Prevalence of Fabry Disease in Korean Men with Left Ventricular Hypertrophy

김우식,김현수,신진호,박종천,유한욱,Toshihiro Takenaka,Chuwa Tei 대한의학회 2019 Journal of Korean medical science Vol.34 No.7

Background: Fabry disease is an X-linked recessive disorder caused by deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A). Previous studies identified many cases of Fabry disease among men with left ventricular hypertrophy (LVH). The purpose of this study was to define the frequency of Fabry disease among Korean men with LVH. Methods: In this national prospective multicenter study, we screened Fabry disease in men with LVH on echocardiography. The criterion for LVH diagnosis was a maximum LV wall thickness 13 mm or greater. We screened 988 men with LVH for plasma α-Gal A activity. In patients with low α-Gal A activity (< 3 nmol/hr/mL), we searched for mutations in the α-galactosidase gene. Results: In seven men, α-Gal A activity was low. Three had previously identified mutations; Gly328Arg, Arg301Gln, and His46Arg. Two unrelated men had the E66Q variant associated with functional polymorphism. In two patients, we did not detect GLA mutations, although α-Gal A activity was low on repeated assessment. Conclusion: We identified three patients (0.3%) with Fabry disease among unselected Korean men with LVH. Although the prevalence of Fabry disease was low in our study, early treatment of Fabry disease can result in a good prognosis. Therefore, in men with unexplained LVH, differential diagnosis of Fabry disease should be considered.

A Case of Fabry Cardiomyopathy

나종천,조욱현,최석구,유한욱,김우식,Toshihiro Takenaka,Chuwa Tei 대한심장학회 2009 Korean Circulation Journal Vol.39 No.8

In the absence of hypertension, hypertrophic cardiomyopathy is the most common cause of left ventricular hypertrophy (LVH). However, it has been reported that up to 3% of males with unexplained LVH have Fabry disease, an X-linked disorder of glycophospholipid metabolism that is due to a deficiency in the lysosomal enzyme α- galactosidase A (α-Gal A). A 44-year-old man was admitted to our hospital with palpitations. He had a history of chronic renal failure diagnosed at age 33 followed by kidney transplantation performed at our institution 2 years later, as well as long-standing hypohidrosis. His medications included prednisolone (5 mg daily), mycophenolate mofetil (1,000 mg, bid), and cyclosporine (150 mg, bid). On hospital day two, an echocardiogram demonstrated increased left ventricular wall thickness (septal wall thickness of 28 mm, posterior wall thickness of 20 mm). Diastolic dysfunction was noted on transmitral flow patterns and tissue Doppler imaging. The patient was found to have low plasma α-Gal A activity. A previously reported H46R missense mutation was detected in his α-Gal A gene and the patient was subsequently diagnosed with Fabry disease. In the absence of hypertension, hypertrophic cardiomyopathy is the most common cause of left ventricular hypertrophy (LVH). However, it has been reported that up to 3% of males with unexplained LVH have Fabry disease, an X-linked disorder of glycophospholipid metabolism that is due to a deficiency in the lysosomal enzyme α- galactosidase A (α-Gal A). A 44-year-old man was admitted to our hospital with palpitations. He had a history of chronic renal failure diagnosed at age 33 followed by kidney transplantation performed at our institution 2 years later, as well as long-standing hypohidrosis. His medications included prednisolone (5 mg daily), mycophenolate mofetil (1,000 mg, bid), and cyclosporine (150 mg, bid). On hospital day two, an echocardiogram demonstrated increased left ventricular wall thickness (septal wall thickness of 28 mm, posterior wall thickness of 20 mm). Diastolic dysfunction was noted on transmitral flow patterns and tissue Doppler imaging. The patient was found to have low plasma α-Gal A activity. A previously reported H46R missense mutation was detected in his α-Gal A gene and the patient was subsequently diagnosed with Fabry disease.

Preliminary Clinical Experience with Waon Therapy in Korea: Safety and Effect

손일석,조진만,김우식,김종진,김권삼,배종화,Chuwa Tei 한국심초음파학회 2010 Journal of Cardiovascular Imaging (J Cardiovasc Im Vol.18 No.2

