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European Heart Journal Jan 2016
2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric...
Topics: Adult; Algorithms; Antihypertensive Agents; Arrhythmias, Cardiac; Balloon Embolectomy; Biomarkers; Cardiac Catheterization; Child; Combined Modality Therapy; Connective Tissue Diseases; Cross Infection; Drug Interactions; Echocardiography; Elective Surgical Procedures; Electrocardiography; Exercise Test; Exercise Therapy; Female; Genetic Counseling; Genetic Testing; HIV Infections; Health Status; Heart Defects, Congenital; Hemangioma; Hemoptysis; Humans; Hypertension, Portal; Hypertension, Pulmonary; Lung Transplantation; Magnetic Resonance Angiography; Multimodal Imaging; Patient Compliance; Pregnancy; Pregnancy Complications, Cardiovascular; Referral and Consultation; Respiratory Function Tests; Risk Assessment; Risk Factors; Social Support; Terminal Care; Therapies, Investigational; Thromboembolism; Tomography, X-Ray Computed; Travel Medicine; Treatment Outcome; Ventricular Dysfunction, Right
PubMed: 26320113
DOI: 10.1093/eurheartj/ehv317 -
Neurosurgery May 2017Despite many publications about cerebral cavernous malformations (CCMs), controversy remains regarding diagnostic and management strategies. (Review)
Review
Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel.
BACKGROUND
Despite many publications about cerebral cavernous malformations (CCMs), controversy remains regarding diagnostic and management strategies.
OBJECTIVE
To develop guidelines for CCM management.
METHODS
The Angioma Alliance ( www.angioma.org ), the patient support group in the United States advocating on behalf of patients and research in CCM, convened a multidisciplinary writing group comprising expert CCM clinicians to help summarize the existing literature related to the clinical care of CCM, focusing on 5 topics: (1) epidemiology and natural history, (2) genetic testing and counseling, (3) diagnostic criteria and radiology standards, (4) neurosurgical considerations, and (5) neurological considerations. The group reviewed literature, rated evidence, developed recommendations, and established consensus, controversies, and knowledge gaps according to a prespecified protocol.
RESULTS
Of 1270 publications published between January 1, 1983 and September 31, 2014, we selected 98 based on methodological criteria, and identified 38 additional recent or relevant publications. Topic authors used these publications to summarize current knowledge and arrive at 23 consensus management recommendations, which we rated by class (size of effect) and level (estimate of certainty) according to the American Heart Association/American Stroke Association criteria. No recommendation was level A (because of the absence of randomized controlled trials), 11 (48%) were level B, and 12 (52%) were level C. Recommendations were class I in 8 (35%), class II in 10 (43%), and class III in 5 (22%).
CONCLUSION
Current evidence supports recommendations for the management of CCM, but their generally low levels and classes mandate further research to better inform clinical practice and update these recommendations. The complete recommendations document, including the criteria for selecting reference citations, a more detailed justification of the respective recommendations, and a summary of controversies and knowledge gaps, was similarly peer reviewed and is available on line www.angioma.org/CCMGuidelines .
Topics: Advisory Committees; Central Nervous System Neoplasms; Consensus; Disease Management; Expert Testimony; Hemangioma, Cavernous; Hemangioma, Cavernous, Central Nervous System; Humans; Physical Therapy Modalities; Practice Guidelines as Topic; Stroke; United States
PubMed: 28387823
DOI: 10.1093/neuros/nyx091 -
Nature Jun 2021Vascular malformations are thought to be monogenic disorders that result in dysregulated growth of blood vessels. In the brain, cerebral cavernous malformations (CCMs)...
