title: Familial apical hypertrophic cardiomyopathy with aneurysmal evolution--an unusual form.
abstract: The authors present the case of a 76-year-old patient with multiple vascular risk factors, admitted with acute coronary syndrome. The initial electrocardiogram was compatible with evolving anterior wall myocardial infarction and the echocardiogram showed an image interpreted in this context as left apical pseudoaneurysm. Complementary echocardiographic findings of atypical apical hypertrophy and echocardiographic screening performed on close relatives suggested apical hypertrophic cardiomyopathy as the most likely diagnosis, later confirmed by genetic study. This unusual presentation with evolution to ventricular aneurysm is probably due to progressive left ventricular apical remodeling and an echocardiographic image similar to that described points to the diagnosis of this entity. We emphasize the rarity of this phenotypic expression of apical hypertrophic cardiomyopathy, in particular with familial association.
authors.affiliation: Serviço de Cardiologia, Hospital Geral de Santo António, Porto, Portugal. isabelpsa@portugalmail.pt
authors.forename: Maria Isabel
authors.initials: MI
authors.lastname: Sá
authors.forename: Sofia
authors.initials: S
authors.lastname: Cabral
authors.forename: A Hipólito
authors.initials: AH
authors.lastname: Reis
authors.forename: L Sousa
authors.initials: LS
authors.lastname: Pereira
authors.forename: Filomena
authors.initials: F
authors.lastname: Oliveira
authors.forename: Severo
authors.initials: S
authors.lastname: Torres
authors.forename: J Lopes
authors.initials: JL
authors.lastname: Gomes
mesh_terms: D000368:Aged; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000150:complications*; D006322:Heart Aneurysm / Q000209:etiology*; D006801:Humans; D008297:Male