A Case Report of Marfan Syndrome Presenting With Atypical Chest Pain: A 28-Year-Old Male With Non-ST-Elevation Myocardial Infarction (NSTEMI)

Abstract

Marfan syndrome is a rare autosomal dominant disorder of the connective tissue. It results in a mutation in the Fibrillin-1 protein gene. We present a case of Marfan's syndrome in a young adult with life-threatening, sudden onset of chest pain secondary to a non-ST elevation myocardial infarction (NSTEMI) in the setting of an aortic pseudoaneurysm. Taking into consideration potential life-threatening underlying processes, a thorough and detailed methodology must be undertaken when encountering chest pain in a Marfan's syndrome patient. This case highlights the importance of utilizing a multi-disciplinary approach to the complexities of Marfan syndrome.

Atypical Presentations of Myocardial Infarction: A Systematic Review of Case Reports

“…[Reference] N (sex/age in years) Atypical symptoms Comorbidities Madias et al (2002) [12] Two (M/75, M/62) [19] One (M/83) Severe and diffuse bone pain DM Siau K. (2009) [20] One (M/61) Pain along the medial aspect of his left thigh Recurrent reflux oesophagitis Kohli et al (2010) [21] One (F/66) Sudden onset of slurred speech preceded by dizziness and vomiting None Amirhaeri et al (2010) [22] One (F/53) Earache and sore throat Smoker, dyslipidemia, DM, post-PCI Davenport et al (2012) [23] One (M/68) Intractable hiccups causing insomnia DM, HTN, tobacco use Her et al (2012) [24] One (F/54) Atypical chest pain Papillary fibroelastoma of the aortic valve Holm et al (2012) [25] One (M/48) Leg pain due to arterial occlusion Smoking Khoroshikh (2013) [26] One (M/57) Atypical hand pain, shortness of breath while walking HTN, hypercholesterolemia, smoking Abdalla et al (2014) [27] One (M/65) Progressive dyspnoea, presyncope Morbid obesity, post gastric bypass, depression, alcohol dependence Basic-Jukic et al (2014) [28] One (M/55) Otalgia on post-op renal transplant day three DM, coronary stent, post-renal transplant Dundar et al (2014) [29] One (F/87) Otalgia with sweating on head and neck DM Petrović et al (2014) [30] One (M/63) TIA without chest pain, sinus tachycardia HTN, smoking Parekh et al (2014) [31] One (M/55) Unexplained lethargy and anxiety CAD, post-stent, and on dual antiplatelet Wang et al (2014) [32] One (M/79) Abdominal pain and fever Gastric villous adenoma, TTP Ajayi et al (2015) [33] One (M/58) Shortness of breathing, aphasia, with hypoxia Prostate cancer, HTN, hyperlipidemia, peripheral vascular disease, alcoholism, and past-smoker Taylor (2015) [34] One (M/44 [59] One (M/28) Retrosternal atypical chest pain Marfan syndrome, post aortic root and arch replacement Kirchner (2022) [60] One (F/47) Stressed, jaw pain None…”

Marfanoid to Mortality: A Case Report on Sudden Cardiac Death Due to Aortic Dissection in a Young Male With Marfanoid Habitus

“…The altered microfibril structure in MFS renders the aorta less distensible, setting the stage for structural failures under the considerable forces experienced in this vital vessel. Unlike the elastic response seen in individuals with a normal genotype, the aorta in MFS exhibits structural failure under high stresses, setting the stage for a heightened propensity toward cardiovascular complications [ 1 , 3 ]. Unfortunately, the sudden death of the patient precluded the assessment of FBN1 mutations in this case.…”

“…Marfan syndrome (MFS), a rare autosomal dominant disorder affecting approximately one in 5,000 individuals globally, is associated with mutations in the fibrillin-1 ( FBN1 ) protein gene, disrupting the delicate balance of the extracellular matrix [ 1 ]. This mutation gives rise to a spectrum of clinical manifestations, with cardiovascular complications, notably aortic root dilatation leading to dissection and rupture, being a common cause of sudden cardiac death [ 2 ].…”