Periventricular nodular heterotopia and cardiovascular defects

Area of Science:

• Neurology
• Cardiology
• Genetics

Background:

• Periventricular nodular heterotopia (PNH) is a rare congenital brain anomaly.
• Previous reports link PNH to aortic aneurysms and Ehlers-Danlos syndrome (EDS).

Purpose of the Study:

• Investigate the association between PNH and cardiovascular anomalies in an Asian population.
• Clarify the prevalence of EDS in Asian patients with PNH.

Main Methods:

• Screened patients diagnosed with brain heterotopia via MRI at a major hospital (1994-2010).
• Evaluated index cases and their family members for PNH and cardiovascular anomalies.
• Assessed for symptoms related to Ehlers-Danlos syndrome.

Main Results:

• Identified one family (5 patients) and one sporadic case with PNH and cardiovascular anomalies.
• Observed aortic root aneurysm (2), aortic regurgitation (1), and minor valvular disease (1).
• Found no cases of EDS among the studied Asian patients with PNH.

Conclusions:

• PNH exhibits clinical heterogeneity, with varying cardiovascular manifestations.
• Aortic aneurysms and valvular heart disease are common in PNH patients.
• Ehlers-Danlos syndrome appears uncommon in Asian individuals with PNH.