Resistance to thyroid hormone (RTH) is a condition caused by a mutation in the thyroid hormone receptor gene. It is rarely reported in individuals with no family history of RTH or in premature infants, and its clinical presentation varies. In our case, a premature infant with no family history of thyroid diseases had a thyroid stimulating hormone level of 85.0 µIU/mL and free thyroxine level of 1.64 ng/dL on a thyroid function test. The patient also presented with clinical signs of hypothyroidism, including difficulties in feeding and weight gain. The patient was treated with levothyroxine; however, only free thyroxine and triiodothyronine levels increased without a decrease in thyroid-stimulating hormone levels. Taken together with thyroid gland hypertrophy observed on a previous ultrasound examination, RTH was suspected and the diagnosis was eventually made based on a genetic test. A de novo mutation in the thyroid hormone receptor β gene in the infant was found that has not been previously reported. Other symptoms included tachycardia and pulmonary hypertension, but gradual improvement in the symptoms was observed after liothyronine administration. This report describes a case involving a premature infant with RTH and a de novo mutation, with no family history of thyroid disease.
Diagnosis ; Goiter ; Humans ; Hypertension, Pulmonary ; Hypertrophy ; Hypothyroidism ; Infant ; Infant, Newborn ; Infant, Premature ; Receptors, Thyroid Hormone ; Tachycardia ; Thyroid Diseases ; Thyroid Function Tests ; Thyroid Gland ; Thyroid Hormone Receptors beta ; Thyroid Hormone Resistance Syndrome ; Thyrotropin ; Thyroxine ; Triiodothyronine ; Ultrasonography ; Weight Gain

Pulmonary artery sarcoma (PAS) is a rare and fatal disease that often mimics chronic thromboembolic pulmonary hypertension (CTEPH); therefore, diagnosis of PAS is often delayed. Herein, a healthy 74-year-old man was presented with a 4-month history of dyspnea. Chest computed tomography showed wall thickening and stenosis in the main pulmonary artery as well as in both proximal pulmonary arteries. In order to differentiate between unusual CTEPH, vasculitis, and PAS, we performed right heart catheterization and pulmonary angiography. The mean pulmonary arterial pressure was 21 mmHg, and there was severe pulmonary artery stenosis. Thrombi on the pulmonary arterial wall lesions were observed in intravascular ultrasound and optical coherence tomography. Furthermore, the patient had a history of deep vein thrombosis. Therefore, we diagnosed unusual CTEPH. After 6 months of rivaroxaban anticoagulation therapy, a chest X-ray revealed a left lower lobe lung mass, and a positron emission tomography later showed hypermetabolic lesions in the main pulmonary artery wall, in both pulmonary arteries walls, in the lung parenchyma, and in the bones. A biopsy of the right proximal humerus lesion revealed undifferentiated intimal sarcoma. Pulmonary sarcoma is rare, but should be considered when differentially diagnosing main pulmonary artery wall thickening and stenosis. A positron emission tomography may aid in this diagnosis.
Aged ; Angiography ; Arterial Pressure ; Biopsy ; Cardiac Catheterization ; Cardiac Catheters ; Constriction, Pathologic* ; Diagnosis ; Dyspnea ; Fluorodeoxyglucose F18* ; Humans ; Humerus ; Hypertension, Pulmonary ; Lung ; Positron-Emission Tomography ; Positron-Emission Tomography and Computed Tomography* ; Pulmonary Artery* ; Rivaroxaban ; Sarcoma* ; Thorax ; Tomography, Optical Coherence ; Ultrasonography ; Vasculitis ; Venous Thrombosis

Pulmonary artery sarcoma (PAS) is a rare and fatal disease that often mimics chronic thromboembolic pulmonary hypertension (CTEPH); therefore, diagnosis of PAS is often delayed. Herein, a healthy 74-year-old man was presented with a 4-month history of dyspnea. Chest computed tomography showed wall thickening and stenosis in the main pulmonary artery as well as in both proximal pulmonary arteries. In order to differentiate between unusual CTEPH, vasculitis, and PAS, we performed right heart catheterization and pulmonary angiography. The mean pulmonary arterial pressure was 21 mmHg, and there was severe pulmonary artery stenosis. Thrombi on the pulmonary arterial wall lesions were observed in intravascular ultrasound and optical coherence tomography. Furthermore, the patient had a history of deep vein thrombosis. Therefore, we diagnosed unusual CTEPH. After 6 months of rivaroxaban anticoagulation therapy, a chest X-ray revealed a left lower lobe lung mass, and a positron emission tomography later showed hypermetabolic lesions in the main pulmonary artery wall, in both pulmonary arteries walls, in the lung parenchyma, and in the bones. A biopsy of the right proximal humerus lesion revealed undifferentiated intimal sarcoma. Pulmonary sarcoma is rare, but should be considered when differentially diagnosing main pulmonary artery wall thickening and stenosis. A positron emission tomography may aid in this diagnosis.
Aged ; Angiography ; Arterial Pressure ; Biopsy ; Cardiac Catheterization ; Cardiac Catheters ; Constriction, Pathologic ; Diagnosis ; Dyspnea ; Fluorodeoxyglucose F18 ; Humans ; Humerus ; Hypertension, Pulmonary ; Lung ; Positron-Emission Tomography ; Positron-Emission Tomography and Computed Tomography ; Pulmonary Artery ; Rivaroxaban ; Sarcoma ; Thorax ; Tomography, Optical Coherence ; Ultrasonography ; Vasculitis ; Venous Thrombosis

