Late-onset Fabry disease: The cardiac sequela

BMJ Case Rep. 2022 Jun 9;15(6):e247917. doi: 10.1136/bcr-2021-247917.

PMID: 35680278

John Tremblay, Samuel Kim, Edward Philbin

Highlights: This is the first detailed description of a late-onset phenotype of Fabry disease (FD) with c.146 G>C GLA variant. In addition, this case serves as a potent reminder to pay meticulous attention to 'red flags' accompanying left ventricular hypertrophy (LVH).

Abstract

Objective: This study provides a case of a patient with Fabry disease (FD) who, 14 years prior to being identified with FD, initially showed up with atrial fibrillation without left ventricular hypertrophy (LVH).

Findings: His severe LVH was misdiagnosed as sarcomeric hypertrophic cardiomyopathy in the interim since he had survived a myocardial infarction complicated by ventricular fibrillation. He experienced gastrointestinal problems, neuropathy, sensorineural hearing loss, and proteinuric renal disease over the course of the next four years. Eventually, the patient was readmitted due to an overt heart failure (HF) exacerbation and was seen by an HF cardiologist. Further diagnostic testing, such as an endomyocardial biopsy, tests to measure alpha-galactosidase A enzyme activity, and -galactosidase A gene (GLA) analysis, were performed as a result of the constellation of systemic findings. The patient was started on enzyme replacement treatment because the findings of his tests were consistent with FD.

Conclusion: This is the first thorough description of a late-onset FD phenotype with the c.146 G>C GLA variant as far as known. Additionally, this case is a strong reminder to carefully monitor any LVH-related "red flags."

Keywords: Arrhythmias, Cardiovascular system, Heart failure