No abstract

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.

Malignant arterial hypertension (MAH) is a hypertensive emergency associated with grade III or IV retinopathy. Focal segmental hyalinosis (FSH), of late onset, is one of its rare entities, with an incidence of 7 per million, responsible for 15-20% of nephrotic syndromes in adults. We report a case of segmental and focal hyalinosis in a 27-year-old patient with no previous history of malignant hypertension, who consulted us for neurosensory signs and ocular redness. The clinical examination showed a hypertensive peak at 240/150mm Hg with myocardial hypertrophy confirmed by electrocardiogram and transthoracic echo. A fundus examination completed by an optical coherence tomography revealed a KIRKENDAL stage III retinopathy associated with an occlusion of a branch of the central retinal vein. An impure nephrotic syndrome associated with renal failure was observed. A biopsy of a fragment of renal parenchyma supplemented by pathology was performed in favour of FH with chronic tubulointerstitial disease. The patient was managed urgently with nicardipine 3-5mg/hr by electric syringe within 24 hours, followed by a triad of antihypertensive drugs consisting of amlodipine, indapamide and Ramipril at full dose combined with prednisone 60mg/day for 4 months with a 6 month taper. The evolution was marked by a normalisation of the renal function, disappearance of the proteinuria and even a normalisation of his eye fundus after one year. FSH constitutes a group of heterogeneous pathologies with multiple causes, of which malignant hypertension is a secondary one, requiring not only symptomatic but also etiological management.

Introduction Familial hypercholesterolemia is a monogenetic, autosomal dominant, predominantly heterozygous disease that affects 1/500 births and only 20% of cases are diagnosed. Diagnosis is based on family history, clinical manifestations and complications, hypercholesterolemia on biological tests with genetic confirmation of the mutation by the MedPed score. Complications occur early, before the age of 55 in men and 60 in women, and are even more virulent in the homozygous form Case presentation We report the case of a 36-year-old, nonobese patient with a history of HF in the mother at age 52 years, complicated by stroke, and acute coronary syndrome on two occasions at age 44 years in the older brother. He was admitted to the hospital for a revascularized myocardial infarction in the right coronary artery by primary angioplasty. Clinical examination was normal, lipid profile showed hypercholesterolemia (HCT) with LDL-CT = 3.64 g/L, HDL-CT = 0.32 g/L and TG = 2.1g/L. The MedPed score was 12 points with a copy of the LDL receptor gene on the genetic sample. The patient received a high-dose statin combined with adherence to healthy dietary measures. Genetic screening of the rest of the family was performed. Conclusion HF is a common but not well understood disease. Diagnosis should be made very early when the disease is suspected using the MedPed score of possible(3–5 points), probable(6–8 points) and certain(> 8 points) with genetic confirmation. Screening should be done very early in the family with drug treatment from the age of 8 years if the diagnosis is confirmed.

No abstract