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Abstract Background Myopathy, lactic acidosis and inherited sideroblastic anemia (MLASA) are a group of rare intriguing disorders with wider pathophysiological implications. One of the causes of MLASA is the mutation in PUS1 gene that encodes for pseudouridine synthase. This PUS1 mutation results in MLASA in which anemia and myopathy predominate. Severe pulmonary arterial hypertension has not been previously reported in patients with PUS1 gene mutation. Case report A 17 year old girl with congenital sideroblastic anemia presented with worsening of breathlessness. Severe pulmonary artery hypertension was documented on investigations. A homozygous variant in exon 3 of gene PUS1,( chromosome 12:g.131932301 C > T c.430 C > T) was found on sanger sequencing. Conclusion We document severe pulmonary arterial hypertension in a patient of congenital sideroblastic anemia from PUS1 gene. We hypothesis that cross talk with TGFb pathways might occur in PUS1 mutation, and that might cause severe PAH. This observation might have therapeutic implications.

Pulmonary artery sarcomas (PAS) are rare tumours causing an insidiously progressive obstruction of the pulmonary circulation. The clinical presentation is often indistinguishable from chronic thromboembolic pulmonary hypertension (CTEPH). However, the atypical appearance of a heterogeneous filling defect in CT pulmonary angiography (CTPA) should prompt further investigation.

Background: Pulmonary Hypertension (PH) is a condition with several cardiopulmonary etiologies that has the potential of progressing to right heart failure without proper intervention. After a history, physical exam, and investigations, cases of suspected PH typically undergo imaging via a (TTE). This is a resource-intensive procedure that is less accessible in remote communities. However, point of care ultrasound (POCUS), a portable ultrasound administered at the bedside, has potential to aid in the diagnostic process of PH. Methods: The MEDLINE, , and CENTRAL databases were searched to screen the intersection of POCUS and PH. Studies involved adult patients, and only English articles were accepted. Reviews, case reports, unfinished research, and conference abstracts were excluded. Our aim was to identify primary studies that correlated POCUS scan results and additional clinical findings related to PH. Results: Nine studies were included after our search. In these studies, POCUS was effective in identifying dilatation of inferior (IVC); internal jugular vein (IJV); and hepatic, portal, and veins in patients with PH. The presence of pericardial effusion, effusion, or b-lines on POCUS are also associated with PH. Conclusions: This review suggests important potential for the use of POCUS in the initial screening of PH. IVC and basic cardiopulmonary POCUS exams are key for PH screening in patients with . Right-heart dilatation can be visualized, and peripheral veins may be scanned based on clinical suspicion. POCUS offers screening as an extension of a physical exam, with direct visualization of cardiac morphology. However, more studies are required to develop a statistically validated POCUS exam for PH diagnosis. More studies should also be conducted at the primary-care level to evaluate the value of screening using POCUS for PH in less-differentiated patients.

The article presents an observation of a rare benign lymphoproliferative disease — Castleman’s disease, with pronounced systemic symptoms. The clinical case is of interest not only for the rarity of pathology, but also for the peculiarities of clinical manifestations, including paraneoplastic pseudosclerodermic clinical and immunological syndrome, which was not previously described in the context of Castleman’s disease, Raynaud’s syndrome, severe pulmonary hypertension and a suspected (not proven morphologically) variant of extranodal lesion with its previously also notobserved localization in the sigmoid colon wall.

Cigarette combustion has the potential to generate over 7000 chemicals, the majority of which are reactive free radicals that are known to trigger pro-inflammatory and carcinogenic responses. Numerous contemporary investigations have proposed that the pathophysiological and cellular mechanisms underlying the release of extracellular vesicles (EVs) in response to cigarette smoke (CS) may serve as potential pathways for CS-induced pathogenesis, while also reflecting the physiological state of the originating cells. This review provides a concise overview of the pathophysiological mechanisms linked to CS-induced EVs in various lung diseases, including chronic obstructive pulmonary disease, lung cancer, pulmonary fibrosis, and pulmonary hypertension. Additionally, it explores the potential and prospects of EVs as diagnostic biomarkers for CS-related lung diseases.

