What Is Timothy Syndrome?

Timothy syndrome is a rare genetic disorder that is caused by improper calcium flow throughout the body. Cardiac problems such as heart defects or abnormal heart rhythms are the most dangerous side effects of this condition. Additional characteristics of Timothy syndrome may include webbed fingers or toes, developmental delays, or a weakened immune system. Treatment normally consists of the use of a class of prescription medications known as calcium-channel blockers. Any specific questions or concerns about an individual case of Timothy syndrome should be discussed with a doctor or other medical professional.

Calcium is a nutrient that is vital to the function of the circulatory system. When there is a problem with the proper flow of calcium throughout the body, as is the case among those with Timothy syndrome, the heart is not able to maintain a normal rhythm. Abnormal heart rhythms can lead to a variety of cardiac problems, including sudden death. Patients who are born with this syndrome often have some sort of heart deformity as well.

Webbed fingers or toes are standard symptoms of Timothy syndrome. Any baby who is born with this type of webbing will undergo additional tests to make sure the heart is functioning properly. When cardiac issues and webbing of the fingers and toes are present, Timothy syndrome is the suspected diagnosis. More invasive tests may be needed in order to determine the extent of the birth defects associated with this disorder.

Many babies who are diagnosed with Timothy syndrome do not survive past childhood owing to the severe complications caused by the illness. Those who survive infancy may have noticeable developmental or cognitive delays. Frequent infections may also be a problem due to immune system dysfunction. Patients with this condition often spend a significant portion of their lives in a hospital.

Treatment for Timothy syndrome depends on individual symptoms, although there are some standard medications that are typically used. Calcium-channel blockers may help to restore proper calcium flow throughout the body and reduce some of the symptoms associated with this condition. Surgical intervention may be used to repair birth defects involving the heart, although this approach is used as a last resort. The anesthesia that must be used during the surgical procedure can further disrupt the rhythm of the heart, increasing the risk of death during surgery. Members of the medical staff will work closely with the family to create the most appropriate treatment plan for the individual situation.