Introduction
Cardiofaciocutaneous syndrome is an infrequent condition with unknown incidence. It has been researched and estimated that only around 200 to 300 individuals worldwide are affected by this syndrome. This syndrome is inherited and is contemplated to have an autosomal dominant ambiance. The meaning of being autosomal dominant is that there is the presence of one copy of the malformed gene in each cell, and this suffices to produce a cardiofaciocutaneous syndrome.
The usual cause of this syndrome is a new gene mutation. It can also occur in individuals who have no family members with this syndrome. On the other hand, there have been reports of individuals acquiring this condition from their affected parents. There is a low chance for the affected sibling to develop this syndrome. There is a 50 % chance of this syndrome getting passed onto the child from a pregnant mother with cardiofaciocutaneous syndrome.
What Are the Causes of Cardiofaciocutaneous Syndrome?
Both males and females are equally affected by this syndrome. Mutations in one or more genes are one of the causes of cardiofaciocutaneous syndrome. The most common gene that gets mutated leading to this syndrome is the B-Raf proto-oncogene or BRAF gene. The function of this gene is to form a protein that transfers correct chemical signals from one cell to another. The included protein has a crucial role in sending signals within the body’s cells and tissues.
Some functions of this protein are cell growth, cell formation, cell movement, and cell destruction. A mutation in this gene will eventually lead to alterations in all aspects of the protein function, as mentioned above. Mutations in other genes can also result in the development of cardiofaciocutaneous syndrome. These genes include mitogen-activated protein kinase (MAP2K) and Ki-ras2 Kirsten rat sarcoma viral oncogene (KRAS).
What Are the Clinical Features of Cardiofaciocutaneous Syndrome?
Heart imperfection and deformity is one of the classical signs of this syndrome. The heart valves remain impaired, leading to abnormal blood flow to the lungs, reduced cardiac output, hollow passages between the four chambers of the heart, holes in the valves, weak and malformed heart are some of the cardiac manifestations of cardiofaciocutaneous syndrome.
There are also outstanding facial features of this syndrome such as:
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High forehead.
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Narrow temples.
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A short nose.
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Wide space between the eyes.
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Slanting eye corners facing down.
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Tiny chin.
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Droopy eyelids.
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Low-leveled ears.
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No eyelashes and eyebrows.
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Box-like face.
There are other characteristic lesions and malformations of the skin that include:
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Coarse textured skin.
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Dark-colored mole.
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Rough skin.
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Wrinkled palms and soles of the feet.
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Bumpy skin of the hands and legs.
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Thin, sparse, and curly hair.
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Flat nails.
Other clinical features of cardiofaciocutaneous syndrome include the following:
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Weak tone of the skeletal muscles.
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Difficulty in weight gain.
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Difficulty in normal vision.
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Episodes of seizures.
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Short growth and stature.
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Abnormal shape of the upper and lower body.
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Puberty hitting earlier than normal.
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Gastrointestinal issues due to wrong development of the intestines.
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Malnutrition and fatty liver.
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An intellectual disability that is moderate in nature.
How to Diagnose Cardiofaciocutaneous Syndrome?
In the majority of cases, cardiofaciocutaneous syndrome is diagnosed during infancy. This diagnosis is based on rigorous clinical examination, physical evaluation, and peculiar genetic testing. By studying the structure of the heart of the affected individual, cardiac severity can be determined. Abnormal heart sounds or heart murmurs can be distinguished using a simple stethoscope. Electrocardiography, cardiac catheterization, and X- rays can reveal abnormalities present in the heart’s structure. The motions and functions of the heart are studied for accurate diagnosis. MRI (Magnetic Resonance Imaging) of the brain can be done to detect any changes in the structure. Tests for every aspect of the body can be carried out. For instance, an endocrine evaluation is conducted for hormonal abnormalities, an ophthalmic checkup is done for visual impairment, an audiological examination is done for hearing loss, dermatological consultation, and nutrition abnormalities can also be checked. Overall, a comprehensive and complete physical inspection is done.
How to Treat Cardiofaciocutaneous Syndrome?
The standard treatment for cardiofaciocutaneous syndrome is directed to specific signs and symptoms that are visible clinically. Since multiple organs and aspects of the body get affected, a multidisciplinary approach is a prerequisite. Health care professionals such as dermatologists, endocrinologists, neurosurgeons, cardiologists, etc, may devise a complete and systematic line of treatment. Therapeutic management may also be
supportive for some symptoms. Making a decision for surgical intervention depends on many factors, such as the complications caused due to cardiofaciocutaneous syndrome, severity, location, and associated abnormalities of the body. Nevertheless, there are some clinical features that need to be addressed immediately. Breathing problems, abnormalities of the functioning of the heart, digestive concerns, severe endocrine malfunctioning are some of the aspects that need to be considered for urgent treatment because they have the potential to be fatal or at least damage some organs leading to a lifetime of regret. This will eventually reduce the quality of life.
Conclusion
Cardiofaciocutaneous syndrome is a congenital multiple organ condition that affects mainly the heart. It is a result of gene mutation. The gene that is mutated harms the protein, whose function is to signal the cells for various growth parameters. Cardiofaciocutaneous syndrome affects the heart, causing malfunctioning of the cardiovascular system. Alongside, it also alters the functioning of the endocrine system, connective tissue system, neurological system, and other systems. Heart defects can rarely be fatal but need to be addressed to avoid future complications. Surgical management is not the go-to method of management. Instead, symptomatic therapy is the ideal treatment plan carried out by a group of professionals from different specialties. There is also evidence that paternal age can have an effect to some extent on the genetic alteration of the child. There have been advances in recent years that diagnose and manage this cardiofaciocutaneous syndrome to great success.
