Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome

Ventricular Extrasystoles with Syncopal Episodes-Perodactyly-Robin Sequence Syndrome

Ventricular Extrasystoles with Syncopal Episodes-Perodactyly-Robin Sequence Syndrome is a rare genetic disorder characterized by a combination of cardiac, skeletal, and craniofacial anomalies. This syndrome is inherited in an autosomal dominant pattern.

Autosomal dominant inheritance pattern

Clinical Features

The syndrome presents with a variety of clinical features that can be grouped into three main categories:

Cardiac Anomalies

Patients with this syndrome often experience ventricular extrasystoles, which are premature heartbeats originating from the ventricles. These can lead to syncopal episodes, where the patient experiences fainting or loss of consciousness due to a temporary reduction in blood flow to the brain. The cardiac manifestations are significant and require careful monitoring and management.

Skeletal Anomalies

The term "perodactyly" refers to the presence of limb malformations, particularly affecting the fingers and toes. These may include syndactyly (fusion of digits), brachydactyly (shortened digits), or other limb deformities. These skeletal anomalies can vary in severity and may impact the patient's ability to perform certain tasks.

Craniofacial Anomalies

The Robin sequence is a set of craniofacial abnormalities that include micrognathia (a small lower jaw), glossoptosis (downward displacement or retraction of the tongue), and cleft palate. These features can lead to difficulties with feeding, breathing, and speech, and often require surgical intervention.

Genetic Basis

This syndrome is inherited in an autosomal dominant manner, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. The specific genetic mutation responsible for this syndrome has not been fully elucidated, but it is believed to involve genes that play a role in cardiac and skeletal development.

Diagnosis

Diagnosis of this syndrome is primarily clinical, based on the presence of the characteristic features. Genetic testing may be used to confirm the diagnosis and to provide information for family planning. A multidisciplinary approach is often required to manage the various aspects of the syndrome, involving cardiologists, orthopedic surgeons, and craniofacial specialists.

Management

Management of the syndrome is symptomatic and supportive. Cardiac issues may require medications or interventions to manage arrhythmias and prevent syncopal episodes. Surgical correction may be necessary for limb and craniofacial anomalies to improve function and appearance. Early intervention and supportive therapies, such as speech and occupational therapy, can help improve quality of life.

Related Pages

• Ventricular extrasystole
• Syncopal episode
• Perodactyly
• Robin sequence
• Autosomal dominant