Computed tomography angiography diagnosis of Marfan syndrome complicated with fulminant myocarditis under extracorporeal membrane oxygenation support: a case report

Abstract

Background

Fulminant myocarditis (FM) is a rare but serious inflammatory disease of the heart that should be considered for extracorporeal membrane oxygenation (ECMO) supportive therapy when it occurs. The diagnosis of FM is made more difficult in the context of Marfan’s syndrome combined with aortic root dilation. We report a case of a patient on ECMO support and with comorbid Marfan’s syndrome who was finally diagnosed with FM after computed tomography angiography (CTA) differentiated between FM, coronary artery disease, and aortic root dilation.

Case summary

An 18-year-old male with suspected Marfan’s syndrome presented to our hospital with sudden onset of anterior chest pain without obvious trigger with nausea and vomiting for 10 h, supported by ECMO. His laboratory tests showed leucocytosis, elevated troponin, and creatine kinase. The electrocardiogram showed acute high lateral and extensive anterior wall myocardial infarction. On the second day of admission, he underwent CTA to rule out extensive aortic coarctation and coronary stenosis and found inhomogeneous enhancement of the myocardium and abnormal patchy enhancement of the epicardium, which was considered to be FM. The patient was then treated with methylprednisolone and human immunoglobulin, and his symptoms and laboratory markers improved markedly after a few days.

Discussion

The diagnostic process in this case highlights the challenge of recognizing FM in the context of complex cardiovascular disease. Extracorporeal membrane oxygenation-supported CTA of the aorta combined with computed tomography (CT) cardiac coronary imaging provided an important basis for diagnosis, helped rule out other potential aetiologies, suggested the possibility of myocarditis, and contributed to the patient’s optimal therapy.

Learning points.

• Fulminant myocarditis (FM), although uncommon, can cause life-threatening complications, necessitating prompt detection and treatment.

• Computed tomography angiography (CTA) allows for non-invasive diagnosis of FM, as well as evaluation of coronary arteries and myocardial tissue characteristics.

• With extracorporeal membrane oxygenation support, adjusting the machine speed, increasing the contrast concentration and scanning phase, CTA examination can still be realized.

Introduction

Fulminant myocarditis (FM), a clinical subtype of myocarditis, is characterized by an acute inflammatory disease of the myocardium, which precipitously leads to the loss of cardiac function, manifesting as initial symptoms of acute heart failure, progressing to overt cardiogenic shock, life-threatening arrhythmias, and cardiac arrest.¹ Fulminant myocarditis ranks among the primary causes of sudden cardiac death in young adults, and it also serves as a significant precursor to dilated cardiomyopathy with a poor prognosis, making its diagnosis imperative. Should FM be suspected or diagnosed, it is strongly recommended to employ modern life-sustaining equipment.² Marfan syndrome, a systemic connective tissue disorder with distinctive physical features, is most commonly caused by mutations in the FBN1 gene, and it is an autosomal dominant inherited condition that can affect the cardiovascular system, lungs, skeleton, eyes, and skin, as per the diagnostic criteria³ (refer to Table 1). Aortic root dilation is a classical cardiovascular manifestation of Marfan syndrome, where structural abnormalities in the aortic wall lead to progressive dilatation under the continuous impact of blood flow, increasing the risk of aortic rupture and potentially impairing cardiac function.⁴ Fulminant myocarditis can rapidly result in haemodynamic instability and circulatory compromise, which vasoactive drugs cannot sustain, making extracorporeal membrane oxygenation (ECMO) the cornerstone of current treatment.⁵ The mortality rate for ECMO patients ranges from 50% to 60%, with a six-month survival rate as low as 30%. Hence, it is crucial to review patients undergoing ECMO cannulation.⁶

Table 1.

Diagnosis of MFS based on the 2010 revised Ghent Nosology

Family history of MFS	No family history of MFS
Presence of any of the following:	Aortic root dilation or dissection And any of the following:
Aortic root dilation	ECTopia lentils
ECTopia lentils	FBN1 pathogenic variant
Systemic scorea ≥ 7	Systemic scorea ≥ 7

^aThe systemic score assigns point values for the following: wrist and/or thumb sign, anterior chest wall deformity, hindfoot deformity, history of pneumothorax, dural eCTAsia, protrusion acetabular, reduced upper segment/lower segment ratio (US/LS) and increased arm spam/height ratio, scoliosis or thoracolumbar kyphosis, reduced elbow extension, distinctive facial features, skin striae, myopia, and mitral valve prolapse.

