Brugada syndrome is a cardiac arrhythmia characterized by right bundle branch block and ST elevation in the right precordial leads of the electrocardiogram ECG in the absence of structural heart disease. It can be diagnosed from a few days after birth until adulthood and the mean age of sudden death is around 40 years. The prevalence is around 5 cases per 10 inhabitants, although the ECG may appear normal in many individuals with the syndrome, making the true frequency difficult to determine. Many patients have a family history of the disease, which follows an autosomal dominant pattern of inheritance. The aim of this study was to characterize the array of SCN5A mutations in a group of Spanish patients and define the phenotype associated with the mutations identified. The study included 25 patients diagnosed by specialists from the Department of Cardiology at Hospital Universitario Central de Asturias.
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Only comments written in English can be processed. A genetic cardiac rhythm disease that may progress to complete atrioventricular AV block.
The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death. To date more than 50 Familial progressive cardiac conduction defect PCCD cases have been described in the literature.
The age of disease onset is variable. Familial PCCD is either asymptomatic or manifests as dyspnea, dizziness, syncopal episodes, abdominal pain, heart failure or sudden death when complete heart block develops. Syncope during exertion has been reported and the disease can progress from a normal electrocardiography ECG to right or left bundle branch block and from the latter to complete heart block. Isolated PCCD has also been described in families with carriers of a mutation in one of these genes.
In most cases, normal cardiac structure and contractile function are observed, but in some, complete AV block can lead to dilation of the left ventricle and heart failure. Ventricular tachycardia and torsade de pointes may be recorded during the recovery phase of an exercise stress test or during complete AV block. The differential diagnosis includes Brugada syndrome, idiopathic ventricular fibrillation, long QT syndrome, lupus neonatal, progressive familial heart block type II, and sudden infant death syndrome.
Transmission is autosomal dominant with incomplete penetrance and variable expressivity. Recessive or sporadic forms are rare. Treatment of PCCD includes the timely implantation of a permanent pacemaker. Follow-up at 6-month intervals is recommended in patients with any degree of heart block and at least a yearly examination is recommended in members of the affected families with a normal ECG.
Medications with conduction-slowing properties should be restricted, and fever, an aggravating trigger in individuals with SCN5A mutations, should be preemptively treated. When a clinical diagnosis of PCCD potentially from genetic origin is established in an index case i.
There is no genotype-based risk stratification for patients with PCCD. A high incidence of sudden death is observed in patients with either first-degree AV block in association with bifascicular block or in those with symptomatic advanced AV block. In patients who receive pacemaker implantation, the prognosis is excellent and is very close to that of the general population, except in those with LMNA mutations that can lead to ventricular tachycardia and sudden cardiac death.
In this population, ICD implantation is recommended in case of severe cardiac conduction defect. Other search option s Alphabetical list. Suggest an update.
Summary and related texts. Related genes. Clinical signs. Check this box if you wish to receive a copy of your message. Disease definition A genetic cardiac rhythm disease that may progress to complete atrioventricular AV block. Summary Epidemiology To date more than 50 Familial progressive cardiac conduction defect PCCD cases have been described in the literature. Clinical description The age of disease onset is variable. Differential diagnosis The differential diagnosis includes Brugada syndrome, idiopathic ventricular fibrillation, long QT syndrome, lupus neonatal, progressive familial heart block type II, and sudden infant death syndrome.
Genetic counseling Transmission is autosomal dominant with incomplete penetrance and variable expressivity. Management and treatment Treatment of PCCD includes the timely implantation of a permanent pacemaker. Detailed information Professionals Summary information Russian , pdf Clinical practice guidelines English Additional information Further information on this disease Classification s 2 Gene s 4 Disability Clinical signs and symptoms Other website s 3.
Health care resources for this disease Expert centres Diagnostic tests 51 Patient organisations 43 Orphan designation s and orphan drug s 0. Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Familial progressive cardiac conduction defect
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Making a diagnosis for a genetic or rare disease can often be challenging. The following resources provide information relating to diagnosis and testing for this condition.
Lev's disease is an acquired complete heart block due to idiopathic fibrosis and calcification of the electrical conduction system of the heart. Lev's disease is most commonly seen in the elderly, and is often described as senile degeneration of the conduction system. One form has been associated with SCN5A. Stokes-Adams attacks can be precipitated by this condition. These involve a temporary loss of consciousness resulting from marked slowing of the heart when the atrial impulse is no longer conducted to the ventricles. This should not be confused with the catastrophic loss of heartbeat seen with ventricular fibrillation or asystole. From Wikipedia, the free encyclopedia.