26584481 Visualization

We present the case of a 22 Age - year Age - old Age woman Sex who was diagnosed History in History childhood History with History type History IIb History VHL History , with known multiple History retinal History angiomas History , pancreatic History cysts History , and spinal History and History cerebellar History hemangioblastomas History .
She was admitted Clinical_event to our hospital Nonbiological_location complaining of progressive Detailed_description dyspnea Sign_symptom and palpitations Sign_symptom .
On examination Diagnostic_procedure , her blood Diagnostic_procedure pressure Diagnostic_procedure was 159/119 Lab_value mm Lab_value Hg Lab_value and her pulse Diagnostic_procedure was 123 Lab_value bpm Lab_value .
Physical Diagnostic_procedure examination Diagnostic_procedure revealed a systolic Detailed_description murmur Sign_symptom at the mitral Biological_structure focus Biological_structure with irradiation Biological_structure to Biological_structure the Biological_structure axilla Biological_structure and pulmonary Sign_symptom rales Sign_symptom .
Electrocardiography Diagnostic_procedure revealed no Lab_value remarkable Lab_value findings Lab_value , except for sinus Detailed_description tachycardia Sign_symptom .
Laboratory Diagnostic_procedure tests Diagnostic_procedure showed an elevated Lab_value N Detailed_description - terminal Detailed_description pro Diagnostic_procedure - brain Diagnostic_procedure natriuretic Diagnostic_procedure peptide Diagnostic_procedure and chest Biological_structure X Diagnostic_procedure - ray Diagnostic_procedure showed signs of pulmonary Sign_symptom interstitial Sign_symptom edema Sign_symptom .
The patient was admitted Clinical_event to the Department Biological_structure of Biological_structure Cardiology Biological_structure with the diagnosis of acute Detailed_description decompensated Detailed_description heart Disease_disorder failure Disease_disorder .
Transthoracic Detailed_description echocardiography Diagnostic_procedure showed a dilated Sign_symptom left Biological_structure ventricle Biological_structure with severely Lab_value depressed Lab_value ejection Diagnostic_procedure fraction Diagnostic_procedure due to generalized Detailed_description hypokinesia Sign_symptom and a mild Severity mitral Sign_symptom regurgitation Sign_symptom (fig.1a).
During admission, the patient had several Detailed_description episodes Detailed_description of paroxysmal Detailed_description dyspnea Sign_symptom despite treatment with β Medication - blockers Medication and diuretics Medication .
Due to the clinical suspicion of adrenal Disease_disorder gland Disease_disorder disease Disease_disorder , 24 Detailed_description - hour Detailed_description urinary Biological_structure catecholamine Diagnostic_procedure and metanephrine Diagnostic_procedure tests were requested.
Cardiac Biological_structure MRI Diagnostic_procedure was performed in order to complete the cardiomyopathy Diagnostic_procedure study Diagnostic_procedure , and confirmed the echocardiographic findings as well as revealed an incidental finding of a great Detailed_description left Biological_structure renal Biological_structure mass Sign_symptom .
The 24-hour urine laboratory Coreference tests Coreference showed markedly Lab_value elevated Lab_value levels of norepinephrine Diagnostic_procedure , total Diagnostic_procedure catecholamines Diagnostic_procedure , normetanephrine Diagnostic_procedure and metanephrine Diagnostic_procedure with normal epinephrine Diagnostic_procedure values: 24-hour norepinephrine Coreference 468 Lab_value μg Lab_value (normal range: 23-105), 24-hour epinephrine Coreference 13 Lab_value μg Lab_value (normal range: 4-20), 24-hour total Coreference catecholamines Coreference 658 Lab_value μg Lab_value (normal range: 217-575), 24-hour normetanephrine Coreference 2,988 Lab_value μg Lab_value (normal range: 105-354), 24-hour total Coreference metanephrine Coreference 3,013 Lab_value μg Lab_value (normal range: 0-1,000).
Therefore, an abdominal Biological_structure MRI Diagnostic_procedure was performed, which showed the presence of two Detailed_description cystic Detailed_description masses Sign_symptom (fig.2) located at the left Biological_structure hypochondrium Biological_structure .
Surgical Detailed_description resection Therapeutic_procedure of both Coreference masses Coreference was performed (after α Therapeutic_procedure - blockade Therapeutic_procedure with phenoxybenzamine Medication and β Therapeutic_procedure - blockade Therapeutic_procedure with propranolol Medication ) through a laparoscopic Therapeutic_procedure approach Therapeutic_procedure , confirming the diagnosis of pheochromocytoma Disease_disorder and clear Detailed_description cell Detailed_description renal Therapeutic_procedure carcinoma Therapeutic_procedure on histology Diagnostic_procedure .
During follow Clinical_event - up Clinical_event , blood Diagnostic_procedure pressure Diagnostic_procedure and heart Diagnostic_procedure rate Diagnostic_procedure values normalized Lab_value ( 124/77 Lab_value mm Lab_value Hg Lab_value , 78 Lab_value bpm Lab_value ), 24 Detailed_description - hour Detailed_description urinary Biological_structure catecholamine Diagnostic_procedure values returned to normal Lab_value range Lab_value ( norepinephrine Diagnostic_procedure 69 Lab_value μg/24 h, total Diagnostic_procedure catecholamine Diagnostic_procedure 221 Lab_value μg/24 h, normetanephrine Diagnostic_procedure 202 Lab_value μg/24 h and total Diagnostic_procedure metanephrine Diagnostic_procedure 259 Lab_value μg/24 h) and the patient had no new episodes of palpitations Sign_symptom or dyspnea Sign_symptom .
Six Date months Date after Date surgical resection, echocardiography Diagnostic_procedure was repeated and showed a left Biological_structure ventricle Biological_structure with normal Sign_symptom diameters Sign_symptom and preserved Lab_value ejection Diagnostic_procedure fraction Diagnostic_procedure (fig.1b).
Genetic Diagnostic_procedure analysis Diagnostic_procedure revealed a germline Sign_symptom mutation Sign_symptom ( exon Detailed_description 3 Detailed_description deletion Detailed_description ) of the VHL Detailed_description tumor Detailed_description suppressor Detailed_description gene Detailed_description on the short Detailed_description arm Detailed_description of Detailed_description chromosome Detailed_description 3 Detailed_description .
As the patient had no Family_history family Family_history history Family_history of Family_history VHL Family_history , it was concluded that it was a de Detailed_description novo Detailed_description mutation Detailed_description .