Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy.

BACKGROUND: Patients with Fabry disease (FD) develop progressive left ventricular hypertrophy (LVH). In screening studies in patients with LVH, the prevalence of FD ranges from 0 to 12%. This variability is attributable to different factors like diverging inclusion and exclusion criteria, the evaluation of selected populations and suboptimal screening methods. In this study, we aimed to determine the prevalence of FD in an unselected population of everyday clinical practice presenting LVH, defined as a maximal end-diastolic septal or posterior wall thickness ≥ 13 mm, without exclusion of patients with arterial hypertension or valvular pathology, and using optimal screening methods. METHODS: In adult males, a two-tier approach was used; α-Galactosidase A (aGAL A) activity was measured using a dried bloodspot test (DBS) and diagnosis was confirmed by mutation analysis of the GLA gene. In females, mutation analysis was the primary screening tool. RESULTS: 362 men and 178 women were screened. Six patients were diagnosed with a genetic sequence alteration of the GLA gene. One man had a novel mutation, GLA p.Ala5Glu (c.44C>A), presenting as classical FD. Another man and three women had the previously described GLA p.Ala143Thr (c.427G>A) mutation, which generally presents as an attenuated phenotype. One woman had a novel sequence alteration c.639+6A>C, which appeared to be a polymorphism. All true Fabry patients had arterial hypertension (AHT), and one had hypertrophic obstructive cardiomyopathy (HOCM). CONCLUSIONS: In a group of unselected patients with LVH, we found a prevalence of Fabry disease of 0.9%. AHT or type of hypertrophy should not be an exclusion criterion for screening for FD.

Collapse of three cardiac chambers due to a pericardial effusion.

We report a case of pericardial effusion with collapse of three cardiac chambers including the left atrium, a very specific sign of tamponade always urging for quick pericardiocentesis.

Colon ischaemia and necrosis as a complication of prolonged but successful CPR.

Survival after prolonged cardiopulmonary resuscitation (CPR) is often associated with neurological and other sequelae. We describe a patient who survived prolonged cardiac arrest due to ventricular fibrillation neurologically intact but suffered colon ischaemia and necrosis in the post-resuscitation period. Subtotal colectomy was performed. We wonder whether this complication was related to the use of vasopressin.

Migration of two venous stents into the right ventricle in a patient with May-Thurner syndrome.

May-Thurner syndrome is an uncommon process in which the right common iliac artery compresses the left common iliac vein, possibly resulting in pain, severe edema of the left leg or in left iliofemoral deep vein thrombosis [May R, Thurner J. The cause of the predominately sinistral occurrence of thrombosis of the pelvic veins. Angiology 1957; 8: 419-427 .]. Corrective surgical treatment requires extensive dissection. Therefore, endovascular venous stenting is currently used in these patients [Lamont JP, Pearl GJ, Patetsios P, Warner MT, Gable DR, Garrett W, et al. Prospective evaluation of endoluminal venous stents in the treatment of the May-Thurner syndrome. Ann Vasc Surg. 2002 Jan; 16(1): 61-4. Epub 2002 Jan 17 .]. We present a case of migration of two iliacal vein stents into the right ventricle in a patient with May-Thurner syndrome.

The Eustachian valve in pulmonary embolism: rescue or perilous?

This case illustrates the Eustachian valve as an ambiguous entity. By tethering a thrombus the valve prevented a major pulmonary embolism. However, in combination with a patent foramen ovale, it directs the thrombus into the left atrium, creating a threat for systemic embolisms.