Progeroid Syndrome with Mitral Regurgitation: A Rare Case Report

Abstract

AbstractProgeroid syndromes (PS) involve the disorder of early aging. Although survival of progeria syndrome patients is nearly 15 years as per literature, the adult onset progeroid starts manifesting in the third decade. Here, we are presenting a rare case of progeroid at the age of 45 years with mitral regurgitation (MR). The patient has alopecia, dry skin, frontal bossing, up staring eyes with bilateral corneal opacities, prominent nose with parrot beak appearance, thin upper lip, large, low-set ears, periorbital hyperpigmentation, micrognathia, retrognathia, and hyperpigmentation over lower abdomen/both feet and hands. Facial and skeletal manifestation are the major clinical features of the PS; along with the characteristics mentioned above, the patient also had severe eccentric MR. This patient has PS with mitral valve prolapse and severe MR. Most of the features of progeria exist in this patient, which manifested at a younger age. However, the progression of the external features and survival up to 45 years favors PS instead of progeria. Therefore, genetic analysis is mandatory to confirm. We are reporting this case due to the rarity of onset of symptoms within a younger age group; however, the progression of the disease was very slow, which may be a another variant of progeria/PS.