Sudden cardiac death due to angiofibroma: a case report

doi:10.21203/rs.3.rs-295489/v1

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Sudden cardiac death due to angiofibroma: a case report

https://doi.org/10.21203/rs.3.rs-295489/v1

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Background

Angiofibromas are benign but locally aggressive vascular tumours that commonly occur in the nasopharynx, neck and face. Angiofibromas located in sites other than head and neck regions are rare. We report a massive interventricular tumour in a 5-month-old who died suddenly.

Case presentation

We present a 5-month-old who died suddenly due to a massive rare cardiac tumour. A post mortem carried out diagnosed it as angiofibroma on histopathology. At three months of age, he had a persisting cough for a week, with associated occasional wheezing and dyspnea that stopped after symptomatic treatment. A chest x-ray revealed a mild cardiomegaly. Serial echocardiograms showed a well circumscribed, homogenous, highly vascularized mass filling the left ventricle. Surgical intervention was planned.

Conclusions: Cardiac angiofibromas are rare pediatric neoplasms and as seen in this report, invariably fatal. More insights into their pathogenesis, prevention and treatment are required.

Cardiac & Cardiovascular Systems

Oncology

Pathology

autopsy

congenital

benign paediatric neoplasms

bronchiolitis

rhabdomyomas

Paediatric neoplasms are a rare cause of morbidity and mortality. While malignant paediatric neoplasms such as Wilm’s tumor are well known, there is need for awareness concerning the burden of disease due to benign neoplasms. These neoplasms have major clinical consequences requiring multidisciplinary surgical intervention, without which many of them are fatal. Benign paediatric neoplasms involving critical organs such as the heart are associated with high mortality rates.

Angiofibromas are benign but locally aggressive vascular tumours that occur in the nasopharynx, neck and face. These are rare soft tissue hamartomas which contain mainly blood vessels and fibrous tissues, and are often found in association with tuberous sclerosis (TS) [1]. Angiofibromas located in sites other than head and neck regions are rare. Cardiac angiofibromas are rare occurrences, whose reports should be published when available. We report a massive interventricular tumour in a 5-month-old who died suddenly, and an autopsy diagnosis of cardiac angiofibroma was made.

We present a male infant who died at the age of 5 months, and was the second born child in his family. The older sibling is female, alive and well. Three antenatal obstetric scans were all normal, and did not detect any morphological abnormality. Delivery was through caesarian section due to a previous caesarian section for the older sibling. He received appropriate childhood vaccines, and his growth and development were normal. Feeding was normal, however occasional sweating was reported even at rest. When he was three months old, he had persisting cough for a week, with associated occasional wheezing and dyspnea. He had normal SPO₂ levels, and was diagnosed with bronchiolitis – following which he was admitted and nebulized severally. He was also on nasal drops and sprays, antihistamines, antibiotics, salbutamol and protein pump inhibitors. Symptoms resolved fully following the symptomatic management above. Full hemogram, C-Reactive Protein, Procalcitonin and other blood investigations were non-remarkable. A chest x-ray revealed a mild cardiomegaly. Serial echocardiograms showed a well circumscribed, homogenous, highly vascularized mass filling the left ventricle (Fig. 1). Other cardiac sites were normal. The patient died suddenly after an abrupt loud unusual scream. He was rushed to the nearby hospital where he was pronounced dead on arrival.

On autopsy, the main findings at external examination were a well-developed and well-nourished child. There was no medical paraphernalia in place, thus no evidence of medical intervention. Major findings were in the respiratory and cardiovascular systems. There was a large cardiac tumour involving 80% of the heart mass, located in the interventricular and interatrial septum. This extended into the left ventricular wall (Fig. 2). The tumour consisted of blood vessels and fibrous connective tissue with sparsely distributed cardiac myocytes, suggesting a birth defect characterized by disorganized cells into the organ (Fig. 3). The heart was enlarged due to the large benign neoplasm within the septum and this compressed all chambers into small slit like spaces.

Both lungs were heavy, soft and with frothy fluid within the airways. On histological examination, the lungs showed diffuse pulmonary edema with marked vascular congestion, while the cardiac neoplasm was an angiofibroma (Fig. 4). The sections of the brain showed cerebral oedema. The neurons and glia were of normal morphology. All other tissues, systems and organs showed normal morphology.

