Management of an elderly patient with nonsyndromic -related aortopathy: A case report.

Key Clinical Message: Genetic variants associated with hereditary TAAD may contribute to nonsyndromic TAAD. We present the case of a 72-year-old man with nonsyndromic TAAD undergoing prophylactic surgery after a gene panel test revealed a pathogenic variant in , but the indication for genetic testing in such elderly-onset cases still warrants further discussion.

Abstract: Hereditary thoracic aortic aneurysm and dissection (TAAD) is a clinical condition resulting in a fatal outcome.

Differential effects of balloon pulmonary angioplasty on chronic thromboembolic pulmonary disease.

Background: Decreased diffusing capacity of the lungs for carbon monoxide (DLco) is associated with microvascular damage in chronic thromboembolic pulmonary hypertension (CTEPH). Balloon pulmonary angioplasty (BPA) is an effective treatment for CTEPH, but the efficacy of BPA in patients with CTEPH with low DLco remains unclear because BPA does not directly address microvascular damage. This study investigates the influence of microvasculopathy on BPA in CTEPH according to DLco.

Comprehensive Risk Assessment in Patients With Pulmonary Arterial Hypertension Referred for Lung Transplantation.

Background: Whether comprehensive risk assessment predicts post-referral outcome in patients with pulmonary arterial hypertension (PAH) referred for lung transplantation (LT) in Japan is unknown.

Methods And Results: We retrospectively analyzed 52 PAH patients referred for LT. Risk status at referral was assessed using 3- and 4-strata models from the 2022 European Society of Cardiology and European Respiratory Society guidelines.

The Arabidopsis katamari2 Mutant Exhibits a Hypersensitive Seedling Arrest Response at the Phase Transition from Heterotrophic to Autotrophic Growth.

Young seedlings use nutrients stored in the seeds to grow and acquire photosynthetic potential. This process, called seedling establishment, involves a developmental phase transition from heterotrophic to autotrophic growth. Some membrane-trafficking mutants of Arabidopsis (Arabidopsis thaliana), such as the katamari2 (kam2) mutant, exhibit growth arrest during seedling development, with a portion of individuals failing to develop true leaves on sucrose-free solid medium.

Impact of psychiatric disorders on the hemodynamic and quality of life outcome of balloon pulmonary angioplasty in patients with chronic thromboembolic pulmonary hypertension: a retrospective study.

Background: Balloon pulmonary angioplasty (BPA) has beneficial effects on pulmonary hemodynamics, exercise capacity, and quality of life (QOL) in patients with chronic thromboembolic pulmonary hypertension (CTEPH). Recently, emerging evidence suggests a relationship between CTEPH and psychiatric disorders (PD). However, data on the clinical efficacy of BPA in CTEPH patients with PD are lacking.

[A Case of Left Renal Cell Carcinoma with Renal Arteriovenous Fistula and Multiple Vascular Malformation Undergoing Nephrectomy].

A 69-year-old woman was referred to our hospital for the treatment of a left renal tumor found by computed tomography (CT) during examination for microscopic hematuria. Contrast-enhanced CT showed a 5 cm tumor in the inferior pole of the left kidney. Left renal cell carcinoma (RCC) (cT1bN0M0) was suspected.

A novel pathogenic variant located just upstream of the C-terminal Ser423-X-Ser425 phosphorylation motif in SMAD3 causing Loeys-Dietz syndrome.

Objective: Loeys-Dietz syndrome (LDS) is a heritable disorder of connective tissue closely related to Marfan syndrome (MFS). LDS is caused by loss-of-function variants of genes that encode components of transforming growth factor-β (TGF-β) signaling; nevertheless, LDS type 1/2 caused by TGFBR1/2 pathogenic variants is frequently found to have paradoxical increases in TGF-β signaling in the aneurysmal aortic wall. Here, we present a Japanese LDS family having a novel SMAD3 variant.

Reduced volume and altered composition of paraspinal muscles in Marfan syndrome: A retrospective cohort study.

Retrospective cohort study. Spinal deformities in patients with Marfan syndrome (MFS) are distinct from those in patients with idiopathic scoliosis (IS). It is more prone to progression and more likely to present with sagittal malalignment than IS.

Effect of renal function under left ventricular assist device support on the cardiac function and clinical events after heart transplantation.

Aim: We investigated the effects of pre-transplantation renal dysfunction under left ventricular assisted device (LVAD) support on post-transplantation cardiac function, and patient prognosis after heart transplantation (HTx).

Method: All patients who were bridged by LVAD and underwent HTx at our hospital between 2007 and 2022 were included in this study. Patients were classified into two groups based on estimated glomerular filtration rate (eGFR) before HTx: renal dysfunction (RD) group (eGFR < 60 mL/min/1.

Shoot gravitropism and organ straightening cooperate to arrive at a mechanically favorable shape in Arabidopsis.

Gravitropism is the plant organ bending in response to gravity, while a straightening mechanism prevents bending beyond the gravitropic set-point angle. The promotion and prevention of bending occur simultaneously around the inflorescence stem tip. How these two opposing forces work together and what part of the stem they affect are unknown.

Coronary Periarteritis and Pericardial Thickening Could Be Predictors for Coronary Artery Events Complicated by IgG4-Related Disease.

