Congenital Gerbode Defect: A Left Ventricular to Right Atrial Shunt—State-of-the-Art Review of Its General Data, Diagnostic Modalities, and Treatment Strategies

Abstract

The congenital Gerbode defect is defined as an abnormal communication between the left ventricle and the right atrium. This review aimed to summarize existing evidence, shed light on the clinical implications, and identify knowledge gaps. The systematic literature search was conducted in the PubMed and Google Scholar medical databases using specifically selected keywords. The inclusion of each publication was assessed according to predefined eligibility criteria based on the PICOM (Population, Phenomenon of Interest, Context, Methodology) schema. Titles and abstracts were screened independently by two authors. Available full-text versions of included publications were reviewed and relevant information was extracted. A total of 78 reports were included. The compilation of all congenital Gerbode defect cases described in the literature revealed a variety of clinical presentations comprising dyspnea, palpitations, growth retardation, and asymptomatology. A suitable multimodal diagnostic approach for newborns consists of auscultation, TTE, and optionally TEE and MRI. Because of its rarity, diversity of findings, unknown pathophysiology, and similarity to more common cardiac diseases, the diagnostic challenge remains significant. To prevent untreated long-term sequelae, early individualized treatment is recommended. Surgical defect closure is preferred to device closure for evidence reasons, although major developments are currently taking place. In conclusion, the congenital Gerbode defect provides a diagnostic challenge for pediatricians to allow early diagnosis and intervention in order to improve patients’ quality of life.