Abstract Background Pulmonary hypertension (PH) is a serious complication with complex pathogenesis in the natural history of chronic obstructive pulmonary disease COPD, with a progressively increasing frequency with a meanwhile decreasing in functional capacity. Purpose Assessment of the incidence, pathogenesis, peculiarities, and complications of PH in COPD in geriatric population worldwide. Methods We performed an analysis of randomized, retrospective, and prospective clinical, case-control and observational studies, published at the international level, according to the subject studied and target population. Four hundred ninety-seven full articles were identified after the search through engine Google Search and databases PubMed, Hinari, SpringerLink, and Scopus (Elsevier) according to the keywords and subsequent filters. Results Depending on various factors, like the population examined, the definition used for mPAP (mPAP> 20 mm Hg or ≥25 mm Hg), the severity of the lung disease, and the method of measuring PAP, a varied incidence of COPD patients with PH complication was discovered, namely 10–91%. PH prevalence increases with the COPD severity. The presence of PH is associated with acute exacerbations of COPD, reduced survival, and increasing expenses for healthcare programs. Mild to moderate levels of PH (mPAP 25–34 mm Hg) are relatively common in COPD and usually are associated with severe airflow obstruction or parenchymal destruction. Only a minority of patients (1–5%) have severe PH (mPAP ≥35 mm Hg). Conclusions Diagnosis of PH in COPD is difficult, especially in a mild form, and requires a clinical approach associated with a comprehensive set of investigations for confirming the etiology, evaluation of the functional and hemodynamical impairment severity, and important factors in the appropriate treatment election.

Abstract Background NKX2-5 variant in atrial septal defect patients has been reported. However, it is not yet been described in the Southeast Asian population. Here, we screened the NKX2-5 variants in patients with atrial septal defect (ASD) in the Indonesian population. Method We recruited 97 patients with ASD for genetic screening of the NKX2-5 variant using Sanger sequencing. Results We identified three variants of NKX2-5: NM_004387.4:c.63A>G at exon 1, NM_004387.4:c.413G>A, and NM_004387.4:c.561G>C at exon 2. The first variant is commonly found (85.6%) and benign. The last two variants are heterozygous at the same locus. These variants are rare (3.1%) and novel. Interestingly, these variants were discovered in familial atrial septal defects with a spectrum of arrhythmia and severe pulmonary hypertension. Conclusion Our study is the first report of the NKX2-5 variant in ASD patients in the Southeast Asian population, including a novel heterozygous variant: NM_004387.4:c.413G>A and NM_004387.4:c.561G>C. These variants might contribute to familial ASD risk with arrhythmia and severe pulmonary hypertension. Functional studies are necessary to prove our findings.

Hesham Afify,1,2 Alexander Kong,1,2 Jopher Bernal,1,2 Islam Y Elgendy3 1Department of Internal Medicine, University of Central Florida HCA Healthcare GME, Greater Orlando, FL, USA; 2Department of Internal Medicine, University of Central Florida College of Medicine, Orlando, FL, USA; 3Division of Cardiovascular Medicine, Gill Heart Institute, University of Kentucky, Lexington, KY, USACorrespondence: Islam Y Elgendy, Division of Cardiovascular Medicine, Gill Heart Institute, University of Kentucky, Lexington, KY, USA, Email iyelgendy@gmail.comAbstract: Pulmonary hypertension (PH) is a heterogeneous disease characterized by an elevated mean pulmonary artery pressure of 20 mm Hg or above. PH is a prevalent condition among women of reproductive age and is linked with poor prognosis during pregnancy. Pregnancy is a stressful event and complicates the management and prognosis in patients with PH. In this review, we discuss the pathogenesis, clinical presentation as well as therapeutic options for PH during pregnancy. We also highlight knowledge gaps to guide future research.Keywords: pulmonary hypertension, pulmonary arterial hypertension, pregnancy, women

Waldenström macroglobulinemia (WM) is a low-grade B-cell clonal disorder with lymphoplasmacytic bone marrow involvement and monoclonal immunoglobulin M (IgM) with poor prognosis. Clinical features include anemia, thrombocytopenia, hepatosplenomegaly, lymphadenopathy and hyperviscosity. We report the case of a 42-year-old male who presented with unexplained weight loss. The diagnosis of WM was established after morphological and immunohistochemical examination of the patient's bone marrow along with an elevated serum IgM level. He started chemotherapy with cyclophosphamide, bortezomib, dexamethasone and, four months later, rituximab was added. Five months later the patient presented with relapse of the hematological disease, hyperviscosity syndrome and acute right heart failure. Echocardiography showed a dilated right ventricle with decreased global systolic function and severe systolic pulmonary artery pressure, with normal left cardiac function and volumes. Despite maximal medical therapy, the patient died in day six of hospitalization. This case is distinguished by the rapidly evolving rare haematological cancer despite optimal chemotherapy and a multidisciplinary approach associated with chemotherapy-related late right heart dysfunction in a young man, without any cardiovascular risk factors or previous myocardial disease.