Congenital extrahepatic portocaval shunt (CEPS) is a rare anomaly of the mesenteric vasculature in which the intestinal and splenic venous drainage bypasses the liver and drains directly into the inferior vena cava, the left hepatic vein or the left renal vein. This uncommon disease is frequently associated with other malformations and mainly affects females. Here we report a case of pulmonary arterial hypertension associated with CEPS (Abernethy type 1b shunt) in a 20-yr-old man who was incidentally diagnosed during evaluation of multiple nodules of the liver. The patient was treated by inhalation of iloprost (40 microg/day) with improved condition and walking test. Physicians should note that congenital portocaval shunt may cause pulmonary hypertension.
Echocardiography, Doppler ; Humans ; Hypertension, Pulmonary/*diagnosis/drug therapy ; Iloprost/therapeutic use ; Liver/blood supply/radiography ; Magnetic Resonance Imaging ; Male ; Thoracic Arteries/ultrasonography ; Tomography, X-Ray Computed ; Vasodilator Agents/therapeutic use ; Vena Cava, Inferior/*abnormalities/ultrasonography ; Young Adult

This study assessed main pulmonary artery diameter of patients with anthracofibrosis. Patients with anthracofibrosis and CT scans were evaluated after exclusion of patients with co-existing disease. We measured the diameter of the main pulmonary artery (PAD) and ascending aorta (AD) and calculated the pulmonary artery to aorta ratio (APR). The upper reference limit for comparison of PAD was 29 mm. Cut-off values for PAD and APR indicating pulmonary hypertension were 33 mm and 1. We correlated the CT parameters with echocardiographic results. Total 51 patients were included in the analysis. The mean PAD, AD, and APR were 33 mm, 38 mm, and 0.87 respectively. The PAD was larger than the upper reference limit, 29 mm (P<0.001). The PAD was >33 mm in 30 (65%) and the APR was >1 in 9 patients (18%). Of 21 patients with echocardiography, 11 (52%) were found to have pulmonary hypertension. There was no statistical difference in the diagnosis of pulmonary hypertension between echocardiography and CT (P=1.000). In conclusion, main pulmonary artery is dilated in patients with anthracofibrosis more than in the healthy population.
Aged ; Aged, 80 and over ; Aorta, Thoracic/*radiography ; Bronchi/pathology ; Bronchoscopy ; Dilatation ; Female ; Fibrosis ; Humans ; Hypertension, Pulmonary/*diagnosis/ultrasonography ; Male ; Pulmonary Artery/*radiography ; Tomography, X-Ray Computed

Extrinsic compression of the left main coronary artery (LMCA) secondary to pulmonary artery dilatation is a rare syndrome. Most cases of pulmonary artery hypertension but no atherosclerotic risk factors rarely undergo coronary angiography, and hence, diagnoses are seldom made and proper management is often delayed in these patients. We describe a patient that presented with pulmonary hypertension, clinical angina, and extrinsic compression of the LMCA by the pulmonary artery, who was treated successfully by percutaneous coronary intervention. Follow-up coronary angiography showed patent stent in the LMCA in the proximity of the dilated main pulmonary artery. This case reminds us that coronary angiography and percutaneous coronary intervention should be considered in pulmonary hypertension patients presenting with angina or left ventricular dysfunction.
Angina Pectoris/etiology ; Angioplasty, Balloon, Coronary ; Coronary Angiography ; Coronary Stenosis/radiography/therapy ; Coronary Vessels/radiography/*ultrasonography ; Dilatation, Pathologic ; Female ; Humans ; Hypertension, Pulmonary/etiology/radiography ; Middle Aged ; Pulmonary Artery/radiography/*ultrasonography ; Stents ; Tomography, X-Ray Computed ; Ventricular Dysfunction, Left

BACKGROUNDAn echocardiographic right/left ventricular end-diastolic diameter ratio (RV/LV ratio) ≥ 0.9 is an independent predictor of poor prognosis in patients with acute pulmonary embolism. Right ventricular dilation is a common characteristic of both acute pulmonary embolism and idiopathic pulmonary arterial hypertension (IPAH). However, the prognostic value of the RV/LV ratio in patients with IPAH is unknown.

