A Light on the Holt-Orams Syndrome
The Holt-Orams syndrome is a very rare genetic disorder. Only one in one hundred thousand babies born acquire it, although it is not gender related. This disease causes abnormalities in the patient’s arms, hands, or the heart. And because of this, the Holt-Orams syndrome is further classified into two groups: the one affects the limbs and the one that affects the heart.
The hand and arm abnormalities associated with this disease are characterized by the observable defects in the bones of the affected limb. Sometimes it even affects both the hand and the arms. The observable defects will be those present in the carpal bones and on the ones located on the fingers. There are also instances wherein the thumb of the patient is either missing of is badly misshaped. Some patients are observed to have very short arms that it looks as if the hands are attached to the body. This condition is called phocomelia.
The Holt-Orams syndrome that affects the heart, on the other hand occurs in almost all individuals diagnosed with this disease. When compared with the instances of bone deformities, the heart condition caused by the Holt-Orams syndrome is observed to be higher. It is further noted that about 75% of the patients are suffering from heart conditions and only 25% have bone deformities. And more often than not, the heart defect present in the patient is either atrial septal defect or ventricular septal defect, coupled with abnormal heart rhythms.
The Holt-Orams syndrome is hereditary so that means it is acquired during birth. And this would also mean that the diagnosis for this disease has to be performed immediately, especially if one of the child’s parents is known to be a carrier of the disease. Mostly, a physical examination on the baby’s hands and arms are done first so as to check for possible bone abnormalities.
And when the hands and arms look normal, the diagnosis is taken to the heart. For cases like this, diagnosis may be done later in the patient’s life, usually when the symptoms of the disease affecting the heart become evident. The usual tests used to diagnose this disease are x-ray for bone abnormalities and echocardiogram and electrocardiogram for heart problems.
The treatment for this disease depends on the symptoms that are showing. For the patients with arm defects, orthopedic surgeons are consulted to help patients in improving the functions of their arms. For those suffering from heart problems, such as the enlargement of the heart leading to heart failure, a cardiologist has to be consulted so that the problem will be treated accordingly.
And because this case considered a genetic disease, all the family members of an individual positively diagnosed with the Holt-Orams Syndrome need to be screened for it. Studies had shown that children of the adults who had the disease have a 50% chance of developing it themselves.
If left untreated, the Holt-Orams Syndrome may cause complications on the body. One of them is congestive heart failure, which is a condition that makes it hard for the heart to pump blood to the rest of the body. The patient may also develop arrhythmias and heart blocks, which are equally critical conditions of the heart. And to top it all, people suffering from the Holt-Orams syndrome may succumb to sudden death. This is how dangerous ignoring this disease could result to.
But when treated, the prognosis for this disease is usually good. This means that the patients usually recover from the cardiac malformations brought about by the disease. Although the bone deformation may be harder or a little impossible to treat, it is really not as fatal as the complications it brings to the heart.
