Multivalvular Replacement and Ventricular Arrhythmias in a Female Child With Congenital Polyvalvular Disease

Area of Science:

• Pediatric Cardiology
• Clinical Genetics
• Congenital Heart Disease

Background:

• Congenital polyvalvular disease (CPVD) is characterized by congenital malformations of multiple heart valves.
• Genetic factors are often implicated, but cases with normal karyotype and chromosomal microarray are less understood.
• Early diagnosis and management are critical for patient outcomes.

Observation:

• A female infant presented with clinical features suggestive of CPVD.
• Despite a normal karyotype and chromosomal microarray, the patient exhibited dysplastic changes in multiple cardiac valves.
• The patient developed medically refractory multifocal ventricular arrhythmia requiring intervention.

Findings:

• The patient underwent radiofrequency ablation at seven months for ventricular arrhythmia.
• Progressive dysfunction of tricuspid, pulmonary, and mitral valves led to right heart failure.
• Multivalvular replacement was necessary at 21 months of age.

Implications:

• This case highlights CPVD as a potential diagnosis even with normal chromosomal analysis.
• It underscores the importance of early recognition and aggressive management of arrhythmias and valve dysfunction in CPVD.
• Further research into the genetic underpinnings of CPVD in chromosomally normal individuals is warranted.