IntroductionEndothelin-1 (ET-1) gene polymorphisms are implicated in pathogenesis of idiopathic pulmonary arterial hypertensionMaterial and methodsWe studied ET-1 (Lys198Asn and 3A/4A) and endothelin receptor A (ETA) gene (His323His) polymorphisms in 123 subjects with pulmonary hypertension associated with rheumatic mitral valve disease (PH-MVD) and 123 healthy controls.ResultsThe mutant homozygous Asn/Asn genotype in Lys198Asn and T/T genotype in His323His polymorphism was more prevalent in PH-MVD group. Presence of Asn/Asn genotype was significantly associated with increased risk (odds ratio 3.9).ConclusionsET-1 and ET<sub>A</sub> gene polymorphisms are prevalent in PH-MVD group suggesting that they may predispose to the development of PH.
Patient: Male, 39-year-old
Final Diagnosis: Degenerated bioprosthetic mitral valve
Symptoms: Chest pain • cough • dyspnea • orthopnea • paroxysmal nocturnal dyspnea
Medication: —
Clinical Procedure: Transcatheter mitral valve replacement
Specialty: Cardiology
Objective:
Unusual clinical course
Background:
A 39-year-old man with a complex valvular history of recurrent methicillin-resistant
Staphylococcus aureus
endocarditis with 2 surgical mitral valve replacements (in 2016 and 2017) followed by transcatheter mitral valve replacement (in 2019) presented with orthopnea, paroxysmal nocturnal dyspnea, chest pain, cough, and progressively worsening dyspnea on exertion.
Case Report:
Extensive workup was performed, including transesophageal echocardiogram, which revealed a malfunctioning, severely stenotic bioprosthetic valve. Left and right heart catheterization revealed mild non-obstructive coronary artery disease and severe pulmonary hypertension. Given the patient’s complex medical history, he was deemed to be at an elevated risk for repeat sternotomy and repeat valve replacement surgery. Therefore, he underwent a percutaneous transcatheter mitral valve replacement with a 26-mm SAPIEN 3 Edwards valve placed within the previous 29-mm SAPIEN valve. Post-procedural imaging revealed a well-placed valve with an improved mitral valve gradient.
Conclusions:
This is one of the few rare cases of mitral valve-in-valve via a transcatheter mitral valve replacement approach with successful deployment of a SAPIEN 3 tissue heart valve. The patient experienced significant reversal of heart failure symptoms and improved exertional tolerance following deployment of the valve and was eventually discharged home in a stable condition.
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