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Published on: June 23, 2015
Mitral Valve Prolapse in a Patient With Polycystic Kidney Disease
Leticia Santos1, Filipa Monteiro1, Ana C Gomes2
1Internal Medicine, Hospital Garcia de Orta, Almada, PRT.
Insights
Autosomal dominant polycystic kidney disease (ADPKD) can cause severe mitral regurgitation and valve flail. This case highlights ADPKD
Area of Science:
- Nephrology
- Cardiology
- Genetics
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder causing cysts in kidneys and other organs.
- Cardiovascular complications, including hypertension and valvular heart disease, are common in ADPKD patients.
- Mitral valve abnormalities are the predominant valvular manifestation in ADPKD.
Observation:
- A 30-year-old male with ADPKD presented with chest pain and heart failure symptoms.
- Initial evaluation revealed severe mitral regurgitation and hypokinesis.
- The patient also experienced acute limb ischemia requiring surgery.
Findings:
- Echocardiography confirmed severe mitral regurgitation due to posterior mitral valve flail.
- The mitral valve regurgitation was attributed to ADPKD, supported by clinical presentation and imaging.
- Surgical mitral valve repair was complicated by suture dehiscence.
Implications:
- This case underscores the significant cardiovascular burden of ADPKD, particularly concerning mitral valve integrity.
- Early recognition and management of cardiac complications are crucial for ADPKD patients.
- Further research into the mechanisms linking ADPKD and valvular heart disease is warranted.
Abstract:
Autosomal dominant polycystic kidney disease (ADPKD) is a multisystemic heterogeneous disease characterized by the presence of cysts in several organs leading to progressive dysfunction. The cardiovascular manifestations of ADPKD include hypertension, left ventricular hypertrophy, and valvular heart disease, predominantly mitral valve abnormalities. We present the case of a 30-year-old male with a past medical history of ADPKD who was admitted to the emergency department due to sudden chest pain and signs of congestive heart failure for weeks. Echocardiography in the emergency department showed lateral wall hypokinesis and severe mitral regurgitation. Coronary angiography revealed a small collateral branch occlusion unsuitable for revascularization. On the first day of hospitalization, the patient developed an acute ischemia of the left lower limb, for which he underwent revascularization surgery. After the thrombectomy, the patient presented with fever, for which prophylactic antibiotics were started while awaiting investigation into surgical and cystic complications, such as infection, which were ruled out. Once stabilized, a second transthoracic echocardiogram confirmed the severe mitral regurgitation and prolapse due to posterior mitral valve flail, suggesting long-term primary mitral valve disease as the underlying mechanism for regurgitation. The patient underwent surgical mitral valve repair, which was complicated by suture dehiscence. The severe mitral valve regurgitation was attributed to ADPKD, given the patient's family history, age, and typical cardiovascular findings and multiple renal and hepatic cysts observed. Further investigation into primary mitral valve disorders, such as soft connective tissue diseases like Marfan syndrome, was not deemed necessary.
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