We report the case of a 54-year-old patient with a splenic infarction of unknown origin, recurrent transient focal neurological episodes and multiple subacute cerebral ischaemic lesions on magnetic resonance imaging. During stroke work-up we performe...
Pulmonary arteriovenous malformations (PAVMs) are abnormal direct vascular communications between pulmonary arteries and veins which create high-flow right-to-left shunts. They are most frequently congenital, usually in the setting of hereditary hemo...
Pulmonary arteriovenous malformations (PAVMs) are uncommon, predominantly congenital direct fistulous connections between the pulmonary arteries and pulmonary veins, resulting in a right to left shunt. Patients with PAVMs are usually asymptomatic wit...
Pulmonary arteriovenous malformations (PAVMs) are abnormal communications between a pulmonary artery and pulmonary vein that bypass the capillary bed, resulting in right-to-left shunting. The majority of PAVMs are associated with hereditary hemorrhag...
Children and adults with single ventricle congenital heart disease (CHD) develop many sequelae during staged surgical palliation. Universal pulmonary vascular sequelae in this patient population include two inter-related but distinct complications: p...
Background: Pulmonary arteriovenous malformations (PAVMs) are abnormal vascular connections between the pulmonary arteries and veins, often leading to significant clinical complications. Embolisation has become the primary therapeutic modality for ma...
Pulmonary arteriovenous malformations (PAVMs) are vascular anomalies resulting in abnormal connections between pulmonary arteries and veins. In 80% of cases, PAVMs are present from birth, but clinical manifestations are rarely seen in childhood. Thes...
Background. This paper aimed to prospectively evaluate the safety of embolization therapy of pulmonary arteriovenous malformations (PAVMs) for the detection of cerebral infarctions by pre- and post-interventional MRI. Method One hundred and five pati...
Background: Computed tomography (CT) is considered the imaging modality of choice to diagnose pulmonary arteriovenous malformations PAVMs. The drawback of this technique is that it requires ionizing radiation. Magnetic resonance (MR) imaging does not...
Embolization of de novo pulmonary arteriovenous malformations (PAVMs) using high-volume detachable non-fibered (HVDNF) coils was compared to traditional non-HVDNF coils. Persistent-occlusion rates were evaluated. A total of 272 de novo (previously un...
Background/Objectives: Microvascular plug embolization in the distal feeding artery (FA-MVP) and coil embolization targeting the nidus and feeding artery (NiFA-coil) are effective treatments for pulmonary arteriovenous malformations (PAVMs). This stu...
Objective: The aim of this study was to evaluate patients with hereditary hemorrhagic telangiectasia (HHT) for the potential reperfusion of pulmonary arteriovenous malformations (PAVM) treated by catheter embolization using coils or embolization plug...
Hereditary hemorrhagic telangiectasia is a rare autosomal dominant vascular disease defined by the presence of mucosal and cutaneous telangiectasia and visceral arterio-venous malformations. The latter are abnormal capillary-free direct communication...
Objectives: To evaluate short- and long-term safety and efficacy of embolization with Onyx® for recurrent pulmonary arteriovenous malformations (PAVMs) in hereditary hemorrhagic telangiectasia (HHT). Methods: In total, 45 consecutive patients (51...
Bubble contrast echocardiography is commonly used to diagnose pulmonary arteriovenous malformations (PAVMs) in single ventricle congenital heart disease (CHD), yet previous studies inconsistently report a correlation between bubble echoes and oxygena...
Background/Objectives: Hereditary hemorrhagic telangiectasia (HHT) is a rare disorder characterized by dilated blood vessels. Different immunological changes have been described in these patients. In this study, the predisposition of patients with HH...
Background/Objectives: Pathogenic variants in the growth differentiation factor 2 (GDF2) gene have been linked to a hereditary hemorrhagic telangiectasia (HHT)-like syndrome, yet their clinical significance remains under investigation. This study rep...
Hereditary hemorrhagic telangiectasia (HHT) is a hereditary disease characterized by recurrent epistaxis, mucocutaneous telangiectasias, and visceral arteriovenous malformations. Multiple genetic mutations have been linked to this rare disease, inclu...
The vein of Galen malformations (VoGMs) is mainly correlated with the retention of an embryonic pattern of vascularity, inducer of vein of Galen dilation, and formation of arteriovenous communications that give rise to the risk of systemic shunting,...
In our case, the malformation was diagnosed prenatally at 40 weeks of gestation, and at the age of 14 days, the malformation was removed combined with a segmentectomy of the sixth segment of the left lung. Preoperative diagnostics focus on 3D-CT reco...
Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease mostly caused by mutations in three known genes (ENG, ACVRL1, and SMAD4), is characterized by the development of vascular malformations (VMs). Patients with HHT may presen...
A 35-year-old female presented to our emergency department with clinical signs of acute heart failure. Clinical workup identified severe right heart (RH) dilation and dysfunction with a crossing membrane structure in the right atrium. Right heart cat...
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterised by multisystemic vascular dysplasia. Heritable pulmonary arterial hypertension (HPAH) is a rare but severe complication of HHT. Both diseases can be...
The term congenital lung malformation (CLM) is used to describe a wide range of pathological conditions with different imaging and clinical manifestations. These anomalies stem from abnormal embryological lung development, potentially occurring acros...
Osler-Weber-Rendu disease, also known as hereditary hemorrhagic telangiectasia (HHT), is a rare, autosomal dominant condition that affects approximately 1 in 5000 patients causing abnormal blood vessel formation. HHT patients have mucocutaneous telan...
In this review, we discuss the role of transforming growth factor-beta (TGF-β) in the development of pulmonary vascular disease (PVD), both pulmonary arteriovenous malformations (AVM) and pulmonary hypertension (PH), in hereditary hemorrhagic telangi...
Hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant disease, is characterized by telangiectases and arteriovenous malformations (AVMs). Untreated AVMs, especially in the lungs—pulmonary AVMs (PAVMs)—can result in morbidity...
Hemorrhagic telangiectasia (HHT) is a disease of initially mild course - manifesting with recurrent nosebleeds and increased fatigue. Nevertheless, its progression can deteriorate patient’s health. Solid organ transplantation becomes the only therape...
Background/Objectives: Rendu–Osler disease is a rare genetic disease, characterized by widespread telangiectasia that can involve the skin and mucous membranes. The diagnosis is based on spontaneous and recurrent epistaxis; various mucosal and...
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder caused by pathogenic variants in ENG (HHT1) and ACVRL1 (HHT2), with distinct phenotypic expressions. Background/Objectives: This study investigates the genotype&nd...
Fetal heart failure (FHF) is a condition of inability of the fetal heart to deliver adequate blood flow for tissue perfusion in various organs, especially the brain, heart, liver and kidneys. FHF is associated with inadequate cardiac output, which is...