Spider finger

Introduction Marfan syndrome, also known as spider finger (toe) syndrome, is a congenital hereditary connective tissue disease that is autosomal dominant and has a family history. A spider refers to a patient's slender fingers that can be discerned by the naked eye. The main hazard of Fan's syndrome is cardiovascular disease, especially combined aortic aneurysm, which should be detected early and treated early. According to the clinical manifestations of bone, eye, cardiovascular changes, the three main signs and family history can be diagnosed. Clinically, it is divided into two types: those with three main characteristics are called complete types; those with only two items are called incomplete types. The simplest means of diagnosing this disease is echocardiography, which can be performed by anyone with suspicion. Further diagnosis requires MRI (magnetic resonance imaging). For younger, taller pneumothorax patients, attention should be paid to physical examination and family history to exclude the possibility of Marfan syndrome. If the patient has a family history of genetic history and typical aortic root dilatation, aortic dissection aneurysm, mitral valve disease and lens prolapse, positive bone signs, Marfan syndrome can be diagnosed.

Cause

Marfan syndrome is a congenital hereditary connective tissue disease that is autosomal dominant and has a family history.

The name comes from the French pediatrician Antoine Marfan, who first discovered and described the symptoms of a 5-year-old girl in 1896. There is no gender bias in the incidence of Marfan syndrome, and the mutation rate is not geographically predisposed. It is estimated that there are approximately 60,000 (0.02% of the population) to 200,000 people in the United States. The disease-causing gene carrier has a half chance to pass it on to the next generation. Most patients with Marfan syndrome have a family history, but at the same time, 15 to 30% of patients are caused by self-mutation - this spontaneous mutation rate is about 20,000. Marfan syndrome is also an example of a dominant negative mutation and a single deficiency. Its incidence is related to variable performance, but the incomplete penetrance has not been formally determined.

an examination

Related inspection

Joint examination electrocardiogram

1. Skeletal Muscle System: There are mainly slender limbs, spider fingers (toes), arms extended beyond the length of the body, hands hanging down the knees, the lower body is longer than the upper body. Long head deformity, narrow face, high bow, large ears and low position. Less subcutaneous fat, muscles are underdeveloped, wrinkles on the chest, abdomen, and arms. Low muscle tone, showing a weak body. The ligaments, tendons, and joint capsules are elongated, relaxed, and the joints are overstretched. Sometimes see the funnel chest, chicken breast, kyphosis, scoliosis, spina bifida and so on.

2. Eyes: There are mainly discolored or subluxation, high myopia, cataract, retinal detachment, and iris tremor. More men than women.

3. Cardiovascular system: About 80% of patients have congenital cardiovascular malformations. Common aortic progressive expansion, aortic regurgitation, aortic sinus aneurysm, dissection aneurysm and rupture due to aortic cystic necrosis. Mitral valve prolapse and mitral regurgitation are also important intrinsic manifestations. Can be combined with congenital atrial septal defect, ventricular septal defect, tetralogy of Fallot, patent ductus arteriosus, aortic coarctation. Can also be combined with a variety of arrhythmias such as conduction block, pre-excitation syndrome, atrial fibrillation, atrial flutter and so on.

Differential diagnosis

The main hazard of Marfan syndrome is cardiovascular disease, especially combined aortic aneurysm, which should be detected early and treated early. According to the clinical manifestations of bone, eye, cardiovascular changes, the three main signs and family history can be diagnosed. Clinically, it is divided into two types: those with three main characteristics are called complete types; those with only two items are called incomplete types. The simplest means of diagnosing this disease is echocardiography, which can be performed by anyone with suspicion. Further diagnosis requires MRI (magnetic resonance imaging). For younger, taller pneumothorax patients, attention should be paid to physical examination and family history to exclude the possibility of Marfan syndrome. If the patient has a family history of genetic history and typical aortic root dilatation, aortic dissection aneurysm, mitral valve disease and lens prolapse, positive bone signs, Marfan syndrome can be diagnosed.

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