The Gerbode defect is a rare left ventricle-to-right atrium shunt, often misdiagnosed as tricuspid regurgitation, and may be either congenital or acquired. We report two cases: one acquired Gerbode defect following redo mechanical mitral valve replacement surgery, presenting with dyspnea and progressive heart failure; and one incidental congenital Gerbode defect in an asymptomatic patient. In both cases, Cardiac Magnetic Resonance (CMR) clarified shunt anatomy and informed management decisions. The first patient underwent successful percutaneous closure under Digital Subtraction Angiography (DSA), while the second received conservative follow-up due to the absence of symptoms. CMR complemented echocardiography by delineating anatomical features, particularly when acoustic windows were limited, and supported post-treatment evaluation.

Gerbode defect is a left ventricular-to-right atrial shunt. Sinus of Valsalva aneurysm is an abnormal outpouching at the base of the aorta caused by incomplete fusion between aortic media and annulus fibrosus. Both pathologies are rare entities, found as congenital heart disease mainly in pediatrics or young adults. A presentation of both pathologies in an elderly gentleman without evidence of acquired causes is extremely rare. We report a 58-year-old man who presented with acute congestive heart failure. Echocardiography showed features of ruptured Sinus of Valsalva aneurysm at the right coronary cusp and severe tricuspid regurgitation. With the intention of assessing the cardiac shunt in more detail, the echocardiography was repeated by an experienced pediatric cardiologist which yielded, to our surprise, a Gerbode defect on top of the ruptured Sinus of Valsalva aneurysm. The patient underwent repair of both defects with a single polytetrafluoroethylene patch through dual approach with good outcome. The diagnostic challenge, surgical technique and approach are discussed.

Background and Clinical Significance: Infective endocarditis (IE) is a serious condition with rising incidence, frequently caused by Staphylococcus aureus. However, cases involving rare congenital anomalies such as Gerbode's defect are uncommon. Case Presentation: This report presents the first documented case of IE in a patient with a congenital Gerbode defect complicated by DRESS syndrome-a severe, drug-induced hypersensitivity reaction typically triggered by antibiotics like oxacillin. A 65-year-old woman developed infective endocarditis involving vegetations on the cardiac device lead, the tricuspid valve, and adjacent to a Gerbode defect. The diagnosis was confirmed by positive blood cultures and echocardiographic findings. She received treatment with oxacillin. Subsequently, she exhibited clinical features consistent with DRESS syndrome, including rash, eosinophilia, and multi-organ involvement. Rapid recognition and management, including corticosteroid therapy and antibiotic modification, led to clinical improvement. Conclusions: This case highlights the importance of vigilance for DRESS syndrome in prolonged antibiotic therapy for IE, especially in the context of rare congenital cardiac anomalies. In addition, guidelines are needed to optimize the diagnosis and treatment of this potentially lethal complication.

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.

The Gerbode defect is an infrequent cardiac anomaly, with an incidence below 1 % in current worldwide literature. It consists of a communication between the left ventricle and right atrium in the membranous septum with consequential hemodynamical and structural heart changes and can present as either congenital or acquired. The concomitant affectation of the tricuspid valve poses its difficulty as a diagnostic and therapeutical challenge. This case report presents a 27-year-old patient with an incidental finding of congenital Gerbode defect with hemodynamical repercussion during surgical treatment for multidisciplinary management in the context of open thoracic trauma. This defect has been infrequently described in the literature, and although several classification methods have been proposed, its diagnosis is challenging and must be considered when faced with nonspecific cardiac systems. It reports an infrequent congenital heart defect posing as traumatic or postoperative, generating a challenging diagnosis and successful surgical treatment given to the patient using a multidisciplinary approach to further broaden scientific literature on such an underrepresented pathology.