A 54-year-old woman presented to our clinic for the first time in February 2024, reporting exertional dyspnea. Cardiological examination, electrocardiography, and transthoracic echocardiography (TTE) were performed. During the cardiological examination, the patient reported no comorbidities, denied medication use, and stated that she was a non-smoker. The electrocardiogram revealed left ventricular hypertrophy. TTE revealed the following: enlarged left ventricular cavity with normal wall thickness (end-diastolic diameter 54 mm, interventricular septum 10 mm, posterior wall 10 mm, and end-diastolic volume index 66 mL/m2); systolic function preserved globally and regionally; impaired diastolic function with a relaxation pattern; normal estimated filling pressures (ejection fraction 65%); atrial cavities of normal dimensions (left atrial volume 43 mL); aortic valve central regurgitation causing severe aortic insufficiency (Figure 1) normal aortic root and ascending aorta dimensions with preserved sinotubular junction morphology (root 33 mm; ascending segment 34 mm); and no other valvular abnormalities.
The patient was referred for preoperative transoesophageal echocardiography (TEE), which revealed a quadricuspid morphology of the aortic valve in both 2D (Figure 2, Video 1) and 3D (Figure 3, Video 2), which was classified as type A according to Hurwitz and Roberts [1] and was characterized by four perfectly equal cusps (TTE and TEE were performed with a Philips Epiq CVxi instrument). Computed tomography (CT) confirmed the quadricuspid aortic valve (Figures 4 and 5) and excluded coronary artery disease.
The heart team decided to proceed with surgical valve replacement rather than transcatheter aortic valve implantation, on the basis of guidelines [2], as well as additional considerations including the valve’s relatively complex morphology, the patient’s relatively young age and long life expectancy, the durability of surgical prostheses, the absence of comorbidities, the low surgical risk, and the patient’s preference. These factors were considered to ensure the best long-term outcomes for the patient. The procedure involved implantation of a 21 mm Inspiris Resilia bioprosthesis via mini-sternotomy. The surgical findings (Figure 6) confirmed the nature of the valve, characterized by four cusps of equal size (two right, one left, and one non-coronary). The prosthesis size was determined with cardiac CT and direct measurement. The procedure was performed through a mini-sternotomy between the second and fourth intercostal spaces. No complications or special circumstances occurred during the surgery. The procedure lasted 3 hours and 40 minutes, and the patient was hospitalized for 14 days, including 2 days in the cardiology intensive care unit.
The transesophageal examination effectively demonstrated the quadricuspid valve type, which was corroborated by other diagnostic tests and direct surgical inspection.
Postoperatively, the patient was discharged in stable condition, with a mean transvalvular gradient of 13 mmHg and no paravalvular leaks. The atria and right ventricle were of normal size, whereas the left ventricle remained enlarged, with preserved regional and global systolic function. The patient was seen for follow-up at 3 months, at which time the valve was functioning perfectly, and the mean valve gradient remained unchanged. Cardiac dimensions and function were normal.
Quadricuspid aortic valve is a rare malformation occurring in approximately 0.003% to 0.043% of all congenital heart defects [1]. Its embryological origin is unknown [3], and it appears as an isolated congenital anomaly [1], which can also be associated with other malformations, including Ehlers-Danlos syndrome [4]; Williams syndrome [5]; and, in 10% of cases, coronary artery anomalies [6]. Although it is a congenital malformation, it is frequently detected only in adulthood, because of the deterioration of valve function. For asymptomatic quadricuspid aortic valve, the management generally involves regular surveillance, including periodic echocardiographic assessments, to monitor for any signs of valve dysfunction or progression of regurgitation. Decisions regarding interventions should follow established guidelines for aortic valve disease, which consider factors such as symptom development, valve function, and hemodynamic changes. The precise mechanisms leading to valve deterioration in patients with a quadricuspid aortic valve are not fully understood. Flow disturbances and abnormal valve movement have been hypothesized to contribute to early valve dysfunction. The unique anatomy of a quadricuspid valve might result in irregular stress distribution and turbulence, which in turn might accelerate the degenerative changes in the valve. The presence of a quadricuspid aortic valve has several clinical implications. Its rarity and complex morphology can affect clinical decision-making, because this anatomical feature may influence valve function and durability. In our patient, the decision to proceed with surgical valve replacement was based on the unique characteristics of the valve, including its complexity, the patient’s relatively young age and long life expectancy, and the potential benefits of a durable prosthesis. These factors, together with the absence of comorbidities, low surgical risk, and patient preference, led the heart team to opt for surgery over transcatheter aortic valve implantation.
Our case is common as the diagnosis of quadricuspid aortic valve was made in the fifth decade of life, following the onset of symptoms and confirmation of severe regurgitation through TTE. This timing underscores the frequently delayed diagnosis of this condition, particularly because valve dysfunction may become evident later in life. However, our patient did not present with any other malformations or anomalies. Use of advanced cardiac imaging techniques such as TEE and CT, and periodic monitoring, would be beneficial for patients with suspected aortic valve anomalies, particularly those with valve dysfunction symptoms or unexplained heart murmurs. For patients with a family history of congenital heart defects, targeted screening could aid in early identification of quadricuspid aortic valve. Establishing a global database to collect data patient demographics, clinical presentations, imaging results, treatment approaches, and long-term outcomes could help patients and clinicians, by facilitating the development of more appropriate guidelines and exploration of genetic causes.