In this unique case report, we delineate the details of an 18-year-old male patient with Marfan syndrome who presented with sudden onset of chest pain of unknown cause and was admitted with ECMO support. Ultimately, the diagnosis of FM was confirmed through computed tomography angiography (CTA) imaging in conjunction with severe infection markers and myocardial injury indices. Our objective is to describe the imaging characteristics of FM on CTA and how to differentiate it from coronary artery disease and aortic dissection, which may coexist with Marfan syndrome.

Summary figure

Time	Events
Pre-hospital	The patient had Marfan’s syndrome but had no physical symptoms.
Day of admission	Patient with a sudden onset of anterior chest pain without obvious cause with nausea and vomiting for 10 h, and transferred to our hospital with ECMO support.
Days 2–3	CTA showed no stenosis of the coronary arteries, widening of the aortic root without rupture, and marked circumferential enhancement of the epicardium in the delayed scanning period.
Day 3–6	The clinician diagnosed the patient with fulminant myocarditis and also administered methylprednisolone and human immunoglobulin.
Days 7–8	The patient’s symptoms of myocarditis improved significantly, and the values of relevant indexes returned to normal.
Days 9–22	Patients discontinued methylprednisolone and human immunoglobulin. Continued anti-infective and renal dialysis therapy.
Day 23	The patient was combined with severe infection, lower extremity venous thrombosis and multi-organ failure syndrome, and it was decided to transfer to the hospital for treatment.

Case presentation

An 18-year-old man presented with sudden, unprovoked anterior chest pain with nausea and vomiting for 10 h. Electrocardiography suggested acute high lateral wall and extensive anterior wall myocardial infarction. He was transferred to our hospital under ECMO. On admission, he had a heart rate of 114 beats per minute and a blood pressure of 72/63 mmHg. The patient had abnormal development with a tall, thin body and abnormally long fingers and toes, which met the diagnostic criteria for Marfan’s syndrome (Table 1).³ The ECMO drainage catheter was visible in the left femoral vein, and the right femoral artery ECMO perfusion tube was free of blood and fluid leakage. Laboratory findings revealed white blood cells count of 18.01 × 109/L (reference value: 3.5–9.5 × 109/L), neutrophil count of 11.82 × 109/L (reference value: 1.8–6.3 × 109/L), creatine kinase levels of 7463 U/L (reference value: 30–325 U/L), creatine kinase isoenzyme levels of 300 U/L (reference value: 0–25 U/L), and troponin levels of >80 μg/L (reference value: <0.03 μg/L). Cardiac ultrasound showed EDV: 142 mL; ESV: 119 mL; SV: 23 mL; CO: 3.0 L/min. Based on the typical physical examination and genetic diagnosis, Marfan’s syndrome was confirmed. At the same time, the patient’s electrocardiography (Figure 1) findings and elevated levels of myocardial necrosis markers, such as troponin and creatine kinase, suggested coronary artery disease and FM. Prompting clinicians to perform CTA, computed tomography (CT) cardiac coronary angiography. Therefore, the patient underwent chest radiography (Figure 2A), CTA of the aorta (Figure 2B–F), and CT cardiac coronary imaging (Figure 2G–I). The clinician confirms the diagnosis of FM by combining imaging findings, indicators of severe infection, and indicators of myocardial injury. Finally, on the second day of admission, the diagnosis of FM was supported by the clinical combination of severe infection indicators and myocardial injury indicators. Subsequently, the patient was treated with methylprednisolone (3–8 mg/kg) and human immunoglobulin (2 g/kg total). After the 5th day of admission, the patient’s troponin, cardiac enzyme profile indexes, and myocardial injury improved. The monitoring of cardiac ultrasound beats was better than before (EDV: 250 mL; ESV: 180 mL; SV: 70 mL; CO: 3.9 L/min). At this time, the patient’s EF (EF = SV/EDV ∗ 100%) increased from 16% to 28% on initial admission. Then human immunoglobulin and methylprednisolone shock therapy were applied for 3 days and then reduced to discontinuation. Clinicians assessed that the patient can be discontinued ECMO. However, the patient had a combination of severe infections, venous thrombosis in the lower extremities, and multiorgan damage syndrome, he was transferred to a higher hospital for further treatment on the 28rd day of our hospitalization. According to our follow-up, the patient remained conscious throughout his stay at the parent hospital. Cardiac function improved but remained poor. Finally, he died 2–3 days after being transferred to a rehabilitation hospital.

