Congenital malformations of the heart and upper extremities are brought on by the genetic disorder Holt-Auram syndrome. Continue reading the following article to know everything that interests you about Holt-Auram syndrome.
Holt-Oram syndrome is known as Heart-Hand syndrome, because it causes birth defects in these two organs in particular, so what is Holt-Oram syndrome? What qualities does it possess? Is it treatable?
Holt tumor syndrome
A gene responsible for the development of the heart and the bones of the upper extremities during embryonic stages has a mutation that results in Holt-Arom syndrome.
Due to a defect in the development of the upper limbs from the shoulder to the fingers and the chambers of the heart caused by this genetic mutation, the patient exhibits a wide range of symptoms.
Holt-Oram Syndrome is a rare genetic disorder that is passed down as a dominant trait. This means that only one copy of the gene must be present in order for a child to be born with the syndrome; however, it can happen at random and there need not be a medical history in the family.
Characteristics of Holt-Aurham Syndrome
The severity of Holt-Aram syndrome and its accompanying symptoms vary from patient to patient, with both genders having an equal chance of developing it.
The following are the Holt-Auram syndrome's most notable signs and symptoms:
- Congenital malformations of the upper extremities
The upper extremity bones grow abnormally in people with Holt-Aoma syndrome, resulting in the development of limbs that have the following features:
- A deformity in at least one of the wrist bones. This symptom is present in all people with Holt-Aoma syndrome, and it is often detected by x-ray imaging.
- An imbalance in the growth of the thumb so that it may grow as long as the fingers of the other hand or may not grow at all.
- The absence of growth of one or both forearm bones or their growth to an abnormally short length.
- Deformities in the shoulder bones, including the scapula or collarbone , which leads to difficulty in extending, moving and rotating the arm to its full extension.
It is important to note that the aforementioned traits may affect one side of the body or both, and if they affect only one side, they frequently affect the left side.
- Congenital heart defects
Holt tumour syndrome affects 75% of those who are affected, resulting in congenital heart defects and symptoms that may not be noticed until old age or may, depending on their severity, pose a serious threat to the affected person's life.
The following are the most common congenital heart defects and the symptoms they are associated with in people with Holt-Oram syndrome:
- A deformity in the growth of the septum that separates the chambers of the heart, which may cause an opening between the atria or an opening between the ventricles.
- The occurrence of congestive heart failure and associated symptoms, such as: rapid breathing with a whistling sound, rapid heart palpitations, failure to thrive, in addition to the possibility of pulmonary hypertension .
- The occurrence of problems in the electrical conduction system of the heart, which leads to the patient suffering from bradycardia, fibrillation or heart block, which causes a number of symptoms such as fainting, chest pain, difficulty breathing, and Convulsions and epileptic seizures in some cases.
- An increased chance of a patient getting a bacterial infection that causes endocarditis as a result of congenital anomalies.
How is Holt-Oram Syndrome Diagnosed?
In diagnosing the patient, the doctor relies on conducting a physical examination and observing congenital abnormalities in the formation of the bones of the upper extremities, especially those that are compatible with the characteristics of Holt-Uram syndrome. The doctor additionally conducts the following diagnostic exams:
- X-ray examination of the upper extremities.
- Knowing the patient's family's medical history, especially if it contains congenital deviations in the growth and development of the septum that divides the heart chambers.
- Performing an electrocardiogram and echocardiogram on the patient to look for any congenital heart defects.
If one of the parents has Holt tumour syndrome, the condition can be detected in the womb by looking at the echocardiogram. In some cases, the doctor may also conduct a genetic test to confirm the diagnosis of the syndrome.
Treatment of Holt tumor syndrome
The treatment of Holt tumor syndrome depends on correcting the congenital anomalies and controlling the associated symptoms as much as possible, with the aim of facilitating the daily life of the affected people. The following lists the key procedures that were used:
- performing surgeries to as much as possible correct or repair the deformity of the upper limbs in order to restore the hand's and fingers' functionality as well as the shoulder joint's range of motion.
- the use of prostheses and rehabilitation therapy to enhance motor skills and teach users how to use them, ensuring users can carry out daily activities.
- the use of a pacemaker when there is a serious electrical heart defect that has life-threatening side effects.
- Having heart surgeries to close the gaps in the septum separating the heart's chambers, and in some cases, the patient may also receive drug therapy.
- using antibiotics prescribed by the doctor to treat endocarditis cases, with the possibility of using them as a preventative measure when undergoing certain medical procedures
It is recommended that an individual with Holt-Auram syndrome who has congenital heart defects undergo an echocardiogram every five years and an annual ECG test.