Liz... Josiane, a 9 year old girl, was admitted with a 24 hours history of severe headache and vomiting. On admission she was conscious, irritable and complained of a severe headache. Clinical examination revealed a right hemiparesis with cyanosis of the lips and extremities and clubbing of the fingers, all consistent with chronic hypoxia. Cardiovascular examination was normal apart from a systolic murmur which could be heard posteriorly under the left scapula. There were no angiomatous or telangiectatic lesions of the skin. A blood examination revealed a raised ESR, a marked polycythaemia with a decreased arterial oxygen tension. Chest x-rays showed the presence of an irregular well delineated opacity in the posterior basal segment of the left lower lobe. This opacity was confluent with the ipsilateral hilum and was suggestive of a pulmonary arteriovenous fistula. An intracranial space occupying lesion in the left temporal region of the brain was revealed by electroencephalographic and CT scan investigations; this proved to be an abscess which was surgically removed with no subsequent complications. Further radiological investigations of the chest revealed the pulmonary lesion was an arteriovenous aneurysm occupying the whole left inferior lobe. This was removed at thoracotomy three months after the acute neurological event. The results of respiratory function and regional isotopic investigations before and after surgery will be discussed.
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J Cardiol Cases
October 2024
Pediatric Cardiology Unit, University of Campania "Luigi Vanvitelli", AORN "Ospedali dei Colli", Monaldi Hospital, Naples, Italy.
Unlabelled: Right-to-left shunt may be a cause of paradoxical embolization (and cryptogenic cerebral ischemic events). Patent foramen ovale and pulmonary arterio-venous malformations are the most common cause of paradoxical embolization; however, some rare cardiovascular lesions may cause a right-to-left shunt with consequent paradoxical embolization. We describe a case of a young child with superior sinus venosus atrial septal defect who underwent surgical closure and developed a cryptogenic cerebral ischemic attack due to a rare cause of paradoxical embolization, during a long-term follow-up.
View Article and Find Full Text PDFActa Neurol Belg
January 2025
Intensive Care Department, Cliniques Universitaire Saint-Luc (CUSL), Université Catholique de Louvain (UCL), Brussels, Belgium.
Osler-Weber-Rendu syndrome, or hereditary hemorrhagic telangiectasia (HHT), is a rare vascular disorder characterized by arteriovenous malformations (AVMs) in various organs, including the lungs. Pulmonary AVMs (PAVMs) are especially worrisome due to their potential to form right-to-left shunts, resulting in life-threatening complications such as paradoxical embolism and stroke . We present a case of fatal air embolism in a young patient with a known history of HHT and recurring hemoptysis.
View Article and Find Full Text PDFIndian J Thorac Cardiovasc Surg
February 2025
Sechenov First Moscow State Medical University, Moscow, Russia.
Pulmonary arteriovenous malformation (PAVM) is a congenital vascular pathology, which is caused by the presence of a direct connection between the branches of the artery and the veins of the lungs, and the discharge of unoxygenated blood into the arterial bed. Arteriovenous malformations are characterized by a wide variety of clinical manifestations and, in some cases, may be accompanied with severe circulatory disorders.
View Article and Find Full Text PDFPediatr Pulmonol
January 2025
Department of Pulmonology, St. Antonius Hospital, Nieuwegein, the Netherlands.
Introduction: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disease and screening to detect pulmonary arteriovenous malformations (PAVMs) is important to prevent complications. In adults, transthoracic contrast echocardiogram (TTCE) is used to screen PAVMs. In children, a conservative screening method seems to be sufficient to rule out major PAVMs and prevent them from PAVM-related complications.
View Article and Find Full Text PDFNat Rev Dis Primers
January 2025
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HHT Rare Disease Working Group, Paris, France.
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait and caused by loss-of-function pathogenic variants in genes encoding proteins of the BMP signalling pathway. Up to 90% of disease-causal variants are observed in ENG and ACVRL1, with SMAD4 and GDF2 less frequently responsible for HHT. In adults, the most frequent HHT manifestations relate to iron deficiency and anaemia owing to recurrent epistaxis (nosebleeds) or bleeding from gastrointestinal telangiectases.
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