RESUMO
Dilated cardiomyopathy (DCM) is a condition characterized by non-ischaemic heart failure and is often hereditary. We present a family in which the proband had DCM in isolation while several relatives presented with myotonia, hypotonia, poly-hydramnion during pregnancy or a mental handicap. The disease presentation and subsequent genetic investigations were consistent with a diagnosis of dystrophia myotonica. This case presentation illustrate that DCM may be part of a systemic condition and that familial investigations may have important implications for correct diagnosis, treatment and counseling.
Assuntos
Cardiomiopatia Dilatada , Distrofia Miotônica , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/genética , Cesárea , Feminino , Predisposição Genética para Doença , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Pessoa de Meia-Idade , Distrofia Miotônica/complicações , Distrofia Miotônica/diagnóstico , Distrofia Miotônica/genética , Miotonina Proteína Quinase/genética , Linhagem , Morte Perinatal , Adulto JovemRESUMO
We report on a 2-year-old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis. The patient had chronic rhinitis with malodorous nasal discharge. The girl was the second born child of first-cousin immigrants from Northern Iraq. A novel homozygous mutation (c.84delC) in the EDAR gene was identified. This mutation most likely causes a frameshift in the protein product (p.S29fs*74). This results in abolition of all ectodysplasin-mediated NF-kB signalling. This complete loss-of-function mutation likely accounts for the severe clinical abnormalities in ectodermal structures in the described patient.
