Dataset Information

'The bubble heart': an unusual natural history told by multimodality imaging- a case report.

ABSTRACT:

Background

Intracardiac thrombosis is a relatively common pathological condition. Often, it is diagnosed at echocardiography during the subacute or chronic phase. In the very acute phase, tissue composition can make thrombus appearance very different from that usually seen. Fresh thrombosis has been previously found also in peripartum cardiomyopathy (PPC), but with imaging features different from our case.

Case summary

A 27-year-old woman was referred to our hospital for PPC, with echocardiographic finding of intraventricular masses, resembling big bubbles. Cardiac magnetic resonance (CMR) allowed definitively diagnosing intracardiac 'very acute' thrombosis, which is rarely detected.

Discussion

Our case provides a practical lesson about management of an unusual presentation of a common problem. When early echocardiography does not allow making a certain diagnosis, CMR can be helpful and decisive, due to its unique ability to provide characterization of intracardiac masses.

SUBMITTER: Locorotondo G

PROVIDER: S-EPMC7873811 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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Publications

'The bubble heart': an unusual natural history told by multimodality imaging- a case report.

Locorotondo Gabriella G Fedele Elisa E Napolitano Carmela C Galiuto Leonarda L

European heart journal. Case reports 20201226 2

<h4>Background</h4>Intracardiac thrombosis is a relatively common pathological condition. Often, it is diagnosed at echocardiography during the subacute or chronic phase. In the very acute phase, tissue composition can make thrombus appearance very different from that usually seen. Fresh thrombosis has been previously found also in peripartum cardiomyopathy (PPC), but with imaging features different from our case.<h4>Case summary</h4>A 27-year-old woman was referred to our hospital for PPC, with ...[more]

PMID: 33598615

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Project description:BackgroundParaganglioma occurs rarely in the sellar/parasellar region. Here, we report a patient with malignant paraganglioma with primary sellar location with unusual genetic and imaging features.Case presentationA 31-year-old male presented with mild hypertension, headache, nausea, and vomiting. A sellar/parasellar tumor mass was revealed by magnetic resonance imaging (MRI), while an endocrine work-up found partial hypopituitarism, suggesting that it was a non-functioning pituitary tumor. Antihypertensive therapy and hormone replacement were initiated. Tumor reduction was achieved with transsphenoidal neurosurgery. However, histological diagnosis was not possible due to extensive tissue necrosis. After 4 years of stable disease, the residual tumor showed re-growth requiring gamma knife radiosurgery. Four years after the radiosurgery, MRI showed a significant tumor progression leading to a second neurosurgery. This time, pathological and immunohistochemical findings revealed paraganglioma. Plasma levels of metanephrine and normetanephrine were normal. A gene sequencing panel performed on DNA extracted from blood excluded germline mutations in 17 susceptibility genes. The patient developed new tumor masses in the neck, and the third surgery was performed. Immunohistochemistry demonstrated lack of ATRX (alpha thalassemia/mental retardation syndrome X-linked) protein in tumor cells, indicating an ATRX gene mutation. Molecular genetic analysis performed on tumor DNA revealed a combination of ATRX and TP53 gene abnormalities; this was not previously reported in paraganglioma. MRI and 68Ga-DOTANOC PET/CT revealed the full extent of the disease. Therapy with somatostatin LAR and 177Lu-DOTATATE Peptide Receptor Radionuclide Therapy (PRRT) was initiated.ConclusionAlthough rare, paraganglioma should be considered in the differential diagnosis of sellar/parasellar tumor lesions, even in the absence of typical imaging features. ATRX gene mutation in paraganglioma is an early predictor of malignant behavior and a potential novel therapeutic marker when pharmacological therapy targeting mutated ATRX becomes available.

Dataset Information

'The bubble heart': an unusual natural history told by multimodality imaging- a case report.

Background

Case summary

Discussion

Publications

'The bubble heart': an unusual natural history told by multimodality imaging- a case report.

Similar Datasets

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