Author(s): Abreu, S ; Trigo, C ; Pinto, MF
Date: 2021
Persistent ID: http://hdl.handle.net/10400.17/4893
Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
Subject(s): 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.