Abstract Background Acute pulmonary thromboembolism (PTE) is one of the serious medical issues with higher prevalence and mortality rates. As mentioned in several medical reports, most of the chest pain patients, visiting the emergency departments, are usually diagnosed with either acute PTE, acute coronary syndromes, or acute aortic syndromes. The current study aimed to study the risk factors and explore the echocardiographic findings in patients with PTE. Results Forty patients with acute pulmonary embolism were enrolled in the study. Echocardiography and computed tomography pulmonary angiography (CTPA) were evaluated for all participants. The echocardiography showed that 29 patients (72.5%) had echocardiographic findings suggestive of acute PTE. Twenty-four patients (60%) had tricuspid regurge. Twenty-one patients (52.5%) had dilated right ventricle (RV). Also, 13 patients (32.5%) had an echocardiographic finding of pulmonary hypertension. Furthermore, ten patients (25%) had McConnell’s sign, and 21 patients (52.5%) had RV systolic dysfunction where only two (5%) showed RV thrombosis. Echocardiographic data of the eight high-risk patients showed that 6 patients (75%) had TR, 8 patients (100%) had dilated RV, 5 patients (62.5%) had pulmonary hypertension, 8 patients (100%) had McConnell’s sign, one patient (12.5%) had RV thrombus, and 8 patients (100%) had RV systolic dysfunction. Conclusion The results revealed that thrombus in the main pulmonary trunk was a high-risk factor for patients with acute pulmonary embolism. The current study suggested that echocardiography is an important bedside imaging tool for the diagnosis of PTE. Echocardiography could detect the tricuspid regurge, pulmonary hypertension, McConnell’s sign, RV dilatation, thrombosis, and dysfunction. Furthermore, echocardiography was considered a non-invasive test for rapid diagnosis of PTE and determining the degree of the risk category (high- or low-risk patients) specially with the presence of McConnell’s sign, dilated RV, and RV systolic dysfunction.

Abstract Background Co-occurrence of Type II Abernethy malformation (AM) with Type 1 pulmonary hypertension (PH) is extremely rare. In these patients, management of AM leads to reversal of PH. Case presentation We report a case of 24-year-old male that presented with fever and dyspnea of insidious-onset. Initial X-ray chest revealed pulmonary edema, prominent pulmonary knuckle, and dilated right descending pulmonary artery. Two-dimensional echocardiography suggested raised pulmonary artery systolic pressure (145 mmHg) and pulmonary angiogram revealed findings suggestive of Type 1 PH. Treatment with Tab. Tadalafil-Bosentan (20/5 mg, thrice daily) was initiated, but no major relief was obtained. On day 10, dyspnea worsened. Routine ultrasound revealed splenomegaly. Further evaluation with Doppler of the portal vein was suggestive of portal hypertension, and arterial ammonia was found to be raised. Contrast-enhanced computed tomography of abdomen and pelvis demonstrated a single dilated (1.3 cm) and torturous venous shunt between right internal iliac vein and superior mesenteric vein. Thus, a definitive diagnosis of Type II AM was reached. The patient was stabilized and subjected to the shunt closure with ASD Cocoon stent graft and recovered well. Conclusion Our case demonstrates a rare but reversible cause of PH. Type II AM should be included in the differential diagnosis of a patient presenting with dyspnea and provisionally diagnosed as a case of PH.

Background Chest radiographs can identify important abnormalities in patients undergoing diagnostic evaluation for cardiovascular diseases. Cardiomegaly often reflects cardiac chamber dilation, or cardiac muscle hypertrophy, or both conditions. The clinical implications of cardiomegaly depend on the underlying clinical disorder. Does cardiomegaly have any clinical, laboratory, echocardiographic, and right heart catheterization associations in patients undergoing evaluation for pulmonary hypertension? Methods Patients referred to a pulmonary vascular disease clinic for possible pulmonary hypertension underwent a comprehensive evaluation that included right heart catheterization. These patients also had chest radiographs, laboratory studies, and echocardiograms. The patients were divided into two groups based on the presence or absence of cardiomegaly. Results This study included 102 patients (63.7% female) with a mean age of 62.3 ± 15.0 years. Patients with cardiomegaly (n = 64) had elevated BNP, BUN, and creatinine levels. They had elevated right atrial pressures, right ventricular pressures, and pulmonary artery pressures and reduced cardiac indices and reduced mixed venous oxygen saturations. There were no differences in echocardiographic parameters between the two groups. Conclusions This study demonstrates that the presence of cardiomegaly on chest radiographs has important clinical implications, including increased BNP levels and increased right heart pressures, in patients undergoing evaluation for pulmonary hypertension. Consequently, the presence of cardiomegaly supports the need for additional evaluation, including right heart catheterization, and provides useful information for primary care physicians and specialists.

The clinical features of cardiac myxoma vary significantly from asymptomatic to severe cardiovascular complications like atrioventricular valve obstruction and thromboembolism depending on the location, size, and mobility of the tumor. Echocardiography is the diagnostic study of choice, and surgical resection is the method of choice to prevent complications. We report a case of a 47-year-old female who presented with exertional dyspnea, malaise, and weight loss. Physical examination was significant for jugular venous distension, basal crackles in lungs, 2+ pedal edema, and rumbling diastolic murmur at apex. CT of the chest revealed a hypodense filling defect in the left atrium. Transthoracic echocardiogram showed a 5.5 × 4.5 cm mobile density, likely myxoma, attached to the interatrial septum and prolapsing into the left ventricle during the diastolic phase, causing functional mitral stenosis. She underwent a resection of cardiac myxoma. The histopathology report confirmed the diagnosis of myxoma, and post-operative recovery was uneventful.

