RESUMEN
Actin α2 (ACTA2) is a protein crucial for proper functioning of contractile apparatus in smooth muscles. A specific mutation resulting in substitution of arginine at position 179 by histidine (p.R179 H) in ACTA2 has been shown to be associated with multisystemic smooth muscle dysfunction syndrome. Characteristic features include aneurysmal arterial disease. Due to rarity of this disease, we report a nine-year-old girl with this rare genetic variant in whom cardiovascular manifestations were identified in fetal life and who needed neonatal cardiac surgical intervention.
Asunto(s)
Actinas/genética , Aneurisma/genética , ADN/genética , Conducto Arterioso Permeable/diagnóstico , Conducto Arterial/anomalías , Mutación , Arteria Pulmonar/anomalías , Actinas/metabolismo , Aneurisma/diagnóstico , Aneurisma/metabolismo , Análisis Mutacional de ADN , Conducto Arterial/diagnóstico por imagen , Conducto Arterioso Permeable/genética , Ecocardiografía , Femenino , Humanos , Recién Nacido , Embarazo , Arteria Pulmonar/diagnóstico por imagen , Arteria Pulmonar/fisiopatología , Adulto JovenRESUMEN
Congenital ductus arteriosus aneurysms develop in the third trimester of fetal life, possibly due to abnormal intimal cushion formation or elastin expression in the ductal wall. It is often diagnosed in infants before 2 months of age. Most have a benign course and resolve spontaneously. However, life-threatening complications have been reported. We report a case of large ductal aneurysm diagnosed incidentally in a neonate, in whom there was a novel mutation in the smooth muscle myosin protein gene-MYH11.
Asunto(s)
Aneurisma/diagnóstico por imagen , Conducto Arterioso Permeable/diagnóstico por imagen , Conducto Arterial/diagnóstico por imagen , Cadenas Pesadas de Miosina/genética , Aneurisma/genética , Conducto Arterioso Permeable/genética , Ecocardiografía Doppler en Color , Humanos , Recién Nacido , Masculino , MutaciónRESUMEN
Mutations in fibrillin 1 cause Marfan syndrome (MFS), an autosomal dominant disorder of the connective tissue, with multisystem manifestations. In early-onset MFS, the physical characteristics are expressed much earlier than the classical MFS. Those affected by this form generally have their mutations restricted to the gene "hotspot" region of exons 24 to 32. Historically, affected individuals usually die within the first few years of life due to heart failure secondary to severe valvular insufficiency. We report three patients with early-onset MFS, whose clinical evolution has been remarkably positive, when compared with other reported cases in the literature.