Like in the current case, large cardiac tumours are sometimes seen in infants and can be a cause of sudden cardiac death [1]. The majority are benign and non-invasive, although they may have significant hemodynamic consequences depending on their size and location. The most common type of tumors reported in children and adolescents are rhabdomyomas, and in 50% of the cases are associated with TS complex [1]. Other benign tumours are fibromas, myxomas, and teratomas [2]. Sarcoma is the largest group of primary cardiac malignant neoplasms [3].

For angiofibromas, the usual location is mainly the nasopharynx and head and neck region where it presents with nasal obstruction and nose bleeding. It is most common in adolescent males and thus also referred to as juvenile nasopharyngeal angiofibroma [4]. Histologically, these tumours are well-circumscribed but not encapsulated and are composed of collagenized fibrous stroma with vessels ranging from small slit-like spaces to dilated lumens. No significant cytologic atypia is observed, but multinucleated stromal cells are sometimes seen [5]. The vascular nature is highlighted by angiograms that show a rich blood supply. Angiofibroma is rare to present as cardiac tumour [6].

The clinical features described in the current case show a large cardiac angiofibroma involving the septum and the left ventricular wall. It was associated with pulmonary oedema and vascular congestion. The clinical presentation of a patient with a cardiac tumour is determined more by the tumour’s location than by its histologic type, varying widely from asymptomatic presentations to life-threatening cardiac events by critical obstruction of a valve or outflow tract. Based on their size and position, they may induce arrhythmias and interfere with ventricular compliance [7]. Because of the rapid growth of tumour mass in small-sized cavities, congestive heart failure (CHF) follows and surgical treatment may be lifesaving.

Cardiac tumours often present with CHF manifested by fatigue, oedema, jugular venous distention and ascites. Other symptoms include shortness of breath, syncope and night sweats. Pericardial effusions, venacaval syndrome, pulmonary embolism and restrictive cardiomyopathy may be some of the complications. Because tumours may embolize, they can also lead to seizures, transient ischemic attacks, and cerebrovascular and peripheral-vascular accidents [8].

Echocardiogram is an excellent tool to diagnose the tumour. However, precise information on the tumour histotype is not attainable by echocardiography [9]. A correct therapeutic plan requires an accurate histopathologic diagnosis of the resected mass to rule out the rare case of a malignancy. Computerized tomography (CT) scan, magnetic resonance imaging (MRI) and electrocardiography (ECG) can add to the diagnosis.

In the current case, we lost the child as surgical intervention was being planned. The mode of management varies and cannot be easily simplified because the kind of tumour (whether benign or malignant or infiltrative or localized) dictates therapy. Location and extent of the tumour, as well as symptoms, are clinical variables that direct treatment. Observation is sufficient when the mass is small and does not interfere with vascular hemodynamics. However, when the tumour is causing hemodynamic problems by either obstructing the outflow tract, valve or causing rhythm abnormalities, aggressive management by surgical intervention should be done [8]. In occasional cases, implantation of a pacemaker may be needed if atrioventricular block occurs.

Cardiac angiofibromas are rare paediatric neoplasms and as seen in this report, invariably fatal. There are no series describing the definitive management of these rare cardiac tumours. More insights into their pathogenesis, prevention and treatment are required. There is no definite genetic basis for these and consequently, no notable inheritance patterns.

CHF

Congestive heart failure

CT scan

Computerized tomography scan

ECG

Electrocardiography

MRI

Magnetic resonance imaging

Tuberous sclerosis

Ethics approval and consent to participate

Informed consent was obtained from the patient’s parents, and their identity was concealed.

Consent for publication

Written informed consent was obtained from the patient’s parents for publication of the case and any accompanying images. Copies of the consent are available for review by the Editor-in-Chief of this journal.

Availability of data and materials

Clinical data and complementary examinations are available from the corresponding author on reasonable request.

Competing interests

The authors declare that they have no competing interests

Funding

None

Authors' contributions

DMM was responsible for drafting the article. EW performed the autopsy and discussed the case. CYJ was involved in management of the patient and helped to discuss the case. All authors read and approved the final manuscript.

Acknowledgements

Not applicable

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Sudden cardiac death due to angiofibroma: a case report

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Discussion And Conclusions

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