Dataset Information

Cardiac paraganglioma with sulfur subunit B gene mutation: a case report.

ABSTRACT:

Background

Pheochromocytoma and paraganglioma is a rare disease with a prevalence of 0.2-0.6% in hypertensive patients from outpatient.

Case summary

A 21-year-old man complained of blood pressure elevation over one year and persistent hyperhidrosis near 5 years. In local hospital, a mass in the pericardial space with abundant blood flow was observed via echocardiography and confirmed under minimally invasive thoracotomy. With suspicion of malignant cardiac mass, the patient was recommended to transfer for further diagnosis and treatment. Combining evaluation for blood and urinary catecholamine levels, somatostatin receptor imaging, and iodine-131 metaiodobenzylguanidine scintigraphy, he was confirmed with the diagnosis of cardiac paraganglioma with blood supply from the right coronary artery identified via angiography. The cardiac tumour was then surgically resected and confirmed with a pathological diagnosis of paraganglioma. Subsequent genetic test suggested succinate dehydrogenase complex iron sulfur subunit B (SDHB) gene mutation. At 5-month follow-up, the patient was recovered with normal levels of blood catecholamines and catecholamine metabolites.

Discussion

Cardiac paraganglioma should be considered and evaluated in hypertensive patients with cardiac mass, even in non-typical population. Given a potential risk of developing malignancies, close follow-up is significant in patients with SDHB gene mutations.

SUBMITTER: Wu C

PROVIDER: S-EPMC7896810 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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Publications

Cardiac paraganglioma with sulfur subunit B gene mutation: a case report.

Wu Chao C Yang Xu X Zhang Huimin H Song Yunhu Y

European heart journal. Case reports 20210220 2

<h4>Background</h4>Pheochromocytoma and paraganglioma is a rare disease with a prevalence of 0.2-0.6% in hypertensive patients from outpatient.<h4>Case summary</h4>A 21-year-old man complained of blood pressure elevation over one year and persistent hyperhidrosis near 5 years. In local hospital, a mass in the pericardial space with abundant blood flow was observed via echocardiography and confirmed under minimally invasive thoracotomy. With suspicion of malignant cardiac mass, the patient was re ...[more]

PMID: 33644666

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Project description:BackgroundSarcoidosis is a rare multiorgan inflammatory disorder of unknown aetiology, characterized by the formation of non-caseating granulomas in the affected organs. Cardiac involvement is underrecognized and observed in up to 25% of cases in autopsy studies, and is associated with a high mortality rate, especially due to sudden cardiac death due to ventricular arrhythmias.Case summaryA 41-year-old man well known to our hospital because of his father's diagnosis of cardiac amyloidosis, and carrier of transthyretin (TTR) gene mutation, was hospitalized following a resuscitated cardiac arrest. The patient was hospitalized a month before for a syncopal episode with demonstration of preserved left ventricular ejection fraction (LVEF) with akinetic basal septum at heart ultrasound and normal coronary. Chest computed tomography, performed in the emergency department, was significant for hilar lymphadenopathies and pulmonary nodules highly suggestive of sarcoidosis. A subsequent 18-fluorodeoxyglucose-positron emission tomography (FDG-PET) showed multiorgan phlogistic involvement, including the myocardium. After the diagnosis of cardiac sarcoidosis, the patient was started on steroids therapy and underwent ICD implantation. A follow-up 18-FDG-PET showed a reduction of organs glucose uptake and a follow-up echo an improvement in LVEF. Despite that, he occurs occasional recording of repetitive ventricular arrhythmias and one appropriate ICD shock during the next 12 months.DiscussionCardiac sarcoidosis is an insidious disease. Its diagnosis can be challenging, with no specific finding in echocardiography. The best strategy would be multi-modality imaging involving both magnetic resonance imaging with late gadolinium enhancement and 18-FDG-PET, followed by biopsy to confirm the diagnosis. Multi-modality imaging should be further used to evaluate the response to treatment and assess prognosis. Since the patient was a known carrier of the TTR gene mutation, many efforts were made in order to come up with the correct diagnosis considering that both cardiac amyloidosis and cardiac sarcoidosis are non-ischaemic cardiomyopathy with systemic involvement.

Dataset Information

Cardiac paraganglioma with sulfur subunit B gene mutation: a case report.

Background

Case summary

Discussion

Publications

Cardiac paraganglioma with sulfur subunit B gene mutation: a case report.

Similar Datasets

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