Objectives: To analyze the reasons of missed diagnosis or misdiagnosis on anomalous origin of left coronary artery from pulmonary artery (ALCAPA) by echocardiography. Methods: This is a retrospective study. Patients with ALCAPA who underwent surgical treatment in Union Hospital, Tongji Medical College, Huazhong University of Science and Technology from August 2008 to December 2021 were included. According to the results of preoperative echocardiography and surgical diagnosis, the patients were divided into confirmed group or missed diagnosis/misdiagnosis group. The results of preoperative echocardiography were collected, and the specific echocardiographic signs were analyzed. According to the experience of the doctors, the echocardiographic signs were divided into four types, namely clear displayed, vague/doubtful displayed, no display and no notice, and the display rate of each sign was calculated (display rate=number of clearly displayed cases/total number of cases×100%). By referring the surgical data, we analyzed and recorded the pathological anatomy and pathophysiological characteristics of the patients, and the rate of missed diagnosis/misdiagnosis of echocardiography in patients with different characteristics was compared. Results: A total of 21 patients were enrolled, including 11 males, aged 1.8 (0.8, 12.3) years (range 1 month to 47 years). Except for one patient with anomalous origin of left anterior descending artery, the others were all originated from the main left coronary artery (LCA). There were 13 cases of ALCAPA in infant and children, and 8 cases of adult ALCAPA. There were 15 cases in the confirmed group (diagnostic accuracy was 71.4% (15/21)), and 6 cases in the missed diagnosis/misdiagnosis group (three cases were misdiagnosed as primary endocardial fibroelastosis, two cases were misdiagnosed as coronary-pulmonary artery fistula; and one case was missed diagnosis). The working years of the physicians in the confirmed group were longer than those in the missed diagnosis/misdiagnosed group ((12.8±5.6) years vs. (8.3±4.7) years, P=0.045). In infants with ALCAPA, the detection rate of LCA-pulmonary shunt (8/10 vs. 0, P=0.035) and coronary collateral circulation (7/10 vs. 0, P=0.042) in confirmed group was higher than that in missed diagnosis/misdiagnosed group. In adult ALCAPA patients, the detection rate of LCA-pulmonary artery shunt was higher in confirmed group than that in missed diagnosis/misdiagnosed group (4/5 vs. 0, P=0.021). The missed diagnosis/misdiagnosis rate of adult type was higher than that of infant type (3/8 vs. 3/13, P=0.410). The rate of missed diagnosis/misdiagnosis was higher in patients with abnormal origin of branches than that of abnormal origin of main trunk (1/1 vs. 5/21, P=0.028). The rate of missed diagnosis/misdiagnosis in patients with LCA running between the main and pulmonary arteries was higher than that distant from the main pulmonary artery septum (4/7 vs. 2/14, P=0.064). The rate of missed diagnosis/misdiagnosis in patients with severe pulmonary hypertension was higher than that in patients without severe pulmonary hypertension (2/3 vs. 4/18, P=0.184). The reasons with an echocardiography missed diagnosis/misdiagnosis rate of≥50% included that (1) the proximal segment of LCA ran between the main and pulmonary arteries; (2) abnormal opening of LCA at the right posterior part of the pulmonary artery; (3) abnormal origin of LCA branches; (4) complicated with severe pulmonary hypertension. Conclusions: Echocardiography physicians' knowledge of ALCAPA and diagnostic vigilance are critical to the accuracy of diagnosis. Attention should be paid to the pediatric cases with no obvious precipitating factors of left ventricular enlargement, regardless of whether the left ventricular function is normal or not, the origin of coronary artery should be routinely explored.
Male ; Adult ; Infant ; Child ; Humans ; Bland White Garland Syndrome/diagnostic imaging* ; Pulmonary Artery/diagnostic imaging* ; Retrospective Studies ; Missed Diagnosis ; Hypertension, Pulmonary ; Echocardiography ; Coronary Vessel Anomalies/diagnostic imaging*

Heart Defects, Congenital/diagnosis* ; Humans ; Hypertension ; MicroRNAs/genetics* ; Pulmonary Arterial Hypertension ; Pulmonary Artery/diagnostic imaging*

Algorithms ; Familial Primary Pulmonary Hypertension ; Humans ; Hypertension, Pulmonary/diagnosis* ; Pulmonary Arterial Hypertension

