Late diagnosis of congenital cardiovascular defect

Area of Science:

• Cardiology
• Congenital Heart Disease
• Adult Congenital Heart Disease

Background:

• Coarctation of the aorta (CoA) is a common congenital anomaly typically treated in infancy.
• Adults with uncorrected CoA often have associated cardiac disorders and face significant mortality risks from complications like heart failure, myocardial infarction, and aortic dissection.

Observation:

• A 65-year-old woman presented with worsening heart failure (NYHA class IV), refractory hypertension, and stenocardia.
• Initial evaluations revealed severe mitral and tricuspid valve regurgitation with progressive left ventricular dysfunction.
• In-hospital imaging unexpectedly identified a discontinuity in the descending aorta at the aortic isthmus, revealing previously undiagnosed coarctation of the aorta.

Findings:

• The patient's symptoms of heart failure and valve regurgitation were attributed to the uncorrected coarctation of the aorta.
• The congenital defect was the underlying cause of her cardiac pathology, presenting late in life.

Implications:

• This case underscores the importance of considering congenital heart disease, specifically coarctation of the aorta, in adult patients presenting with seemingly acquired cardiac conditions.
• Late diagnosis of coarctation can lead to severe, progressive cardiac dysfunction and necessitates careful management strategies.
• It highlights the potential for significant morbidity and mortality in adults with untreated coarctation of the aorta.