Teraguchi Hiroyuki, Takenaka Toshihiro, Yoshida Aichi, Taguchi Syuhei, Ninomiya Kenjiro, Yoshida Hiroki, Horinouchi Michiko, Yonezawa Suguru, Nakao Shoichiro, Minagoe Shinichi, Tei Shuwa
J Cardiol. 2004 Feb;43(2):98-9.
Fabry disease is an X-linked recessive disorder resulting from a deficiency of alpha-galactosidase A with multi-organ dysfunction. Patients with manifestations limited to the heart have been reported recently as a disease variant. We have previously reported a 3% prevalence of this cardiac variant in men with left ventricular hypertrophy, which we designated cardiac Fabry disease. The purposes of the current study were to evaluate the end-stage cardiac manifestations and autopsy findings in patients with cardiac Fabry disease.
We evaluated five autopsied male patients with cardiac Fabry disease. One died of ventricular fibrillation and four of heart failure. Electrocardiograms obtained at hospitalization revealed the presence of conduction abnormalities and nonsustained ventricular tachycardia. Echocardiograms and autopsy findings showed the presence of left ventricular hypertrophy in all patients. Localized thinning of the basal posterior wall of the left ventricle was detected in four patients who died of heart failure. All patients had severe left ventricular dysfunction. Histologically, myocardial cells showed glycosphingolipid accumulation in all of the patients but no accumulation was observed in other organs or in systemic vascular endothelial cells.
Severe left ventricular dysfunction, conduction disturbances and ventricular arrhythmias occur in end-stage cardiac Fabry patients. Furthermore, left ventricular hypertrophy commonly associated with thinning of the base of the left ventricular posterior wall is present. The accumulation of glycosphingolipids can be observed in myocardial cells but not in other organs.
法布里病是一种X连锁隐性疾病，由α-半乳糖苷酶A缺乏导致多器官功能障碍。最近有报道称，有一种疾病变体，其表现仅限于心脏。我们之前报道过，在左心室肥厚男性中，这种心脏变体的患病率为3%，我们将其命名为心脏型法布里病。本研究的目的是评估心脏型法布里病患者的终末期心脏表现及尸检结果。
我们评估了5例经尸检确诊的心脏型法布里病男性患者。1例死于心室颤动，4例死于心力衰竭。住院时的心电图显示存在传导异常和非持续性室性心动过速。超声心动图和尸检结果显示，所有患者均有左心室肥厚。4例死于心力衰竭的患者检测到左心室基底后壁局部变薄。所有患者均有严重的左心室功能障碍。组织学检查显示，所有患者的心肌细胞均有糖鞘脂蓄积，但在其他器官或全身血管内皮细胞中未观察到蓄积。
心脏型法布里病终末期患者会出现严重的左心室功能障碍、传导紊乱和室性心律失常。此外，常伴有左心室后壁基底变薄的左心室肥厚也存在。糖鞘脂蓄积可在心肌细胞中观察到，但在其他器官中未观察到。
