Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experience.

ABSTRACT:

Background

Inherited metabolic diseases (IMDs) can affect the heart, but data on cardiac manifestations in adults are scarce. This study examines the clinical and radiological features of cardiac complications in adults with IMDs.

Methods

This retrospective study included adult patients at our metabolic clinic with a biochemical and/or genetic diagnosis of IMD who underwent cardiac investigations. Records were reviewed for clinical features, echocardiograms, electrocardiograms, and treatment. Patients were categorized into three IMD subgroups: disorders of small molecules, complex molecules, and energy production.

Results

Of the 115 adult patients with IMD, 48 underwent cardiac testing (mean age 39.1 ± 14.8 years). Abnormal cardiac findings were reported in 23 of thes

SUBMITTER: Sadiku F 

PROVIDER: S-EPMC12018057 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature