RESUMO
La miocardiopatía hipertrófica es la cardiopatía monogénica más frecuente. Su expresión fenotípica es bastante variable. Hasta en un 60% de los casos se describen mutaciones en los genes que codifican las proteínas del sarcómero cardiaco. La secuenciación masiva del ácido desoxirribonucleico posibilita descubrir nuevos genes responsables de la enfermedad, pero tiene el inconveniente de descubrir numerosas variantes de significado incierto en estos pacientes. La estrategia ante las mismas, sobre todo cuando no se segregan con la enfermedad, es uno de los retos de la genética. Los criterios de patogenicidad pueden ayudar a catalogar esa variante. Las pruebas genéticas al caso índice permiten realizar un diagnóstico y la posibilidad de efectuarlo en cascada a los familiares de primer grado. La presencia, o no, de un genotipo positivo en los familiares determinará las pautas de seguimiento posteriores. La aparición de un genotipo positivo empeora el pronóstico, independientemente del tipo de mutación
Hypertrophic cardiomyopathy is the most common monogenic heart disease. Its phenotypic expression is quite variable. In up to 60% of the cases, mutations are described in the genes coding for cardiac sarcomer proteins. Massive sequencing of deoxyribonucleic acid makes it possible to discover new genes responsible for the disease, but it has the disadvantage of discovering numerous variants of uncertain significance in these patients. The strategy used, especially when they do not segregate with the disease, is one of the challenges of genetics. Pathogenicity criteria may help to catalogue this variant. The genetic tests on the index case a diagnosis to be made, and the possibility of cascading to first degree relatives. The presence or not of a positive genotype in the relatives will determine the subsequent follow-up guidelines. The appearance of a positive genotype is a poor prognosis regardless of the type of mutation
Assuntos
Humanos , Cardiomiopatia Hipertrófica/diagnóstico , Predisposição Genética para Doença , Triagem de Portadores Genéticos , Cardiomiopatia Hipertrófica/genética , Genótipo , Mutação , Fenótipo , Prognóstico , Análise de Sequência de DNARESUMO
Hypertrophic cardiomyopathy is the most common monogenic heart disease. Its phenotypic expression is quite variable. In up to 60% of the cases, mutations are described in the genes coding for cardiac sarcomer proteins. Massive sequencing of deoxyribonucleic acid makes it possible to discover new genes responsible for the disease, but it has the disadvantage of discovering numerous variants of uncertain significance in these patients. The strategy used, especially when they do not segregate with the disease, is one of the challenges of genetics. Pathogenicity criteria may help to catalogue this variant. The genetic tests on the index case a diagnosis to be made, and the possibility of cascading to first degree relatives. The presence or not of a positive genotype in the relatives will determine the subsequent follow-up guidelines. The appearance of a positive genotype is a poor prognosis regardless of the type of mutation.