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

BACKGROUND AND OBJECTIVES: Udenafil, a new phosphodiesterase-5 inhibitor (PDE5i), has been used to treat erectile dysfunction. Given the proven benefit of PDE5i in pulmonary arterial hypertension (PAH), we evaluated serial hemodynamic changes after single udenafil administration to determine the appropriate therapeutic dose. METHODS: Eighteen patients were randomly allocated into one of 3 groups: placebo, udenafil 50 mg (U50), and udenafil 100 mg (U100). Diagnosis for inclusion was idiopathic PAH or PAH associated with connective tissue disease. Patients with any contraindication to PDE5i, and/or PDE5i treatment in the past 1 month were excluded. Continuous hemodynamic monitoring was performed by placing a Swan-Ganz catheter. Information on cardiac index (CI), mean pulmonary arterial pressure (mPAP), mean systemic arterial pressure (mSAP), pulmonary arterial wedge pressure (PAWP), and pulmonary vascular resistance index (PVRI) was obtained for 4 hours after drug administration. RESULTS: The mPAP significantly decreased in both the U50 and U100 (−11 mmHg and −8 mmHg from baseline, respectively, p < 0.1). The mSAP also decreased in both U50 and U100; however, the decrease was greater in the U100 (Δ=−8.5 mmHg and Δ=−14.0 mmHg). CI increased in the U50, but decreased in the U100. Although PVRI decreased in both, statistical significance was only achieved in the U50 compared to placebo. PAWP was stable during monitoring. U50 had at least 4 hour-effect after administration. Only 2 patients with U100 experienced mild adverse events. CONCLUSIONS: This is the first demonstration of the acute hemodynamic changes induced by udenafil. U50 is considered an optimal dose for treating PAH with more than 4-hour treatment effect. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT01553721.
Arterial Pressure ; Catheters ; Connective Tissue Diseases ; Cyclic Nucleotide Phosphodiesterases, Type 5 ; Diagnosis ; Erectile Dysfunction ; Hemodynamics ; Humans ; Hypertension ; Hypertension, Pulmonary ; Male ; Phosphodiesterase 5 Inhibitors ; Pulmonary Wedge Pressure ; Vascular Resistance

BACKGROUND: To study the characteristics of ventricular function in Pulmonary Hypertension (PH) Patients with different shape of Interventricular Septum (IVS) by cardiac magnetic resonance (CMR). METHODS: 36 PH patients diagnosed by right heart catheterization accepted CMR. According to the morphology of IVS, the patients were divided into two groups: the non-deformation group (10 patients) and the deformation group (26 patients). The ventricular function parameters were as follows: RV and LV end-diastolic volume index (EDVI), end-systolic volume index (ESVI), stroke volume index (SVI), cardiac index (CI), ejection fraction (EF), and myocardial mass index (MMI). RESULTS: ANOVA analysis showed that the differences of RVEDVI, RVESVI, RVSVI, RVCI, RVEF, RVMMI, LVEDVI, LVESVI, LVSVI and LVCI were significant among the three groups. Compared with control group, RVSVI (P=0.017), RVEF (P<0.001), LVEDVI (P=0.048) and LVSVI (P=0.015) decreased in IVS non-deformation group. Compared with IVS non-deformation group, RVEDVI (P<0.001), RVESVI (P<0.001), RVCI (P=0.002) and RVMMI (P=0.017) were increased in IVS deformation group; while RVEF (P=0.001), LVEDVI (P=0.003), LVSVI (P<0.001) and LVCI (P=0.029) were decreased. Compared with the control group, RVEDVI (P<0.001), RVESVI (P<0.001), RVCI (P=0.004) and RVMMI (P=0.003) were increased in the IVS deformation group, while RVEF (P<0.001), LVEDVI (P<0.001), LVESVI (P<0.001), LVSVI (P<0.001), LVCI (P<0.001) were decreased. CONCLUSIONS Ventricular function is different in PH Patients with different IVS shape. The IVS shape can represent the changes of ventricular function in PH patients.
Adult ; Aged ; Female ; Heart ; diagnostic imaging ; physiopathology ; Humans ; Hypertension, Pulmonary ; diagnosis ; diagnostic imaging ; physiopathology ; Lung Neoplasms ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Stroke Volume ; Ventricular Function ; Ventricular Septum ; diagnostic imaging ; physiopathology