Figure 1.

The patient’s electrocardiogram (1. Sinus tachycardia; 2. Complete right bundle branch block; 3. V5 R/S < 1; 4. Q wave abnormality; 5. ST-T abnormality).

Figure 2.

(A) Patchy and flocculent hyperdense shadows in both lungs with poorly defined borders, markedly enlarged cardiac shadows, and apical displacement to the left and downward. (B and C) Uneven myocardial enhancement, with abnormal streak-like enhancement in the epicardium during the delayed phase. (D–F) Widening of the aortic root, poorly visualized distal abdominal aortic root dilation, good lower extremity filling. (G–I) Normal origin of coronary arteries on both sides, with no apparent atherosclerotic plaque or stenotic changes in the lumens.

Discussion

Fulminant myocarditis is a rare form of myocarditis characterized by sudden onset of chest pain and haemodynamic instability, and ECMO support should be considered once it occurs.⁷ Therefore, early and differential diagnosis is important. Our patient had Marfan’s syndrome combined with aortic root widening. When the aortic root ruptures, leading to aortic dissection, patients may experience sudden chest pain, which has similar symptoms to FM, making it more challenging to diagnose FM early on. Endomyocardial biopsy is currently the gold standard for diagnosing myocarditis; however, this highly invasive procedure lacks diagnostic sensitivity. Endomyocardial biopsy does not provide detailed information on the severity of inflammatory changes and functional impairment and poses associated risks to patients.⁷ Compared to cardiac magnetic resonance, CTA is valuable in differentiating myocardial ischaemia from acute myocarditis in cases of acute chest pain. An initial CT scan can be used to assess the coronary arteries and myocardial tissue and to reveal coronary stenosis by identifying subendocardial perfusion insufficiency; delayed CT acquisition is performed 3–5 min later. Delay-enhancement refers to the phenomenon wherein certain regions of the myocardium exhibit marked hyperattenuation on CT scans after the injection of a contrast agent, a manifestation correlated with myocardial cell injury and the dilation of the extracellular space. Common delayed enhancement patterns in myocarditis include subepicardial enhancement, transmural enhancement, and patchy enhancement, which were confirmed in this case (Figure 2B and C).⁸

Contrast agent injections are performed during ECMO and traditional vascular puncture routes may be limited or altered.⁹ The ECMO revolutions per minute were adjusted based on the patient’s condition while increasing the contrast agent concentration with the scanning phase. The contrast agent was injected from the femoral artery, and the patient’s physical condition was closely monitored; images were obtained that could reflect myocardial tissue and coronary artery characteristics (Figure 2B and C and G–I). This patient is on arteriovenous ECMO (VA-ECMO) model support. VA-ECMO provides circulatory and respiratory support by drawing blood from the veins, oxygenating it and returning it to the arteries, but this increases left ventricular afterload. Dilatation of the aortic root may affect aortic valve function and increase blood regurgitation, thereby further elevating left ventricular end-diastolic pressure, while FM can cause severe and irreversible damage to myocardial cells. Even after aggressive treatment, the patient may still face serious complications such as heart failure and arrhythmias.¹⁰

We report the case of a patient with Marfan syndrome complicated by aortic root dilatation, in whom aortic CTA and CT cardiac coronary imaging were performed with ECMO support after adjusting the contrast agent dose to the patient’s individualized situation, which provided an important basis for the diagnosis of FM and helped to exclude other potential causes and suggested the possibility of myocarditis. The early diagnosis and prompt therapeutic interventions, encompassing the administration of glucocorticoids and immunoglobulin pulses, are crucial for enhancing the patient’s prognosis. This case highlights the importance of imaging examinations and individualized treatment strategies.

Lead author biography

Graduate student in radiography, my current research focuses on the exploration of the clinical application value of computed tomography angiography (CTA) and the construction of a non-invasive assessment system for renal function impairment based on CT imaging technology. In the field of CTA research, I am committed to exploring its potential for accurate diagnosis in scenarios of cardiovascular and cerebrovascular diseases, peripheral vascular lesions, etc. In particular, I have accumulated practical experience in optimizing scanning protocols, reducing radiation dose and contrast dosage, and improving image quality at the same time.

Data availability

The data underlying this article will be shared on reasonable request to the corresponding author.