This patient most likely has Ehlers-Danlos syndrome (EDS), a connective tissue disorder that is characterized by joint hypermobility

This patient most likely has Ehlers-Danlos syndrome (EDS), a connective tissue disorder that is characterized by joint hypermobility, recurrent joint dislocations, hyperextensible skin with easy bruisability, and delayed healing with atrophic scars. Patients may have associated skeletal abnormalities, including thoracolumbar scoliosis and pes planus. Other features include hernias, cervical insufficiency, and uterine prolapse. Mitral valve prolapse with myxomatous degeneration of the valvular apparatus is a complication of EDS and can lead to rupture of chordae tendineae and acute mitral regurgitation (MR).
(Choice A) This patient’s symptoms, clinical features, and electrocardiogram (ECG) findings do not support a diagnosis of coronary artery disease.
(Choice C) Mitral valve prolapse is frequently seen in patients with Marfan syndrome, and patients may have acute or worsening MR due to rupture of the chordae tendineae. However, the characteristics of Marfan syndrome, including overgrowth of long bones, arachnodactyly, pectus excavatum or carinatum, hindfoot valgus, and lens dislocation, are not present in this patient.
(Choice D) Acute rheumatic fever (RF) is an inflammatory condition most often seen following group A streptococcal infection. Major manifestations are migratory arthritis, carditis or valvulitis, central nervous system involvement with Sydenham chorea, erythema marginatum, and subcutaneous nodules. Minor manifestations include fever, arthralgia, elevated inflammatory markers, and prolonged PR interval. Acute RF may occasionally cause rupture or elongation of the mitral valve chordae tendineae, leading to flail leaflets and severe MR. It is most common in children and adolescents; it is uncommon in adults.
(Choice E) Thyrotoxicosis can lead to high-output congestive heart failure, but it does not cause acute MR. Patients with Graves’ disease (hyperthyroidism) can also develop hyperpigmented, violaceous, and orange-peel textured papules (infiltrative dermopathy). The presence of velvety skin with atrophic scars is more suggestive of EDS.
Educational objective: Ehlers-Danlos syndrome is characterized by connective tissue abnormalities including joint hypermobility, recurrent joint dislocations, “velvety” hyperextensible skin with easy bruisability, and atrophic scars. Patients can develop acute mitral regurgitation secondary to myxomatous degeneration and rupture of the chordae tendineae.
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