Introduction: COPD is an obstructive airway disease with significant systemic comorbidities that affect hospitalization and the overall severity of the disease. The aim of the study was to assess the prevalence of comorbidities and their effect on the hospitalization of COPD patients. Methods: The study was a cross-sectional study conducted in 2013 among patients of a tertiary care hospital. The sample size was 106. Inclusion criteria were diagnosed patients of COPD according to GOLD criteria. Patients were diagnosed with COPD based on GOLD criteria guidelines and evaluated for various comorbidities based on presenting complaints. Variables collected were the number and kind of diagnosed comorbidities, the average number of hospitalizations per year. The prevalence of each comorbidity was found out and the chi-square test (p

Article provides review of the available world literature on performing surgical correction of the atrioventricular septal defect (AVSD) in patients with Eisenmenger syndrome such as: basic pathophysiological principles, technique, indications, clinical and hemodynamic results. Currently, according to the literature, there is no clarity in the choice of a method for correcting severe congenital heart defects in combination with Eisenmenger syndrome (one - or two-step approach). The article presents the results of studies of both one-and two-stage approaches to correction of the atrioventricular septal defect (AVSD) in this category of patients with their advantages and disadvantages.

Idiopathic pulmonary fibrosis (IPF) is a progressive parenchymal disease. Pulmonary hypertension (PH) is a potentially lethal complication in the course of IPF. In almost all cases of IPF-PH there is gradual deterioration, but patients can also decline suddenly due to hypoxia. This case report describes the different echocardiographic changes observed in 2 episodes of hypoxic attack in a 73-year-old man. On admission, the tricuspid regurgitation peak gradient (TRPG) was 21 mmHg and the oxygen saturation rate was 94% (O2: 4 L/min). Five days after admission, the TRPG and oxygen saturation rate deteriorated [TRPG: 85 mmHg, oxygen saturation: 72% (O2; 4 L/min)]. He was diagnosed with IPF-PH due to hypoxic pulmonary vasoconstriction. Oxygen therapy and methylprednisolone pulse therapy (MPT) were administered. Five days after the MPT treatment, the hypoxia and PH improved [TRPG: 21 mmHg, oxygen saturation: 95% (O2: 4 L/min)]. Acute exacerbation of IPF (IPF-AE) occurred 20 days after the MPT, and a second dose of MPT was administered. The TRPG and oxygen saturation rate did not decline [TRPG: 27 mmHg, oxygen saturation: 94% (O2: 4 L/min)]. The patient died 10 days after the second dose of MPT. Divergent echocardiographic findings were observed during the deterioration of IPF-AE in the presence of IPF-PH.

Aneurysms are uncommon, but potentially life-threatening abnormalities of the pulmonary arteries. Aneurysm of the main pulmonary artery (MPA) defined as MPA diameter over 40 mm was reported in 1 : 14 000 autopsies. The most frequent location is the main pulmonary artery (89% of cases), whereas the maximum described diameter is 106–170 mm. Clinical manifestations are usually nonspecific or asymptomatic. Right heart failure symptoms, pulmonary regurgitation, trachea or bronchi compression or pulmonary emboli caused by enlarged MPA are the most commonly described clinical manifestations. Pulmonary artery aneurysm dissection is an uncommon complication but associated with a high mortality rate. Unfortunately, guidelines regulating the optimal time for the surgical intervention still have not been developed. We present the history of 76-year-old patient suffering from an aneurysm of the pulmonary artery (74 × 61 mm), as well as mitral and aortic valve disease, who was successfully operated on in our hospital.

Background: Common arterial trunk (CAT) is a rare congenital heart disease, and often leads to the early development of pulmonary hypertension and disability. Among the critical structural heart defects, the frequency of CAT is 3%, which reflects the severe hemodynamic disturbances. The natural course of the disease is characterized by a high mortality rate up to 88% during the first year of life. We introduce a patient with common arterial trunk disease. Case presentation: The article describes a case of a 9-year old boy with a diagnosis of type I common arterial trunk (CAT) that rejected recommendations of many physicians for many years. At 7 months, the baby was diagnosed as CHD and at 3 years, a cardiac catheterization was performed and the final diagnosis was common arterial trunk, type I with defect of interventricular septum and pulmonary hypertension. During, parents refused the operation. The health status of the last examination was bad due to high pulmonary hypertension and chronic arterial hypoxemia. Drug therapy continued with bosentan, sildenafil, captopril, kudesang, spironolactone and aspirin Conclusion: The late detection of children with CAT or late surgery leads to the rapid progression of pulmonary hypertension and significantly reduces the patientchr('39')s chances for performing surgical correction of the defect.