Background: Waon therapy has beneficial effects on chronic heart failure (CHF), peripheral arterial disease, and other various diseases. This was to assess the safety and effect of Waon therapy by echocardiography for the first time in Korea. Methods: Ten patients with CHF were enrolled. The patients with a light gown were placed in a sitting-position in an evenly maintained 60。C dry sauna system for 15 minutes, and then after leaving the sauna, they underwent bed rest with a blanket to keep them warm for an additional 30 minutes. Waon therapy was performed once a day, 5 days a week. Results: Four of the 5 patients who had been treated for more than 2 weeks as protocol noted improvement of heart failure (HF) symptoms and decrease in left ventricular (LV) volume. There were trends in improvement of LV ejection fraction and parameters of diastolic function after the therapy although statistical significance was lack. No one complained of worsening of HF symptoms. In each session, body weight (61.8±10.2 kg vs. 61.6±10.3 kg, p=0.008) and blood pressure (systolic, 119±28 vs. 111±27 mmHg, p=0.005; diastolic, 69±12 mmHg vs. 63±10 mmHg, p=0.005) were significantly decreased, oral temperature (35.9±0.4。C vs. 37.0±0.9。C, p=0.017) was increased by 1.0。C at the end of sauna bathing, but the heart rate (71±10/min vs. 72±8/min, p=0.8) was not changed. Conclusion: We have experienced Waon therapy which was safe and well tolerated and some beneficial effects for patients with CHF. Large scale randomized study is needed to apply Waon therapy as a promising therapy in Korean HF patients.

Changes of the Carotid Artery Doppler Flow Velocity Pattern after Sublingual Nitroglycerin in Patients with Hypertension

(Jin Won Jeong),(Ock Kyu Park),(Yang Kyu Park),(Chuwa Tei),(Nobuyuki Tanaka) 대한내과학회 1998 The Korean Journal of Internal Medicine Vol.13 No.1

N/A Objective : To evaluate the applicability of carotid Doppler echography for the assessment of changes of peripheral hemodynamics in the hypertensives. Subjects : 28 hypertensives (17 males, 11 females),mean age of 64 yrs and 40 normal controls (24 males, 16 females) mean age of 49 yrs. Methods : We recorded the right common carotid arterial Doppler flow velocity (BFV) pattern and measured the peak velocities of the percussion wave (P) and late rising tidal wave (T), the ratio of the two (P/T), the time interval between the two peaks corrected by heart rate (P-Tc), systolic flow velocity integral (FVI) and carotid artery diameter (CAD) before and after 0.4 mg dose of subligual nitroglycerin (NTG). Results : 1) In hypertensives, the P wave velocity showed lower and P-Tc interval shorter than those of the normal controls at baseline. 2) After NTG, the P-Tc and P/T increased, but the T and FVI decreased significantly in both groups of subjects. 3) The P/T ratio was less significantly increased after NTG in the hypertensives than in the controls. These results suggest that NTG might have been involved in concomitant reduction and delay of the wave reflection from the peripheral vessels, preferentially in the normal subjects than in hypertensives. Concluson : The carotid Doppler echography can be useful for the evaluation of the changes of hemodynamics in the peripheral vessel such as carotid artery in hypertensive subjects.

Mechanism of Ischemic Mitral Regurgitation

Yutaka Otsuji,Masaaki Takeuchi,Ryuzo Sakata,Robert A. Levine,Chuwa Tei 한국심초음파학회 2008 Journal of Cardiovascular Imaging (J Cardiovasc Im Vol.16 No.1

Augmented leaflet tethering due to the outward displacement of the PMs with LV remodeling appears to be a basic mechanism for ischemic MR. Further, annular dilatation and LV dysfunction likely contribute to the development of MR in the presence of augmented tethering. PM dysfunction per se does not usually cause ischemic MR and may occasionally attenuate tethering and MR. The concept of PM dyssynchrony is important and further study to separate effects of PM dyssynchrony from other factors are required. Although surgical annuloplasty is often effective in reversing ischemic MR, the frequency of patients with persistent or recurrent ischemic MR after surgical ring annuloplasty even with advanced down sizing suggests the need for approaches to address tethering. Finally, leaflet tethering in patients with ischemic MR can vary within a single patient and between patients, indicating the multiple and individualized approaches may be required to correct ischemic MR in affected patients. Augmented leaflet tethering due to the outward displacement of the PMs with LV remodeling appears to be a basic mechanism for ischemic MR. Further, annular dilatation and LV dysfunction likely contribute to the development of MR in the presence of augmented tethering. PM dysfunction per se does not usually cause ischemic MR and may occasionally attenuate tethering and MR. The concept of PM dyssynchrony is important and further study to separate effects of PM dyssynchrony from other factors are required. Although surgical annuloplasty is often effective in reversing ischemic MR, the frequency of patients with persistent or recurrent ischemic MR after surgical ring annuloplasty even with advanced down sizing suggests the need for approaches to address tethering. Finally, leaflet tethering in patients with ischemic MR can vary within a single patient and between patients, indicating the multiple and individualized approaches may be required to correct ischemic MR in affected patients.