Ou Z, Li R, Chen Z, Liang P, Sun L. Affected-embryo-based SNP haplotyping with NGS for the preimplantation genetic testing of Marfan syndrome. Systems Biology in Reproductive Medicine. 2021; 67: 298–306.
Bulut MN, Göktaş E, Karadağ E, Bulut K, Oral AY, Şimşek Ş. Sutureless Scleral-Fixated Intraocular Lens Implantation in the Treatment of Congenital Lens Subluxation Related to Marfan Syndrome. Journal of Pediatric Ophthalmology and Strabismus. 2021; 58: 401–406.
Milewicz DM, Braverman AC, De Backer J, Morris SA, Boileau C, Maumenee IH, et al. Marfan syndrome. Nature Reviews. Disease Primers. 2021; 7: 64.
Pyeritz RE. Marfan syndrome: improved clinical history results in expanded natural history. Genetics in Medicine: Official Journal of the American College of Medical Genetics. 2019; 21: 1683–1690.
Wu Y, Wu YZ. A case of late pregnancy combined with acute myocardial infarction death in Marfan syndrome. Chinese Journal of Practical Gynecology and Obstetrics. 2000; 16. (In Chinese).
Xu H, Zhao Z, Wang Q, Zhou W, Wang J, Yu Z, et al. A case of acute myocardial infarction due to ascending aortic coarctation complicated by equine syndrome. Journal of Clinical Cardiovascular Disease. 2009; 25: 2.
Zhang YX, Yang H, Wang GS. Acute inferior wall myocardial infarction induced by aortic dissection in a young adult with Marfan syndrome: A case report. World Journal of Clinical Cases. 2021; 9: 970–975.
Isselbacher EM, Preventza O, Hamilton Black J, 3rd, Augoustides JG, Beck AW, Bolen MA, et al. 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. Circulation. 2022; 146: e334–e482.
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