Laubry–Pezzi syndrome: three case reports and review of the literature

Introduction and importance:

Laubry–Pezzi syndrome is a rare congenital heart disease characterized by the association of ventricular defect septal to aortic cusp prolapse responsible for aortic regurgitation (AR).

Case presentation:

We reported three cases of Laubry–Pezzi syndrome diagnosed in our department of cardiology on a cohort of more than 3000 cases of congenital heart disease. A 13-year-old patient presented a Laubry–Pezzi syndrome with severe AR and significant volumetric left ventricle overload and was operated on in time to allow a good evolution of his condition. A 43-year-old patient, followed for congenital cardiac pathology, presented with severe dyspnea. The echocardiogram found global dysfunction of the left ventricle with an ejection fraction of 35%, a perimembranous ventricular septal defect (VSD) almost completely closed by the prolapse of the noncoronary cusp, and severe eccentric aortic insufficiency due to the prolapse of the noncoronary cusp. Aortic valve replacement and VSD closure were indicated. The third patient is a 21-year-old patient with Down syndrome, in whom a grade 2/6 systolic murmur was detected. Transthoracic echocardiography revealed a perimembranous VSD measuring 4 mm without any hemodynamic repercussions and a moderate aortic insufficiency due to the prolapse of the noncoronary cusp. Clinical and echocardiographic monitoring with Osler prevention was indicated as a modality of management.

Clinical discussion:

The pathophysiology is explained by the Venturi effect, the restrictive shunt of the VSD creates an area of low pressure that sucks the adjacent cusp resulting in aortic prolapse and regurgitation. The diagnosis is essentially based on transthoracic echocardiography; it must be conducted before the emergence of AR. The management of this rare syndrome still remains nonconsensual, whether it is through timing or operative techniques.

Conclusion:

Management must be early by closing the VSD with or without aortic valve intervention to prevent the onset or worsening of AR.

Introduction

Highlights

• Laubry–Pezzi syndrome is a rare congenital heart disease occurring insidiously.

• It occurs in a patient with ventricular septal defect associated with aortic regurgitation by prolapse of an aortic cusp.

• The diagnosis is essentially based on transthoracic echocardiography.

• Treatment consists of early closure of the ventricular septal defect to prevent the development or progression of aortic insufficiency.

Laubry–Pezzi syndrome is a rare congenital heart disease characterized by a ventricular septal defect (VSD) with aortic regurgitation (AR) due to prolapse of an aortic cusp. Echocardiography is the key examination for diagnosing and determining the type of VSD and the severity of AR. Management of Laubry–Pezzi syndrome is not well codified, but early closure of the VSD should be indicated to prevent the onset or worsening of AR. We report three cases of Laubry–Pezzi Syndrome patients that were treated in our cardiopediatric unit of the Department of Cardiology.

Case presentation

This work has been reported in line with the SCARE (Surgical CAse REport) 2020 criteria1.

Case No. 1

A 13-year-old patient was referred to the congenital unit of the Cardiology Department of the IBN Rochd University Hospital Center for chronic and isolated dyspnea, rated stage II of NYHA (New York Heart Association).

Auscultation findings revealed a grade 5/6 systolic murmur with a thrill at the lower left sternal border and a discreet aortic diastolic murmur.

The transthoracic echocardiography (TTE) showed:

• Very dilated left ventricle (LV) [left ventricular end-diastolic diameter (LVEDD)=65 mm], with a good function.

• VSD below the aortic valve, measuring 18 mm wide (Fig. 1A, B), closed partially by right coronary cusp prolapse (Fig. 2) with a left to right restrictive shunt (trans-VSD gradient=120 mmHg).

• Three aortic sigmoids with right coronary cusp prolapse causing severe AR (Fig. 3) with an end-diastolic velocity of 34 cm/s.

Figure 1.

(A, B) Subaortic ventricular septal defect.

Figure 2.

Right coronary cusp prolapse.

Figure 3.

Severe aortic regurgitation.

It was, therefore, a Laubry–Pezzi syndrome with severe AR and significant volumetric LV overload.

Closure of the VSD and aortic valve repair was indicated. The patient was operated on with no postoperative complications.

Case No. 2

This was a 43-year-old patient with no cardiovascular risk factors and no notable medical history, hospitalized in the cardiology department for evaluation of his congenital heart disease. The patient consulted 4 months prior to his hospitalization due to the emergence of a progressively worsening exertional dyspnea, associated with palpitations.

Clinically, the cardiovascular examination noted a hyperkinetic carotid pulse and a grade 4/6 aortic diastolic murmur.

TTE showed:

• Very dilated LV (LVEDD=84 mm), globally dysfunctional, with an ejection fraction estimated at 35% (Fig. 4).

• Perimembranous VSD almost completely closed by the prolapse of the noncoronary cusp (Fig. 5).

• Severe eccentric aortic insufficiency due to the prolapse of the noncoronary cusp (AR regurgitant orifice area=40 mm², AR regurgitating volume=74 ml, and end-diastolic velocity=25 cm/s) (Fig. 6).

Figure 4.

Left ventricle dilatation.

Figure 5.

Perimembranous ventricular septal defect.

Figure 6.

Severe aortic regurgitation.

Electrocardiogram and coronary angiography were normal.

