Marfan syndrome is a genetic condition with autosomal dominant inheritance Autosomal dominant inheritance Autosomal Recessive and Autosomal Dominant Inheritance. Marfan syndrome affects the elasticity Elasticity Resistance and recovery from distortion of shape. Skeletal Muscle Contraction of connective tissues throughout the body, most notably in the cardiovascular, ocular, and musculoskeletal systems. The skin Skin The skin, also referred to as the integumentary system, is the largest organ of the body. The skin is primarily composed of the epidermis (outer layer) and dermis (deep layer). The epidermis is primarily composed of keratinocytes that undergo rapid turnover, while the dermis contains dense layers of connective tissue. Skin: Structure and Functions, lungs Lungs Lungs are the main organs of the respiratory system. Lungs are paired viscera located in the thoracic cavity and are composed of spongy tissue. The primary function of the lungs is to oxygenate blood and eliminate CO2. Lungs: Anatomy, and central nervous system Nervous system The nervous system is a small and complex system that consists of an intricate network of neural cells (or neurons) and even more glial cells (for support and insulation). It is divided according to its anatomical components as well as its functional characteristics. The brain and spinal cord are referred to as the central nervous system, and the branches of nerves from these structures are referred to as the peripheral nervous system. Nervous System: Anatomy, Structure, and Classification are also affected. Patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship are usually tall with long limbs, fingers, and toes, and hypermobile joints. Associated conditions include aortic aneurysm Aneurysm An aneurysm is a bulging, weakened area of a blood vessel that causes an abnormal widening of its diameter > 1.5 times the size of the native vessel. Aneurysms occur more often in arteries than in veins and are at risk of dissection and rupture, which can be life-threatening. Thoracic Aortic Aneurysms or dissection, mitral valve prolapse Mitral valve prolapse Abnormal protrusion or billowing of one or both of the leaflets of mitral valve into the left atrium during systole. This allows the backflow of blood into left atrium leading to mitral valve insufficiency, systolic murmurs, or cardiac arrhythmia. Mitral Valve Prolapse, and lens Lens A transparent, biconvex structure of the eye, enclosed in a capsule and situated behind the iris and in front of the vitreous humor (vitreous body). It is slightly overlapped at its margin by the ciliary processes. Adaptation by the ciliary body is crucial for ocular accommodation. Eye: Anatomy dislocation. Diagnosis is made clinically with set criteria, and genetic testing Genetic Testing Detection of a mutation; genotype; karyotype; or specific alleles associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Myotonic Dystrophies is done only when it may affect Affect The feeling-tone accompaniment of an idea or mental representation. It is the most direct psychic derivative of instinct and the psychic representative of the various bodily changes by means of which instincts manifest themselves. Psychiatric Assessment the management. Medical or surgical management is based on clinical manifestations. Cardiovascular involvement is followed closely, as it is the main cause of mortality Mortality All deaths reported in a given population. Measures of Health Status.
Last updated: 8 Jan, 2021
|Wrist and thumb sign||
|Pectus carinatum Pectus carinatum A developmental anomaly characterized by abnormal anterior protrusion of the sternum and adjacent costal cartilage. Cardiovascular Examination deformity Deformity Examination of the Upper Limbs||2 points|
|Pectus excavatum Pectus Excavatum Cardiovascular Examination or chest asymmetry Asymmetry Examination of the Upper Limbs||1 point|
|Hindfoot deformity Deformity Examination of the Upper Limbs||2 points|
|Plain pes PES Removal of plasma and replacement with various fluids, e.g., fresh frozen plasma, plasma protein fractions (ppf), albumin preparations, dextran solutions, saline. Used in treatment of autoimmune diseases, immune complex diseases, diseases of excess plasma factors, and other conditions. Thrombotic Thrombocytopenic Purpura planus||1 point|
|Pneumothorax Pneumothorax A pneumothorax is a life-threatening condition in which air collects in the pleural space, causing partial or full collapse of the lung. A pneumothorax can be traumatic or spontaneous. Patients present with a sudden onset of sharp chest pain, dyspnea, and diminished breath sounds on exam. Pneumothorax||2 points|
|Dural ectasia||2 points|
|Protrusio acetabuli||2 points|
|↓ US/LS and ↑ arm Arm The arm, or “upper arm” in common usage, is the region of the upper limb that extends from the shoulder to the elbow joint and connects inferiorly to the forearm through the cubital fossa. It is divided into 2 fascial compartments (anterior and posterior). Arm: Anatomy span/height and no severe scoliosis Scoliosis Scoliosis is a structural alteration of the vertebral column characterized by a lateral spinal curvature of greater than 10 degrees in the coronal plane. Scoliosis can be classified as idiopathic (in most cases) or secondary to underlying conditions. Scoliosis||1 point|
|Scoliosis Scoliosis Scoliosis is a structural alteration of the vertebral column characterized by a lateral spinal curvature of greater than 10 degrees in the coronal plane. Scoliosis can be classified as idiopathic (in most cases) or secondary to underlying conditions. Scoliosis or kyphosis Kyphosis Deformities of the spine characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback. Osteoporosis||1 point|
|↓ elbow extension Extension Examination of the Upper Limbs||1 point|
|Facial features (at least 3 of 5)||1 point|
|Skin Skin The skin, also referred to as the integumentary system, is the largest organ of the body. The skin is primarily composed of the epidermis (outer layer) and dermis (deep layer). The epidermis is primarily composed of keratinocytes that undergo rapid turnover, while the dermis contains dense layers of connective tissue. Skin: Structure and Functions striae||1 point|
|Myopia Myopia Refractive Errors||1 point|
|Mitral valve prolapse Mitral valve prolapse Abnormal protrusion or billowing of one or both of the leaflets of mitral valve into the left atrium during systole. This allows the backflow of blood into left atrium leading to mitral valve insufficiency, systolic murmurs, or cardiac arrhythmia. Mitral Valve Prolapse||1 point|
The management of MFS is based on the clinical manifestations. A multidisciplinary team of cardiologists, ophthalmologists, orthopedists, and cardiovascular surgeons is needed.
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