METHODSNinety-five consecutive patients with newly diagnosed IPAH were included, 17 were re-evaluated by echocardiography after 3 - 12 months of targeted therapy. Follow-up data were obtained by telephone interviews and review of the patients' records.

RESULTSHigher RV/LV ratios were associated with greater functional impairment. The RV/LV ratio was positively correlated with pulmonary vascular resistance (r = 0.549, P < 0.001) and plasma N-terminal pro-brain natriuretic peptide level (r = 0.575, P < 0.001), but negatively correlated with cardiac output (r = -0.517, P < 0.001) and mixed venous oxygen saturation (r = -0.599, P < 0.001). Twenty-seven patients died during follow-up period. Sensitivity and specificity of an RV/LV ratio ≥ 0.84 for predicting death were 85.2% and 51.5%, respectively. The RV/LV ratio and body mass index were independent predictors of death by multivariate Cox analysis (P < 0.01). A baseline RV/LV ratio ≥ 0.84 or a further increase in the RV/LV ratio during targeted therapy indicated a poor prognosis (P < 0.01).

CONCLUSIONThe RV/LV ratio helps to assess the severity of IPAH and may serve as an independent predictor of prognosis in patients with IPAH.

Adolescent ; Adult ; Age Factors ; Blood Pressure ; physiology ; Body Mass Index ; Familial Primary Pulmonary Hypertension ; Female ; Heart Ventricles ; diagnostic imaging ; pathology ; Humans ; Hypertension, Pulmonary ; diagnostic imaging ; pathology ; Male ; Prognosis ; Retrospective Studies ; Ultrasonography ; Young Adult

A 29-year-old woman in her 8th week of pregnancy was referred to our hospital for swelling in the lower extremities, rapid onset of dyspnea (1 hr) and pre-syncope. Severe right ventricular dysfunction and moderate pulmonary hypertension were detected using 2-dimentional Doppler echocardiography. In addition, left calf vein and proximal thromboses were detected by venous compression ultrasound imaging. After successful thrombolytic treatment, the patient quickly recovered and was discharged from hospital on subcutaneous low-molecular-weight heparin. She delivered a normal, healthy infant at full-term (40 weeks).
Adult ; Dyspnea ; Echocardiography, Doppler ; Female ; Heparin, Low-Molecular-Weight ; Humans ; Hypertension, Pulmonary ; Infant ; Lower Extremity ; Pregnancy* ; Pulmonary Embolism* ; Thrombolytic Therapy ; Thrombosis ; Ultrasonography ; Veins ; Venous Thrombosis* ; Ventricular Dysfunction, Right

Congenital absence of the portal vein (CAPV) is a rare malformation in which intestinal and splenic venous flow bypasses the liver and drains directly into the systemic circulation via a congenital portosystemic shunt. We describe two cases of CAPV presenting as pulmonary hypertension that were initially suspected as primary pulmonary hypertension. However, subsequent ultrasonography and CT detected the absence of a portal vein and the presence of a portosystemic shunt. Pulmonary hypertension is a recognized complication of liver disease and portal hypertension. However, these two cases illustrate that CAPV may result in pulmonary hypertension without liver disease or portal hypertension.
Hypertension, Portal ; Hypertension, Pulmonary* ; Liver ; Liver Diseases ; Portal Vein* ; Portasystemic Shunt, Surgical ; Ultrasonography

The Korean hemorrhagic fever is an acute febrile disease, which characteristically accompanies high fever, abdominal pain, headache, vomiting, bleeding tendency and renal failure. The Korean hemorrhagic fever displays various clinical manifestations and courses. Complication includes hypertension, intra-organ bleeding, respiratory problems including pulmonary edema, pituitary insufficiency, infection and anemia. In rare cases, cardiac complications, such as acute myocarditis and atrioventricular conduction block were reported. In addition, an acute pancreatitis, which accompanied serum amylase and lipase elevation, was rarely reported as one of the cause of abdominal pain in the patients with the Korean hemorrhagic fever. We report a patient, who were diagnosed with Korean hemorrhagic fever and displayed persistent abdominal pain, elevation of serum amylase and lipase, and detection of diffuse edema of the pancreas and fluid collection in the retroperitoneal space, especially around the pancreas and kidney, in the ultrasound and CT scan.
Abdominal Pain ; Amylases ; Anemia ; Atrioventricular Block ; Edema ; Fever ; Headache ; Hemorrhage ; Hemorrhagic Fever with Renal Syndrome* ; Humans ; Hypertension ; Hypopituitarism ; Kidney ; Lipase ; Myocarditis ; Pancreas ; Pancreatitis* ; Pulmonary Edema ; Renal Insufficiency ; Retroperitoneal Space ; Tomography, X-Ray Computed ; Ultrasonography ; Vomiting