Saja Almaaitah,1 Kristin B Highland,2 Adriano R Tonelli2 1Medicine Institute, Cleveland Clinic, Cleveland, OH, USA; 2Department of Pulmonary and Critical Care Medicine, Cleveland Clinic, Cleveland, OH, USACorrespondence: Adriano R Tonelli Email tonella@ccf.orgAbstract: Systemic sclerosis (SSc) is a rare and complex immune-mediated connective tissue disease characterized by multi-organ fibrosis and dysfunction. Systemic sclerosis-associated pulmonary arterial hypertension (SSc-PAH) is a leading cause of death in this population. Pulmonary arterial hypertension (PAH) can coexist with other forms of pulmonary hypertension in SSc, including pulmonary hypertension related to left heart disease, interstitial lung disease, chronic thromboembolism and pulmonary venous occlusive disease, which further complicates diagnosis and management. Available pulmonary arterial hypertension therapies target the nitric oxide, endothelin and prostacyclin pathways. These therapies have been studied in SSc-PAH in addition to idiopathic PAH, often with different treatment responses. In this article, we discuss the management as well as the treatment options for patients with SSc-PAH.Keywords: systemic sclerosis, scleroderma, pulmonary arterial hypertension, pulmonary hypertension

Scimitar syndrome is a rare congenital heart defect characterized by the combination of vascular, bronchial, and parenchymal malformations. This syndrome includes anomalous right pulmonary venous drainage to the inferior caval vein, hypoplastic right pulmonary artery, right lung hypoplasia and the presence of aortopulmonary collaterals to the right lung. In this study, we evaluate the different surgical approaches of 3 cases with Scimitar syndrome who was corrected successfully.

Introduction: The American College of Emergency Physicians (ACEP) recommends that Emergency Medicine physicians with advanced training can evaluate right ventricular (RV) pressures via point-of-care ultrasound (POCUS) by measuring a tricuspid regurgitant jet (TRJ). We were unable to find a published curriculum to deliver education for this at any skill level. Therefore, we developed, delivered, and evaluated a curriculum for the assessment of TRJ for novice physician sonographers. Methods: We designed an educational intervention for novice physician sonographers. The curriculum was created using a modified Delphi methodology. All novice sonographers participated in the educational intervention which consisted of a didactic lecture followed by hands-on-deliberate practice on healthy medical student volunteers with expert feedback in a simulated setting. Sonographer’s knowledge was assessed at 3 time points: pre-intervention, immediately post-intervention, and 3 months post-intervention (retention assessment) by multiple choice exam. Results: Nine novice physician sonographers participated in the intervention. Mean exam performance increased from 55.6% [standard deviation (SD) 11.3%] on the pre-intervention exam to 94.4% (SD 7.3%) on the post-intervention exam and 92.9% (SD 12.5%) on the retention exam. The mean improvement between the pre- and post- exam was +38.9% (95% CI 31.8 - 46.0), and between the pre-exam and retention exam +37.1% (95% CI 22.3 - 52.0). Conclusion: Sonographer knowledge of TRJ assessment improved following a brief educational intervention as measured by exam performance. Given the expanding role of POCUS it is increasingly important to provide effective resources for teaching these skills. This work establishes the basis for further study and implementation of our TRJ curriculum.

Abstract Background Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary hypertension characterized by remodelling of the pulmonary venules. PVOD and pulmonary arterial hypertension share similar clinical presentation. It is important to differentiate between these two conditions as PVOD carries a worse prognosis and life-threatening pulmonary oedema may occur following the initiation of conventional therapy. Case presentation We are reporting a case of pulmonary hypertension in a middle-aged lady who presented with hemoptysis and features of right heart failure. After extensive work up, no definite aetiology of pulmonary hypertension could be found out. Standard therapy did not cause any symptomatic improvement. After right heart catheterization, we got pre capillary pulmonary hypertension and along with typical findings in HRCT scan of thorax we established PVOD. We did not try lung biopsy as the procedure often lands up with complications. As we could not arrange for lung transplant we eventually lost the patient. Conclusions High suspicion and thorough systematic evaluation helped us to diagnose PVOD in this case. Thus, early diagnosis should be the primary aim in suspected cases of PVOD so that we can prepare for lung transplant at the earliest.

Pulmonary arteriovenous malformations (PAVMs) are rare pulmonary vascular anomalies and represent fistulous connection between arterial and venous branches without customary intervening capillary network that is vital for gas exchange. The incidence is 2–3/100,000. Typically, PAVMs are associated with a normal or low pulmonary vascular resistance as the direct arteriovenous communications are low-resistance circuits. However, pulmonary artery hypertension is uncommon in PAVMs. Treatment of choice for PAVM is embolization. However, it abolishes low-resistance pathways for pulmonary blood flow and therefore can elevate pulmonary artery pressure. For majority of patients with severe PAH, risks of PAVM embolization outweigh potential benefits.

