Laubry-Pezzi Syndrome: A Rare Congenital Heart Disease in Sub- Saharan Africa
Introduction: Laubry-Pezzi syndrome was first described by Charles Laubry and Cesare Pezzi in 1921. It is a rare congenital heart disease in clinical practice, characterized anatomopathologically by aortic regurgitation due to prolapse of an aortic valve cusp, most commonly the right cusp, and a ventricular septal defect.
Case presentation: The authors report a medical observation of a 29-year-old young man followed in the cardiology department B of Brazzaville University Hospital for dyspnea, intermittent constrictive chest pain, and palpitations. The onset of symptoms dates back more than 7 years with dyspnea during significant exertion, which had not received any medical attention. Due to the appearance of frequent anginal pain, mostly on exertion, and stage III NYHA dyspnea, the patient consulted at Brazzaville University Hospital.
Clinical examination revealed a particular morphotype with distinct facial features and short stature. The patient was afebrile. Cardiovascular examination showed arterial hyperpulsatility, an intense steam-jet systolic regurgitation murmur in the precordial area radiating in a wheel-spoke pattern, and a 4/6 soft, high-pitched diastolic murmur of aortic insufficiency. There were no signs of heart failure.
Paraclinical investigations revealed left ventricular hypertrophy on electrocardiogram. Transthoracic echocardiography coupled with Doppler showed a perimembranous ventricular septal defect associated with grade 4 aortic regurgitation. The aortic regurgitation was primarily due to prolapse of the right cusp of the aortic valve, and left ventricular dilatation with preserved left ventricular ejection fraction at 62%. Pending corrective surgery, symptomatic medical treatment based on angiotensin-converting enzyme inhibitors and nitrate derivatives had been instituted. The patient's hemodynamic status is stable except for dyspnea during significant physical exertion. Cardiovascular surgery has not yet been performed to date.
Conclusion: Laubry-Pezzi syndrome is a rare congenital heart disease; its diagnosis is made by echocardiography and its treatment is surgical.