Frumkin David, Taube Eliane Tabea, Stangl Karl, Knebel Fabian
Department of Cardiology and Angiology, Campus Mitte, Charité-Universitätsmedizin Berlin, Charitéplatz 1, Berlin, Germany.
Department of Pathology, Campus Mitte, Charité-Universitätsmedizin Berlin, Charitéplatz 1, Berlin, Germany.
Eur Heart J Case Rep. 2019 Jun 1;3(2). doi: 10.1093/ehjcr/ytz051.
Aortic stenosis is a common finding in cardiac amyloidosis (CA). Younger patients often remain asymptomatic. If unrecognized, this can lead to serious complications such as heart failure. Progression of aortic stenosis can be accelerated in patients with chronic kidney disease and need for dialysis. Perioperative risk in these patients is often high due to the underlying systemic disease.
A 40-year-old Caucasian man with known AA amyloidosis, highly active Ankylosing Spondylitis and need for chronic dialysis due to end-stage chronic renal failure presented for echocardiographic routine exam without reporting any cardiac symptoms. At the last visit 4 years ago, a normal heart valve function was noted and no echocardiographic follow-up was performed in the following. Now, rapid progression with severe aortic valve and mitral valve stenosis was stated and the patient underwent combined aortic and mitral surgical valve replacement following discussion in the multidisciplinary cardiology meeting. Macroscopic examination of the valves revealed significant calcification and histological examination showed the high presence of amyloid by Congo-red staining and immunohistological staining for AA-Amyloid. Both valve prosthetic devices showed normal function as well as a normal left ventricular ejection fraction in initial post-operative transoesophageal echocardiography. After prolonged and complicated post-operative course in the intensive care unit the patient died 3 months after surgery due to intractable multiorgan failure in combined severe abdominal septic and cardiogenic shock.
Concomitant CA and chronic dialysis can accelerate the onset of severe aortic valve stenosis. Young patients, as in this case, often stay asymptomatic, perioperative risk increases with duration of chronic dialysis and severity of valve stenosis. This increases the need for regular short-term echocardiographic examinations even in clinical stable patients.
主动脉瓣狭窄是心脏淀粉样变性（CA）的常见表现。年轻患者通常无症状。若未被识别，这可能导致严重并发症，如心力衰竭。慢性肾脏病及需要透析的患者，主动脉瓣狭窄的进展可能加速。由于潜在的全身性疾病，这些患者围手术期风险通常较高。
一名40岁的白种男性，已知患有AA型淀粉样变性、高度活跃的强直性脊柱炎，因终末期慢性肾衰竭需要长期透析，前来进行超声心动图常规检查，未报告任何心脏症状。4年前上次就诊时，心脏瓣膜功能正常，此后未进行超声心动图随访。现在，报告显示主动脉瓣和二尖瓣狭窄迅速进展，在多学科心脏病会议讨论后，患者接受了主动脉瓣和二尖瓣联合人工瓣膜置换术。瓣膜的宏观检查显示有明显钙化，组织学检查通过刚果红染色和AA淀粉样蛋白免疫组织化学染色显示淀粉样蛋白大量存在。术后初期经食管超声心动图显示，两个瓣膜假体装置功能正常，左心室射血分数正常。在重症监护病房经历了漫长而复杂的术后病程后，患者在术后3个月因严重腹部感染合并心源性休克导致的顽固性多器官功能衰竭死亡。
CA合并慢性透析可加速严重主动脉瓣狭窄的发生。如本病例中的年轻患者通常无症状，围手术期风险随慢性透析时间和瓣膜狭窄严重程度增加。这增加了即使在临床稳定患者中定期进行短期超声心动图检查的必要性。