Abstract Background Pulmonary hypertension (PH) remains one of the rarest and deadliest diseases. Pulmonary Capillary Hemangiomatosis (PCH) is one of the sub-classes of PH. It was identified using histological and molecular tools and is characterized by the proliferation of capillaries into the alveolar septae. Mutations in the gene encoding the eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) have recently been linked to this particular subgroup of PH. Methods In our effort to unveil the genetic basis of idiopathic and familial cases of PH in Lebanon, we have used whole exome sequencing to document known and/or novel mutations in genes that could explain the underlying phenotype. Results We showed bi-allelic mutations in EIF2AK4 in two non-consanguineous families: a novel non-sense mutation c.1672C > T (p.Q558*) and a previously documented deletion c.560_564drlAAGAA (p.K187Rfs9*). Our histological analysis coupled with the CT-scan results showed that the two patients with the p.Q558* mutation have PH. In contrast, only one of the individuals harboring the p.K187Rfs9* variant has a documented PCH while his older brother remains asymtomatic. Differential analysis of the variants in the genes of the neighboring network of EIF2AK4 between the two siblings identified a couple of interesting missense mutations that could account for this discrepancy. Conclusion These findings represent a novel documentation of the involvement of EIF2AK4 in the different aspects of pulmonary hypertension. The absence of a molecular mechanism that relates the abrogated function of the protein to the phenotype is still a major hurdle in our understanding of the disease.

Objective: The incidence of patent ductus arteriosus (PDA) is greater among patients living at high altitude. In this po-pulation, the ductal diameter is often larger and pulmonary hypertension is more frequent. The aim of this study was to evaluate the hemodynamic and morphological features of PDA and transcatheter closure procedures performed with various devices in a group of patients living at high altitude in Turkey. Methods: The data of 327 patients who lived at an altitude of at least 1600 m above sea level and who had undergone cardiac catheterization for isolated PDA between May 2010 and July 2018 were retrospectively analyzed. Results: The mean age was 7.33+-7.67 years, and 62.4% of the patients were female. The mean ductal diameter was 3.74+-2.14 mm. Pulmonary hypertension was present in 57.8%. Transcatheter closure was performed in 322 patients, with a 97.3% success rate. The Amplatzer duct occluder I (ADO I) was used most often, as well as off-label use of the Amplatzer vascular plug II (AVP) and the Amplatzer muscular ventricular septal defect occluder (AMVSDO). Pulmonary artery pressure decreased immediately in the vast majority after percutaneous closure. Transient left ventricular systolic dysfunction after ductal closure was seen only rarely. Follow-up was uneventful. Conclusion: Transcatheter PDA closure can be performed with high success rate in highlanders. Off-label devices may be required for these procedures. Pulmonary hypertension is frequent but regresses after ductal closure. Transient left ventricular dysfunction after transcatheter closure is rarely seen in these patients and resolves without any medication.

The Fallot’s tetrad is a common congenital heart disease that requires radical surgical correction. Without treatment, Fallot’s tetrad quickly leads to progressive right ventricular hypertrophy due to the increased resistance caused by a narrowing of the pulmonary trunk, which leads to heart failure and dilatation of the heart cavities. The Fallot’s tetrad mortality rate reaches 35% in the first year of life and 50% in the first three years of life. By the age of 40, only 5% of patients with Fallot’s tetrad survive. A unique feature of this clinical case is the natural life expectancy of a patient with congenital heart disease of Fallot’s tetrad: not operated, with a large defect in the perimembranous part of the interatrial septum, in the advanced stage of progressive chronic heart failure with the development of pulmonary hypertension, right dilatation and left heart atrial, tricuspids, insufficiency of the II degree, decrease in global systolic function of the left ventricle. The patient was offered surgical treatment, explained the postoperative risks, which were assessed as high. The patient refused surgery, after which it was recommended inpatient treatment aimed at correcting chronic heart failure at the place of residence.

Introduction: Today, in the developed world, virtually all deaths due to Bordetella pertussis illnesses occur in young infants. Areas Covered: Pertussis in young infants is characterized by an afebrile cough illness with coryza, apnea, seizures, cyanosis, and emesis. Severe illness is associated with high leukocyte and lymphocyte counts, rapid respiratory and cardiac rates and pneumonia. Many routine intensive care treatment procedures are detrimental: these include steroids and nitric oxide. Preventative measures include: quarantine, prophylactic antimicrobial agents and immunizations of the mother to be with Tdap between 27 and 36 weeks gestation. Expert Opinion: Infants deaths are due to the irreversible pulmonary hypertension which is caused by aggregates of leukocytes in the small vessels in the lung. The leukocytosis with lymphocytosis is due to pertussis toxin. It can be treated by exchange blood transfusions. However for this to be successful it needs to be started before shock or organ failure has occurred. To prevent pertussis in young infants, attention needs to be directed to the diagnosis and treatment of pertussis in adolescents and adults. Also important are antimicrobial prophylaxis in the infant and the immunization of mothers to be with Tdap vaccine during all pregnancies.

