Cerebral Cavernous Malformation Overview
Learn About Cerebral Cavernous Malformation
Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels are prone to leakage, which can cause the health problems related to this condition. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the brain and spinal cord (which are described as cerebral).
Mutations in at least three genes, KRIT1 (also known as CCM1), CCM2, and PDCD10 (also known as CCM3), cause familial cerebral cavernous malformations.
Cerebral cavernous malformations affect about 16 to 50 per 10,000 people worldwide.
This condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In the familial form, an affected person inherits the mutation from one affected parent.
Integrated Dermatology Of Vernon PLLC
Laurie Bain is a Dermatologist in Vernon, Connecticut. Dr. Bain and is rated as an Experienced provider by MediFind in the treatment of Cerebral Cavernous Malformation. Her top areas of expertise are Impetigo, Plaque Psoriasis, Actinic Keratosis, and Psoriasis.
Eastern Connecticut Pathology Consultants, PC
Christopher Wallace is a Dermatologist in Manchester, Connecticut. Dr. Wallace and is rated as an Experienced provider by MediFind in the treatment of Cerebral Cavernous Malformation. His top areas of expertise are Basal Cell Skin Cancer, Extramammary Paget Disease, Bowen's Disease, and Squamous Cell Skin Carcinoma. Dr. Wallace is currently accepting new patients.
Dermatology Associates Of Glastonbury LLC
Janelle Manton is a Dermatologist in Glastonbury, Connecticut. Dr. Manton and is rated as an Experienced provider by MediFind in the treatment of Cerebral Cavernous Malformation. Her top areas of expertise are Seborrheic Keratosis, Warts, Actinic Keratosis, and Pityriasis Lichenoides Chronica.
Summary: The project aims to develop prognostic and diagnostic blood tests for symptomatic brain hemorrhage in patients diagnosed with cavernous angiomas, a critical clinical challenge in a disease affecting more than a million Americans. We further examine whether blood biomarkers can replace or enhance the accuracy of advanced imaging in association with lesional bleeding. The project tests a novel integ...
Summary: The goal is to characterize vascular reactivity and cardiac pulsatility of normal appearing white matter in patients with CCM during hypercarbia/hypocarbia using quantitative real-time high-speed multi-echo fMRI to develop prognostic biomarkers for CCM formation
Published Date: April 01, 2020
Published By: National Institutes of Health