Vascular malformations are thought to be monogenic disorders that result in dysregulated growth of blood vessels. In the brain, cerebral cavernous malformations (CCMs) arise owing to inactivation of the endothelial CCM protein complex, which is required to dampen the activity of the kinase MEKK3. Environmental factors can explain differences in the natural history of CCMs between individuals, but why single CCMs often exhibit sudden, rapid growth, culminating in strokes or seizures, is unknown. Here we show that growth of CCMs requires increased signalling through the phosphatidylinositol-3-kinase (PI3K)-mTOR pathway as well as loss of function of the CCM complex. We identify somatic gain-of-function mutations in PIK3CA and loss-of-function mutations in the CCM complex in the same cells in a majority of human CCMs. Using mouse models, we show that growth of CCMs requires both PI3K gain of function and CCM loss of function in endothelial cells, and that both CCM loss of function and increased expression of the transcription factor KLF4 (a downstream effector of MEKK3) augment mTOR signalling in endothelial cells. Consistent with these findings, the mTORC1 inhibitor rapamycin effectively blocks the formation of CCMs in mouse models. We establish a three-hit mechanism analogous to cancer, in which aggressive vascular malformations arise through the loss of vascular 'suppressor genes' that constrain vessel growth and gain of a vascular 'oncogene' that stimulates excess vessel growth. These findings suggest that aggressive CCMs could be treated using clinically approved mTORC1 inhibitors.
Topics: Animals; Animals, Newborn; Class I Phosphatidylinositol 3-Kinases; Disease Models, Animal; Endothelial Cells; Gain of Function Mutation; Hemangioma, Cavernous, Central Nervous System; Humans; Kruppel-Like Factor 4; Kruppel-Like Transcription Factors; Loss of Function Mutation; MAP Kinase Kinase Kinase 3; Male; Mechanistic Target of Rapamycin Complex 1; Mice; Mutation; Neoplasms; Sirolimus; TOR Serine-Threonine Kinases
PubMed: 33910229
DOI: 10.1038/s41586-021-03562-8 -
Cardio-oncology (London, England) Jan 2023Cardiac hemangiomas are very rare benign cardiac tumors. They can present at any age and clinical presentation varies according to location and size. We encountered an...
Cardiac hemangiomas are very rare benign cardiac tumors. They can present at any age and clinical presentation varies according to location and size. We encountered an 87-year-old woman with a left atrial hemangioma clinically diagnosed as cardiac myxoma. Histopathological examination revealed that it was a cavernous-type hemangioma Left atrial hemangiomas, especially those attached to the left atrium wall, may be mistakenly diagnosed as myxomas. Furthermore, a comprehensive review of atrial hemangioma was conducted for the diagnosis and treatment of this uncommon entity.
PubMed: 36647178
DOI: 10.1186/s40959-023-00154-5 -
Circulation Journal : Official Journal... Feb 2021
Topics: Heart Neoplasms; Hemangioma; Hemangiosarcoma; Humans; Liver Neoplasms; Male; Middle Aged
PubMed: 33536403
DOI: 10.1253/circj.CJ-20-1235 -
Clinical Cardiology Jan 2000
Topics: Adult; Cardiac Surgical Procedures; Cardiomegaly; Echocardiography; Heart Neoplasms; Hemangioma; Humans; Male; Pericardial Effusion; Radiography; Treatment Outcome
PubMed: 10680031
DOI: 10.1002/clc.4960230111 -
Pediatrics and Neonatology Jun 2017Fetal primary cardiac tumors are rare, but they may cause complications, which are sometimes life threatening, including arrhythmias, hydrops fetalis, ventricular... (Review)
Review
Fetal primary cardiac tumors are rare, but they may cause complications, which are sometimes life threatening, including arrhythmias, hydrops fetalis, ventricular outflow/inflow obstruction, cardiac failure, and even sudden death. Among fetal primary cardiac tumors, rhabdomyomas are most common, followed by teratomas, fibromas, hemangiomas, and myxomas. Everolimus, a mammalian target of rapamycin inhibitor, has been reported to be an effective drug to cause tumor remission in three neonates with multiple cardiac rhabdomyomas. Neonatal cardiac surgery for the resection of primary cardiac tumors found by fetal echocardiography has been reported sporadically. However, open fetal surgery for pericardial teratoma resection, which was performed successfully via a fetal median sternotomy in one case report, could be a promising intervention to rescue these patients with large pericardial effusions. These recent achievements undoubtedly encourage further development in early management of fetal cardiac tumors. Owing to the rarity of fetal primary cardiac tumors, relevant information in terms of prenatal diagnosis, treatment, and prognosis remains to be clarified.
Topics: Antineoplastic Agents; Cardiac Surgical Procedures; Diagnosis, Differential; Everolimus; Female; Heart Neoplasms; Humans; Infant, Newborn; Pregnancy; Prenatal Diagnosis; Prognosis
PubMed: 28043830
DOI: 10.1016/j.pedneo.2016.07.004