The biological assessment (complete blood count, renal and hepatic function, c-reactive protein, and hemostasis tests) was normal, apart from microcytic hypochromic anemia of 9.4 g/dl.

Aortic valve replacement and VSD closure were indicated. The patient was operated on after stabilization of his condition with good postoperative follow-up; dyspnea disappeared on Day 1.

Case No. 3

This was a 21-year-old patient with Down syndrome, referred to the congenital unit of the Cardiology Department for a cardiac evaluation as part of a preoperative assessment of noncardiac surgery. This patient had been followed in the Neurology Department for epilepsy since the age of 10, which was well controlled under valproic acid.

The patient was asymptomatic. On physical examination, a grade 2/6 systolic murmur was detected.

TTE revealed a perimembranous VSD measuring 4 mm, without any hemodynamic repercussions, and a moderate aortic insufficiency due to the prolapse of the noncoronary cusp.

Clinical and echocardiographic monitoring with Osler prevention was indicated as a modality of management. The control is done every month, and after 2 years, the patient is doing well and remains asymptomatic. It was decided to space out the check-ups to 3 months and to consult with his neurologist for any new event in the management of his Down syndrome.

Discussion

Laubry–Pezzi syndrome is a rare congenital heart disease occurring insidiously2,3. The prevalence of aortic valve prolapse is 5–8% in perimembranous VSD, with a male predominance4,9. The first description of the clinical features of Laubry–Pezzi syndrome was made in 1921 by Charles Laubry and Cesare Pezzi, in a patient presenting with VSD associated with AR by prolapse of an aortic cusp2,5.

Anatomically, this functional association seems more frequent in the case of perimembranous VSD, causing a prolapse of the right coronary cusp or less frequently of the noncoronary cusp due to a lack of continuity between the ventricular septum and the aortic sinus5–7. In our case, the VSD was perimembranous in two out of the three patients, and it was subaortic in the first observation. The right coronary cusp was the affected cusp in the first observation, whereas it was the noncoronary cusp in the second and third observations.

The pathophysiology is explained by the Venturi effect, the restrictive shunt of the VSD creates an area of low pressure that sucks the adjacent cusp resulting in aortic prolapse and regurgitation6–9. Patients are either asymptomatic or describe progressive exertional dyspnea, whether or not associated with palpitations. Auscultation may find a pan-systolic murmur in the lower left sternum related to the VSD and possibly a diastolic murmur of AR10.

The diagnosis is essentially based on TTE; it must be conducted before the emergence of AR3. TTE allows the diagnosis of VSD and determines its location and size, the prolapse of an aortic cusp responsible for AR, and its severity and repercussions11–13.

The location of the VSD frequently found is juxtaarterial or perimembranous, as is the case in our three patients4–7,16. The prolapse of the noncoronary cusp and that of the right coronary cusp are most implicated in the onset of aortic insufficiency, as found in the literature6–8. There is an increased risk of infective endocarditis with progressive aortic valve dysfunction in patients with Laubry–Pezzi syndrome13.

The management of this rare syndrome still remains nonconsensual, whether it is through timing or operative techniques3,6,17. However, it is recommended for early closure of the VSD to prevent the occurrence or progression of aortic insufficiency3,11,13,14. Once prolapse and regurgitation of the aortic valves have set in, surgery to close the VSD alone without intervention on the aortic valve may not be sufficient, hence the importance of early closure of the VSD. Repair or replacement of the aortic valve may therefore prove necessary in these patients with AR3,20. Aortic valve repair is to be preferred in these young patients in order to avoid exposing them to the lifelong anticoagulant treatment of a replacement.

Yacoub’s technique of VSD closure can be safely considered in these patients. A case of a modified Bentall procedure incorporating Yacoub’s was also successfully performed on one patient15,18,21. Transcatheter closure of VSD may be an option in Laubry–Pezzi syndrome if the aortic valve prolapse is mild, its success rate is estimated at 79%16,19. In our two first patients, closure of the VSD was indicated with a suspension of the right coronary cusp in one case and aortic valve replacement in the second patient. Osler monitoring and preventive measures were indicated in our third patient.

The generally favorable postoperative course can be marred by complications. They occur more frequently in the presence of certain factors, such as the size of the VSD, the severity of the AR, the age at the time of the operation, and the number of prolapsed cusps14,21.

These are essentially conduction disorders such as atrioventricular block, residual VSD, reoperation, residual right atrium, arrhythmia, pseudoaneurysm of the aortic root, and rarely neurological complications6,16,21.

Conclusion

Laubry–Pezzi syndrome is a rare heart disease requiring early diagnosis by echocardiography. Most often, perimembranous or supracristal VSD is responsible for prolapse of the noncoronary or right coronary cusp leading to AR.

Management must be early by closing the VSD with or without aortic valve intervention to prevent the onset or worsening of AR.

Ethical approval

Not applicable.

Patient consent

Written informed consent was obtained from the patient for the publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request. For the young patient, consent was obtained from his parents, who kindly granted permission to publish the case.

Sources of funding

None.

Author contribution

M.B.C.: corresponding author and writer of the paper; Y.E., N.M.M.M., and S.A.: writers of the paper; A.N.D.: correction of the paper and approval of it.

Conflicts of interest disclosure

The authors have no conflicts of interest.

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