Aspiration of meconium produces a syndrome (Meconium Aspiration Syndrome MAS) characterized by hypoxia, hypercapnia, and acidosis. Perinatal hypoxia, acute airway obstruction, pulmonary inflammation, pulmonary vasoconstriction, pulmonary hypertension, and surfactant inactivation all play a role in the pathogenesis of MAS. Most aspiration of meconium probably occurs before birth. Following aspiration, meconium may migrate to the peripheral airway, usually take about 2 hours as demonstrated in animal experiment, leading to airway obstruction and subsequent lung inflammation and pulmonary hypertension. The presence of meconium in the endotracheal aspirate automatically establishes the diagnosis of MAS. Clinical diagnosis can be made in any infant born with meconium staining of amniotic fluid who develops respiratory distress at or shortly after birth and has positive radiographic findings. Prevention of intrauterine hypoxia, early cleaning (suctioning) of the airway, and prevention and treatment of pulmonary hypertension are essential in the management of MAS. Recent studies suggest that avoidance of post-term delivery may reduce the risk of intrauterine hypoxia and the incidence of MAS. Routine intrapartum naso-and oropharyngeal suction does not appear to affect the incidence and outcome of MAS. Endotracheal suction at birth is considered a controversial procedure and only reserved for infants who have severe retraction at birth suggesting an upper airway obstruction. High frequency oscillatory ventilation with nitric oxide or surfactant may improve mortality. Mortality of MAS has improved; the causes of death are related primarily to hypoxic respiratory failure associated with irreversible pulmonary hypertension. Morbidity is affected mostly by perinatal hypoxia.
Acidosis ; Airway Obstruction ; Amniotic Fluid ; Animal Experimentation ; Anoxia ; Cause of Death ; Diagnosis ; Female ; Humans ; Hypercapnia ; Hypertension, Pulmonary ; Incidence ; Infant ; Infant, Newborn ; Meconium Aspiration Syndrome* ; Meconium* ; Mortality ; Nitric Oxide ; Parturition ; Pneumonia ; Respiratory Insufficiency ; Resuscitation* ; Suction ; Vasoconstriction ; Ventilation

BACKGROUND/AIMS: Pulmonary endarterectomy (PEA) is the gold standard for treating chronic thromboembolic pulmonary hypertension (CTEPH) in Western countries. The aim of this study was to investigate the long-term outcomes of performing PEA on CTEPH patients in comparison with medical therapy at a single Korean center. METHODS: This retrospective study included 88 CTEPH patients. These patients were classified into the PEA group (n = 37) or non-PEA group (i.e., medical therapy; n = 51). The clinical characteristics, hemodynamic data, and long-term survival rates were compared. Independent prognostic factors for CTEPH were also investigated. RESULTS: CTEPH was not associated with either gender, and the mean age at diagnosis was 53.3 ± 13.7 years. Echocardiography revealed that the mean peak velocity of the tricuspid regurgitation jet was 4.2 ± 0.7 m/sec and the mean pulmonary arterial pressure was 51.7 ± 15.1 mmHg. The PEA and non-PEA groups demonstrated no significant differences, except in terms of the right ventricular end-diastolic diameter. The survival rates of the PEA group were significantly higher than the non-PEA group at 1, 3, 5, and 10 years (p = 0.032). Multivariate analyses indicated that World Health Organization class IV and PEA were significant predictors of poorer and better outcomes, respectively. CONCLUSIONS: PEA demonstrates more favorable effects on long-term survival than medical therapy in Korean CTEPH patients who were considered operable.
Arterial Pressure ; Diagnosis ; Echocardiography ; Endarterectomy ; Hemodynamics ; Humans ; Hypertension, Pulmonary* ; Korea ; Multivariate Analysis ; Peas ; Pulmonary Embolism ; Retrospective Studies ; Survival Rate ; Tricuspid Valve Insufficiency ; World Health Organization

Obstructive sleep apnea is a common disorder in which respiratory flow decreases or disappears despite respiratory effort due to occlusion of the upper respiratory tract during sleep. Oxidative stress and systemic inflammatory reaction induced by the obstruction cause complications such as hypertension, coronary artery disease, and diabetes and increase cancer incidence. Furthermore, in patients with interstitial lung disease, obstructive sleep apnea has a very high prevalence and is thought to have a close pathophysiological and clinical correlation. In other words, obstructive sleep apnea could be the cause or a complication of interstitial lung disease ; when these two afflictions coexist, the prognosis of the patient is worse. In patients with interstitial lung disease with obstructive sleep apnea, CPAP treatment significantly improved sleep and quality of life, as well as improved morbidity and mortality in a recent study. Therefore, early diagnosis and treatment of obstructive sleep apnea in patients with interstitial lung disease are very important, and additional studies designed to include patients with idiopathic pulmonary fibrosis as well as patients with advanced interstitial lung disease should be performed.
Coronary Artery Disease ; Early Diagnosis ; Humans ; Hypertension ; Idiopathic Pulmonary Fibrosis ; Incidence ; Lung Diseases, Interstitial* ; Mortality ; Oxidative Stress ; Prevalence ; Prognosis ; Quality of Life ; Respiratory System ; Sleep Apnea, Obstructive* ; Sleep Wake Disorders

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