Introduction: High prevalence of pulmonary hypertension has been reported in patients with chronic renal failure, especially those undergoing hemodialysis. Objectives: Considering the high prevalence of pulmonary hypertension in hemodialysis patients and uncertainty about the causes, the present study planned to investigate the role of parathyroid hormone (PTH) and cardiac ejection fraction (EF %) in development of pulmonary hypertension. Patients and Methods: By simple census sampling, all patients on hemodialysis in the hemodialysis center of Birjand University of Medical Sciences were enrolled. After obtaining written consent, the EF% and systolic pulmonary artery pressure (sPAP) were determined using echocardiography (MEDISON V10 model, Korea). The cut-point of less than 35 mm Hg was considered for normal sPAP. The blood sample was prepared to assay PTH using COBAS411 and ROCH kit. Independent t test or Man-Whitney test were used to compare means. P value

Abstract Background Pulmonary arterial hypertension (PAH) is a rare disease with an incidence rate of 2–6 cases per million per year. Our knowledge of the disease in the Middle East and North Africa (MENA) region is limited by the small number of clinical studies and the complete absence of genetic studies. Methods Our aim was to shed light on the clinical and genetic characteristics of PAH in Lebanon and the region by using exome sequencing on PAH patients referred to the American University of Beirut Medical Center (AUBMC). Twenty-one idiopathic, hereditary and Congenital Heart Disease (CHD) PAH patients were prospectively recruited, their clinical data summarized, and sequencing performed. Results The mean age at diagnosis was 33 years with a female preponderance of 70%. The mean pulmonary artery pressure at the time of diagnosis was 55. Genetic testing showed that 5 out of 19 idiopathic and Congenital Heart Disease PAH patients had Bone Morphogenetic Protein Receptor 2 (BMPR2) mutations at 25% prevalence, with 2 of these patients exhibiting a novel mutation. It also showed the presence of 1 BMPR2 mutation with 100% penetrance in a heritable PAH family. In the remaining cases, the lack of a complete genotype/phenotype correlation entailed a multigenic inheritance; suspected interactions involved previously associated genes T-box transcription factor 4 (TBX4), Bone Morphogenic Protein 10 (BMP10) and Growth Differentiation Factor 2 (GDF2). Conclusions This is the first study that looks into the genetic causes of PAH, including known and new BMPR2 mutations, in the MENA region. It is also the first study to characterize the clinical features of the disease in Lebanon.

Incidence and prognostic relevance of supraventricular arrhythmias were evaluated in nine studies. These studies investigated patients with different forms of pulmonary hypertension. Supraventricular arrhythmias were more often found in patients with group two pulmonary hypertension. Common findings in these patients were elevated right atrial pressure and diameters and reduced tricuspid annular plane systolic excursion (TAPSE). Elevations in other parameters like systolic pulmonary arterial pressure, mean pulmonary arterial pressure, and pulmonary vascular resistance (PVR) were inconsistent. Most of the patients with arrhythmias suffered symptoms and improved after sinus rhythm (SR) was restored. The prognostic relevance of non-sustained ventricular tachycardia was evaluated in only one study. Non-sustained ventricular tachycardia does not seem to be prognostically relevant. Extending Holter electrocardiogram (ECG) monitoring over 24 hours up to 72 hours raises the detection rate of arrhythmias. Ablation of arrhythmias, especially atrial flutter and atrioventricular node reentry tachycardia, is feasible and safe in these patients.

The goal is to describe a clinical case of a patient with nonspecific aortoarteritis. A special feature of this case is the lesion of the left branch of the pulmonary artery, the progression of the disease with the development of pulmonary hypertension and dilatation of the right heart, combined defeat of the descending thoracic aorta and brachiocephalic arteries. The issues of long-term course of the disease and the difficulties of diagnosis are discussed, in order to help practitioners of different profiles to increase the detectability and early diagnosis of this disease.

