Cardiomyopathy. Like Mother, Like Daughter? A New Phenotype for a MYH7 Mutation

• Autor(a) principal: Abreu, S
• Data de Publicação: 2021
• Outros Autores: Trigo, C, Pinto, MF
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.17/4893
• topic: HSM CAR PED; Restrictive Cardiomyopathy; Hypertrophic Cardiomyopathy; Phenotype; MYH7 Mutation

We report the case of a six-year-old girl referred to our department due to her mother's diagnosis of hypertrophic cardiomyopathy. Initial evaluation revealed restrictive physiology on echocardiography and cardiac catheterization. Genetic analysis of both mother and daughter revealed the same genetic variant at the MYH7 gene. Notably, although the genetic mutation was the same, the phenotype differed, resulting in different management and prognosis. The daughter received a heart transplant at the age of 20 due to pulmonary hypertension's early development, whereas the mother was under heart failure medical therapy. This case relevance lies in this specific mutation, which to our knowledge, has not been previously associated with restrictive phenotype, but also on the importance of early referral of family members.