Heterogeneity in a large pedigree with Danon disease: Implications for pathogenesis and management.

ABSTRACT:

Background

Danon disease is an X-linked disturbance of autophagy manifesting with cognitive impairment and disordered heart and skeletal muscle. After a period of relative stability, patients deteriorate rapidly and may quickly become ineligible for elective heart transplantation - the only life-saving therapy.

Methods

We report a large pedigree with diverse manifestations of Danon disease in hemizygotes and female heterozygotes.

Results

Malignant cardiac arrhythmias requiring amiodarone treatment induced thyroid disease in two patients; intractable thyrotoxicosis, which enhances autophagy, caused the death of a 21year-old man. Our patients also had striking elevation of serum troponin I during the accelerated phase of their illness (p<0.01) and rising concentrations

SUBMITTER: Roos JCP 

PROVIDER: S-EPMC6588538 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature