Carvajal syndrome

Carvajal syndrome: Description, Causes and Risk Factors:Carvajal syndrome is one of the cardiocutaneous syndrome, rare familial disorders characterized by woolly hair, palmoplantar keratodermas, and heart disease. Carvajal syndrome was first described by Dr. Luis Carvajal-Huerta, a dermatologist in Guayaquil, Ecuador, who analyzed three families with recessive inheritance of woolly hair, epidermolytic palmoplantar keratodermas, and cardiomyopathy. A mutation in gene encoding desmoplakin has been identified in affected family members. Like plakoglobin, desmoplakin in an intracellular protein that links desmosomal cadherins to the cytoskeleton. Clinical studies have revealed that the cardiac disease in Carvajal syndrome is generalized dilated cardiomyopathy rather than ARVC, but structural and molecular features of this heart disease have not been characterized.In Carvajal syndrome, two different mutations of the desmoplakin gene have been found as causative genes. These mutations in genes encoding desmosomal proteins cause defects in the linking sites of these proteins and consequently can interrupt the contiguous chain of cell adhesion, particularly under conditions of increased mechanical stress or stretch, leading to cell death, progressive loss of myocardium, and fibrofatty replacement.In Carvajal syndrome, on the other hand, heart disease becomes clinically apparent earlier during childhood as dilated cardiomyopathy. Fifty percent of affected patients develop heart failure, and most of them die during adolescence.The desmoplakin mutation in Carvajal syndrome produces a cardiomyopathy with unique pathologic features. Altered protein-protein interactions at intercalated disks likely cause both contractile and electrical dysfunction in Carvajal syndrome.Symptoms:This syndrome is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle. The woolly hair is present at birth and the palmoplantar keratoderma appears during the first year of life. The cardiac anomaly presents during childhood and is marked by dilation of the left ventricle accompanied by alterations in muscle contractility.carvajal syndromeDiagnosis:In order to make the diagnosis of Carvajal we need the following tests:Right ventricular angiography, which is considered to be the gold standard in the diagnosis of all ARVD.
  • Electrocardiogram (EKG or ECG), which has the ability to record the electrical activity of the heart overtime.
  • Echocardiography is also called as the ultrasound of the heart.
  • Cardiac MRI.
  • Holter monitor.
  • Genetic testing.
Treatment:The primary goal is the prevention of sudden cardiac death. Implantation of an automatic cardioverter defibrillator (ICD) is indicated in patients who develop symptoms and/or structural progression, particularly before the age of 35 years. Antiarrhythmic drugs are indicated for preventing recurrences of episodes of sustained ventricular tachycardia; sotalol and amiodarone, either alone or in combination with classical ?-blockers, seem to be the most effective. Patients with congestive heart failure are managed with diuretics and angiotensin-converting enzyme (ACE) inhibitors, while heart transplantation is considered at the end stages.In an attempt to control Carvajal disease, systematic genetic screening of the populations at risk has been initiated and is starting to identify the heterozygous carriers of the plakoglobin gene mutation.NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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