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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case is reported of an extrauterine pelvic arteriovenous malformation involving branches of the internal iliac arteries. Cardiomegaly and a rough cardiac murmur were the clinical presentations mimicking a structural heart disease. A continuous bruit could only be detected by the diaphragm of the stethoscope applied firmly to the left lower abdomen. Multiple blood samplings from inferior vena cava, and iliac and femoral veins for determination of oxygen saturation may be necessary for suspected cases. However, selective arteriography remains the best method for diagnosing the presence, extent, and multiplicity of the lesions before surgery or percutaneous arterial embolization.
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PMID:Extrauterine pelvic arteriovenous malformation mimicking the clinical presentation of structural heart disease. 1040 14

Nonimmune hydrops fetalis (NIHF) is used to describe fetuses and newborns with generalized edema and cavity effusions. It is helpful to alert physicians about the presence of anemia, heart failure, and/or hypoproteinemia, but this diagnosis is frequently overlooked. We reviewed the autopsy files from 1990 to 2000, selected all cases with NIHF including clinical information (with maternal laboratory tests and ultrasound), and classified patients by etiology. Among 840 stillborn autopsies during the 11-year period, we found 51 with NIHF (6.07%). The clinical summary had mentioned hydrops in 14 patients and the etiology in another 7 by fetal ultrasonography, but without addressing the possibility of hydrops. In the remaining 30 cases neither hydrops nor an etiology was mentioned. Other pertinent diagnoses were maternal diabetes mellitus (4), congenital heart disease (3), and cystic hygroma (2). The following diagnoses were made in one instance each: cardiac tumor, twin transfusion syndrome, congenital adenomatoid malformation, syphilis, Turner syndrome, and cerebral arteriovenous malformation. Postmortem and placental examination confirmed the following etiologies: congenital infections (17); placental pathology significant enough to explain NIHF (10); cardiovascular diseases (8) (further classified as congenital heart disease [3], rhabdomyoma [1], and vascular malformations [4]); chromosomal abnormalities (6); uncontrolled maternal diabetes (4); intrathoracic lesions (2); prune-belly syndrome (2); and idiopathic NIHF (2). Only 3.9% of the cases studied had no identifiable etiology. The cause of hydrops was confirmed by autopsy in 47 fetuses (92%), which further supports the importance of performing an autopsy. Thirty-two cases (62.74%) had placental abnormalities helpful to the etiology (parvovirus, syphilis, Turner's syndrome, etc.). In 20 instances, the clinical summary had no mention of either hydrops or any of the diseases leading to it. The autopsy in conjunction with placental examination and fetal ultrasound represent the best combination to determine the etiology of NIHF among stillborn fetuses.
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PMID:Value of autopsy in nonimmune hydrops fetalis: series of 51 stillborn fetuses. 1201 30

The pathogenetic mechanisms leading to the development of congenital heart disease and congenital intracranial arteriovenous malformation are still unclear. We report on a monochorionic twin pregnancy with twin-to-twin transfusion syndrome (TTTS), in which vein of Galen malformation (VGM) was diagnosed in the donor twin and transposition of the great arteries (TGA) in the recipient twin. The development of TTTS, VGM, and TGA in a single monochorionic pregnancy could be pure coincidence, but there might also be a causative link. We discuss the possible contribution of genetic factors, fetal flow fluctuations, vascular endothelial growth factors, and the process of twinning itself to the development of these congenital anomalies.
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PMID:Twin-to-twin transfusion syndrome, vein of galen malformation, and transposition of the great arteries in a pair of monochorionic twins: coincidence or related association? 1680 39

Uterine arteriovenous malformation (AVM) is a rare cause of vaginal bleeding and miscarriage. We report two cases of uterine AVMs in patients with a history of complex congenital heart disease, an association that has not been previously described. Both patients were treated by selective uterine artery embolization, a minimally invasive therapy that has revolutionized the management of uterine AVMs, thus offering an alternative to conventional hysterectomy.
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PMID:Embolization of uterine arteriovenous malformations associated with cyanotic congenital heart disease. 1973 Jul 67

Congestive heart failure in the newborn period is uncommon and is most commonly related to congenital structural heart disease. However, the differential diagnosis is broad and includes arrhythmias, congenital or acquired myopathies, sepsis, severe anemia, or other conditions leading to high-output cardiac failure. Here we report on a 4-day-old girl with high-output heart failure due to a congenital cerebral arteriovenous malformation.
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PMID:A neonate with high-outflow congestive heart failure and pulmonary hypertension due to an intracranial arteriovenous malformation. 2173 Aug 2

Pulmonary arteriovenous malformation is a rare anomaly that presents in several different ways. It can present as an isolated finding, or more often in the context of hereditary haemorrhagic telangiectasia. It can also complicate palliative surgery such as the Glenn operation for complex congenital heart disease with single ventricle physiology. Its management includes transcatheter embolization, which is the preferred mode of therapy, surgery (including resection of the affected lobe, segment, or the fistula itself), or rarely, medical therapy. Complications of the disease itself and of various modes of treatment are relatively common, and patients require close surveillance for possible recurrence, or development of new fistulas. In cases related to the Glenn operation, redirection of hepatic venous flow or heart transplantation may cure the problem.
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PMID:Diagnosis and management of pulmonary arteriovenous malformations. 2236 10

Uterine arteriovenous malformation (AVM) is rare but it can cause life-threatening genital bleeding. Conservative therapy with GnRHa can be a useful option for treating a uterine AVM presenting with a congenital heart disease shunt in hemodynamically stable patients.
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PMID:Conservative therapy with a gonadotropin-releasing hormone agonist for a uterine arteriovenous malformation in a patient with congenital heart disease. 2618 52

Background: Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant disorder characterized by CMs, often in association with fast-flow vascular malformations. Alagille syndrome is an autosomal dominant multisystem disorder, usually involving hepatic, cardiac, ophthalmic, skeletal, or renal dysplasia. The combination of CM-AVM and Alagille syndrome in a patient presenting serious vascular malformations in the liver and heart has never been reported. Here, we report the case of a 20-month-old infant presenting these two diseases. Case presentation: The patient manifested port-wine stains, congenital heart disease, cholestasis with abnormal morphology, and vascular anomalies. Color Doppler (B-mode) ultrasonography, and radiological imaging including computed tomography (CT) with enhanced three-dimensional (3D) reconstruction and angiography, revealed a type II Abernethy malformation in the hepatic portal vein. The left hepatic lobe was enlarged showing dilation of the portal vein and the left artery. Whole exome sequencing (WES) identified a paternally inherited RASA1 heterozygous pathogenic variant p.(Ser219Ter) causing CM-AVM and a de novo NOTCH2 heterozygous variant p.(Met2042Thr) associated with Alagille syndrome. Conclusion: This is the first case of combined CM-AVM and Alagille syndrome presenting serious liver and heart abnormalities diagnosed using imaging technology and WES. The patient harbored variants in two genes: RASA1 and NOTCH2, which rarely contribute to aberrant vascular development. This report highlights the value of accurately diagnosing similar diseases and guiding therapy using genetic testing combined with careful clinical examinations.
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PMID:Capillary Malformation-Arteriovenous Malformation Combined Alagille Syndrome in a Patient With Double Gene Variations of RASA1 and NOTCH2. 3174 41


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