Cardiovascular Disease: Student/Resident Case Report Poster - Cardiovascular Disease I |

Myocardial Infarction in a Teenage Male With MTHFR Gene Mutation FREE TO VIEW

Jeremy Landeo Gutierrez, MD; Subhrajit Lahiri, MD; Branko Cuglievan, MD; Athena Pefkarou, MD
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Nicklaus Children's Hospital, Coral Gables, FL

Copyright 2016, American College of Chest Physicians. All Rights Reserved.

Chest. 2016;150(4_S):95A. doi:10.1016/j.chest.2016.08.103
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SESSION TITLE: Student/Resident Case Report Poster - Cardiovascular Disease I

SESSION TYPE: Student/Resident Case Report Poster

PRESENTED ON: Tuesday, October 25, 2016 at 01:30 PM - 02:30 PM

INTRODUCTION: Cardiac chest pain in pediatric patients is rare, but potentially serious.It is of great importance to identify red flags that require prompt cardiovascular investigation.

CASE PRESENTATION: 15 year old adolescent male, competitive swimmer with no past medical history presented with acute stabbing non-irradiating central chest pain while swimming practice.Pain worsened when he laid flat or took deep breaths.No fever, palpitations, syncope or other associated symptoms.Family history positive for diabetes and hypertension. No history of bleeding disorders, no illicit drug use, alcohol or tobacco use.Physical examination remarkable for tachycardia, rest of exam was normal. EKG showed non-specific ST-T changes. Initial Troponin level was 6.46, CKMB 27, CK 586. ECHO showed regional apex wall abnormality LVEF 61%. Within the next day cardiac enzymes started to rise withTroponin I at 92.1, CKMB at 81.4 and CK 615. Cardiac MRI showed preserved LV function, abnormal enhancement of subendocardial apical anterior and anteroseptal LV. CT angiogram showed 90% stenosis in the lumen of LAD artery and the second diagonal vessel. Coagulation studies were positive for homozygous mutation of MTHFR with normal homocysteine levels.

DISCUSSION: Cardiac chest pain in pediatric patients is rare.Saleeb et al, found that in patients evaluated in pediatric cardiology outpatient clinics only 1% were of cardiac origin.Mahle WT et al, estimated 157 cases of Acute MI in adolescents per year in the USA.The paucity of literature on outcome of coronary angioplasty in children along with implausibility of coronary angioplasty of the clot at the bifurcation of LAD resulted in treatment of the clot with anticoagulation only. which led to resolution of clot and preservation of ventricular function. Hypercoagulability is a controversial cause of coronary artery thrombosis.The YAMIS trial found that levels of Factor VII, VIII were higher in patients with ischemic stroke.MTHFR gene mutation was not included.There are no reported cases of MI in children with homozygous mutation of MTHFR.The use of anticoaguation is controversial in patients MTHFR homozygous mutation.

CONCLUSIONS: Incidence of myocardial infarction is low in pediatrics;CXR,EKG and enzymes needs to be done based on the history and physical exam.Anticoagulation with enoxaparin and aspirin seems to have good outcome and helped in complete resolution of clot.More research is required before a consensus for treatment of MI in children can be made.

Reference #1: Saleeb SF, Li WYV, Warren SZ, Lock JE. Effectiveness of screening for life-threatening chest pain in children. Pediatrics 2011 11;128(5):e1062

Reference #2: Mahle WT, Campbell RM, Favaloro-Sabatier J. Myocardial infarction in adolescents. J Pediatrics 2007;151(2): 150-154

Reference #3: Doggen CJ, C. Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A. Circulation 1998 03/24;97(11):1037

DISCLOSURE: The following authors have nothing to disclose: Jeremy Landeo Gutierrez, Subhrajit Lahiri, Branko Cuglievan, Athena Pefkarou

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