Background: The diagnosis of sarcoidosis is not standardized but is based on three major criteria: a compatible clinical presentation, finding nonnecrotizing granulomatous inflammation in one or more tissue samples, and the exclusion of alternative causes of granulomatous disease. There are no universally accepted measures to determine if each diagnostic criterion has been satisfied; therefore, the diagnosis of sarcoidosis is never fully secure.Methods: Systematic reviews and, when appropriate, meta-analyses were performed to summarize the best available evidence. The evidence was appraised using the Grading of Recommendations, Assessment, Development, and Evaluation approach and then discussed by a multidisciplinary panel. Recommendations for or against various diagnostic tests were formulated and graded after the expert panel weighed desirable and undesirable consequences, certainty of estimates, feasibility, and acceptability.Results: The clinical presentation, histopathology, and exclusion of alternative diagnoses were summarized. On the basis of the available evidence, the expert committee made 1 strong recommendation for baseline serum calcium testing, 13 conditional recommendations, and 1 best practice statement. All evidence was very low quality.Conclusions: The panel used systematic reviews of the evidence to inform clinical recommendations in favor of or against various diagnostic tests in patients with suspected or known sarcoidosis. The evidence and recommendations should be revisited as new evidence becomes available. [ABSTRACT FROM AUTHOR]

Patients with wide patent ductus arteriosus and significant pulmonary hypertension not treated in time constitute a significant problem for cardiologists. For these patients, tests that could aid in decision-making for further planning include reversibility and balloon occlusion tests performed in the catheterization laboratory. Devices developed for the closure of ductus as well as different devices with off-label use may be employed in patients scheduled for transcatheter occlusion. When result of reversibility test is borderline positive, the use of fenestrated device may be applicable for selected patients. Presently described is case of a 10-year-old patient with Down syndrome who had a wide ductus and systemic pulmonary hypertension. Transcatheter closure procedure was performed with off-label use of a fenestrated muscular ventricular septal defect occluder device.

Pulmonary capillary hemangiomatosis (PCH) is a rare and controversial entity that is known to be a cause of pulmonary hypertension and is microscopically characterized by proliferation of dilated capillary-sized channels along and in the alveolar walls. Clinically, it is mostly seen in adults. Clinical features are characterized by nonspecific findings such as shortness of breath, cough, chest pain, and fatigue. It can be clinically indistinguishable from pre-capillary pulmonary arterial hypertension disorders such as primary pulmonary arterial hypertension (PAH) or chronic thromboembolic pulmonary hypertension. However, the diagnostic distinction, which usually requires a multidisciplinary approach, is crucial in order to avoid inappropriate treatment with vasodilator medications usually used for PAH treatment. Prognosis of PCH remains poor with lung transplant being the only definitive treatment. We report an autopsy case of pulmonary capillary hemangiomatosis unmasked at autopsy that was treated with a prostacyclin analog, usually contraindicated in such patients. We emphasize that this entity should always be on the differential diagnosis in a patient with pulmonary hypertension and requires great vigilance on the part of the clinician, radiologist and pathologist to make the diagnosis and guide appropriate management.

Pulmonary hypertension is a patophysiologic state of pulmonary circulation that mean pulmonary arterial pressure is measured as equal to or greater than 25 mmHg at rest via right heart cateterization. Although this disease is very common in intensive care unit (ICU) patients and determines the clinical course, the diagnoses cannot be made or cannot be noticed typically. Pulmonary hypertension, due to being the cause of heart failure and progressive vascular remodelling in lung, leads to an increase in respiratory load. This result effects weaning process directly in these patients. Pulmonary hypertension which is not yet diagnosed should be considered in ICU who are in difficult or prolonged weaning group. For a successful in these patients, an optimal fluid management and avoiding factors trigerring increase in pulmonary vascular resistance (hypoxi, hypercarbia, high positive end-expiratory pressure, asidosis and hypothermia) are essential.

Background: Vitamin D (Vit D) is linked to various conditions including musculoskeletal, metabolic and cardiopulmonary diseases. However, it is not clear whether correction of vit D deficiency exerts any beneficial effect in patients with pulmonary hypertension. Methods: This study was a prospective uncontrolled longitudinal study. Patients with pulmonary hypertension and vit D deficiency were enrolled into this study. All patients in addition to standard treatment for pulmonary hypertension received cholecalciferol at a dose of 50,000 IU weekly plus calcicare (at a dose of 200 mg magnesium + 8 mg zinc + 400 IU vit D) daily for 3 months. Serum level of 25-hydroxy vit D, serum level of pro-brain natriuretic peptide, six minute walk test (6MWT), peak and mean pulmonary artery pressure, right ventricular size and function, ejection fraction (EF) and New York Heart Association (NYHA) functional class were measured at baseline and after 3 months of treatment. Results: Twenty-two patients with pulmonary hypertension and vit D deficiency were enrolled into the study. At endpoint, the serum vit D level increased significantly to 54.8 ng/ml, the mean of baseline distance of 6MWT increased significantly to 81.6 m and the RV size significantly improved. The mean pulmonary artery pressure also improved after the intervention, but their changes did not reach to statistically significant levels. Conclusion: Vit D replacement therapy in patients with pulmonary arterial hypertension and vit D deficiency results in significant improvement of right ventricular size and 6 MWT. Moreover, mean pulmonary artery pressure improves nonsignificantly. This issue requires further studies with long-term follow-up period.