Background: IgG4-related disease (IgG4-RD) is a systemic disease characterized by serum IgG4 upregulation, massive infiltration of IgG4-positive plasma cells, and storiform fibrosis, which results in nodules or thickening of the involved organs. Cardiologists have recently recognized that IgG4-RD can be complicated by coronary artery events (CAEs); however, the mechanisms and clinical characteristics of this phenomenon are unknown. We evaluated the clinical signs of patients with coronary periarteritis (CP), aortic periarteritis (AP), and pericardial thickening, which are complications of IgG4-RD, to determine the contributing factors.

A new assessment method for right ventricular diastolic function using right heart catheterization by pressure-volume loop.

Diastolic stiffness coefficient (β) and end-diastolic elastance (Eed) are ventricular-specific diastolic parameters. However, the diastolic function of right ventricle had not been investigated sufficiently due to the lack of established evaluation method. We evaluated the validity of these parameters calculated using only data of right heart catheterization (RHC) and assessed it in patients with restrictive cardiomyopathy (RCM) and cardiac amyloidosis.

The ratio of TAPSE to PASP predicts prognosis in lung transplant candidates with pulmonary arterial hypertension.

Lung transplantation (LT) is the only option for patients with pulmonary arterial hypertension (PAH) refractory to maximal medical therapy. However, some patients referred for LT could survive without LT, and its determinants remain unclear. This study aimed to elucidate prognostic factors of severe PAH at the referral time.

Prognostic value of follow-up vasoreactivity test in pulmonary arterial hypertension.

Background: Acute vasoreactivity test with inhaled nitric oxide (NO) is performed during diagnostic right heart catheterization (RHC) to identify patients with pulmonary arterial hypertension (PAH) who respond to calcium channel blockers. Our purpose was to investigate the prognostic importance of follow-up vasoreactivity test after treatment.

Methods: We retrospectively analyzed 36 PAH patients (mean age, 47 years; 61 % treatment-naïve), who underwent diagnostic and follow-up RHC and vasoreactivity tests at our center.

Giant internal carotid artery aneurysms and porcelain aorta in an elderly patient with Marfan syndrome.

Marfan syndrome (MFS) an inherited disorder caused by gene variants, is well known to cause lethal aortic aneurysm and dissections at a relatively young age. Here, we report giant internal carotid artery aneurysms (ICAAs) and porcelain aorta in an elderly patient with MFS.

Residual Pulmonary Vascular Resistance Increase Under Left Ventricular Assist Device Support Predicts Long-Term Cardiac Function After Heart Transplantation.

Aims: We compared hemodynamics and clinical events after heart transplantation (HTx) in patients stratified by the severity of residual pulmonary vascular resistance (PVR) after left ventricular assist device (LVAD) implantation for bridge to transplantation.

Methods: We retrospectively analyzed patients who had undergone HTx at the University of Tokyo Hospital. We defined the high PVR group as patients with PVR of >3 Wood Units (WU) as measured by right heart catheterization performed 1 month after LVAD implantation.

Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants.

Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant genetic disorder characterized by soft connective tissue vulnerability due to dysfunction of Type III collagen and caused by the pathogenic variants in COL3A1 gene. In the era of next-generation sequencing, multiple genes including COL3A1 can be simultaneously analyzed, and among patients suffering from aortopathy even without any other clinical features suggestive of vEDS, pathogenic COL3A1 variants have been increasingly identified. Here, we briefly summarize the characteristics of 12 Japanese patients from 11 families with arteriopathy and pathogenic or likely pathogenic COL3A1 variants in our hospital.

Renal replacement therapy as a therapeutic option for right heart failure in severe pulmonary arterial hypertension.

Pulmonary arterial hypertension (PAH) is a progressively life-threatening disease that causes right heart failure (RHF). Renal dysfunction frequently complicates PAH with RHF and is associated with a worse prognosis. Renal replacement therapy (RRT) may be a therapeutic option, although its efficacy and safety are unclear.

Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the gene.

Congenital contractural arachnodactyly (CCA) is caused by pathogenic variants; however, the contributions of copy number variations (CNVs) to CCA are still unknown. Here, we report on a familial case of CCA, in which a novel multiexon deletion of exons 35-39 in was identified after simple CNV prediction.

A Novel Technique of Balloon Pulmonary Angioplasty for the Treatment of Total Occlusion Lesions.

Balloon pulmonary angioplasty (BPA) has been recognized as an alternative therapeutic approach for patients with inoperative chronic thromboembolic pulmonary hypertension and those with residual pulmonary hypertension after pulmonary endarterectomy. However, the safe and successful treatment rate for a total occlusion lesion (TOL) using BPA is low, mainly because vessels distal to the occlusion are invisible by angiogram. Here, we present the case of a 53-year-old woman with chronic thromboembolic pulmonary hypertension with successfully recanalization of a TOL by use of BPA with the aid of intracardiac echocardiography.

Impact of pathogenic variant types on the development of severe scoliosis in patients with Marfan syndrome.

Background: Among the several musculoskeletal manifestations in patients with Marfan syndrome, spinal deformity causes pain and respiratory impairment and is a great hindrance to patients' daily activities. The present study elucidates the genetic risk factors for the development of severe scoliosis in patients with Marfan syndrome.

Methods: We retrospectively evaluated 278 patients with pathogenic or likely pathogenic variants.

Long-Term renal function after implantation of continuous-flow left ventricular assist devices: A single center study.

Background: Implantable continuous-flow left ventricular assist device (LVAD) improve renal function in advanced heart failure. However, the long-term effects of LVAD on renal function have not been investigated thoroughly. We aimed to assess long-term renal function in patients with LVAD support and to identify predictors for late deterioration in renal function (LDRF).