sole dermatoglyphics of patients with klinefelter's syndrome (47,xxy)

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case report july . august 2006 . supplement 1 37 www.lejacq.com ID:5771 Stefan Toggweiler, MD; Michel Zuber, MD; Paul Erne, MD From the Division of Cardiology, Kantonsspital Luzern, Lucerne, Switzerland Address for correspondence: Paul Erne, MD, Head of Division of Cardiology, Kantonsspital Luzern, 6004 Luzern, Switzerland E-mail: [email protected] C ardiac resynchronization therapy (CRT) improves hemodynamic and echocardiographic parameters, symptoms, quality of life, morbidity, and mortality in patients with medi- cally refractory congestive heart fail- ure associated with a prolonged QRS duration. 1–5 To fully exhaust the ben- efits of CRT, it is important to optimize atrioventricular (AV) and interven- tricular (VV) conduction delays to achieve optimal mechanical synchro- nization of the heart chambers. 6 This has mainly been done using param- eters obtained by Doppler echocar- diography, but also by measuring left ventricular (LV) dP/dt max . 7–11 However, an experienced echocardiographer and a stable patient are needed to get reproducible results. These exami- nations are time-consuming, and no standard parameter for optimization is yet available. For these and cost reasons, even today, only a minority of CRT devices are optimized after implantation. Acoustic cardiography (AUDICOR, Inovise Medical Inc., Portland, OR) has been developed to measure time intervals very precisely and with reproducible results. Due to the fact that the strength of the S 3 and the electromechanical activation time (EMAT) correlate well with LV function, we used acoustic cardiog- raphy for optimizing the VV and AV delays in a patient with a biventricular pacemaker. 12,13 Five weeks after this optimization, we also investigated the effects on the Doppler echocardio- graphic parameters, B-type natriuretic protein (BNP) value, and the func- tional capacity of this patient. Case Report A 67-year-old man presented with New York Heart Association (NYHA) class II dyspnea and a markedly reduced ejection fraction (EF) of 28% follow- ing a prior aortic valve replacement in 2001, at which time his EF was nor- mal. The electrocardiogram showed a left bundle branch block morphol- ogy and a QRS duration of 180 mil- liseconds. Doppler echocardiography revealed a VV contraction delay of 40 milliseconds, measured as the dif- ference between the onset of the pul- monary ejection wave and the aortic ejection wave, and an intraventricular septal-posterolateral delay of 200 mil- liseconds measured with displacement imaging and autotracking (Aplio, Toshiba Medical Systems, New York, NY). There was eccentric LV hyper- trophy with an end-diastolic diameter of 67 mm (normal <60 mm) and an LV mass index of 212 g/m 2 (normal <134 g/m 2 ). The patient had known arterial hypertension, which was medi- cally well controlled. No malignant arrhythmias were induced during elec- trophysiology studies, and a biven- tricular pacemaker device (Stratos LV, BIOTRONIK, Inc., Berlin, Germany) was implanted. The coronary sinus was cannulated using an electrophysi- ology catheter, and the optimal pos- terolateral vein could be identified and cannulated. Postimplantation, medical therapy consisted of an angio- tensin-converting enzyme inhibi- tor, a β blocker, spironolactone, loop diuretics, digoxin, and amiodarone. The patient was orally anticoagulated due to reduced LV function. Medical therapy was not changed during the observation period. There were no clinical signs of congestive heart fail- ure postimplantation. The patient was enrolled in our CRT optimization program 5 weeks after the implantation. The AV delay was set at 120 milliseconds, and simul- taneous ventricular pacing was pro- grammed to a baseline VV setting. Rate-dependent shortening of the AV interval was turned off because the benefit of this feature has been questioned recently in biventricular pacemakers. 14 During optimization and the follow-up period, the patient was in sinus rhythm. Sitting blood pressure was 93/70 mm Hg. Cardiac examination showed no clinical signs of congestive heart failure. After the baseline programming, the patient was sent home for 6 weeks. Eleven weeks postimplantation, the patient’s CRT device was optimized using acous- tic cardiography (AUDICOR tech- nology). The acoustic cardiography data were obtained using AUDICOR sensors attached to the V 3 and V 4 positions. For each CRT AV and VV C ASE R EPORT Optimization of Atrioventricular and Interventricular Delay With Acoustic Cardiography in Biventricular Pacing Congestive Heart Failure® (ISSN 1527-5299) is published bimonthly (Feb., April, June, Aug., Oct., Dec.) by Le Jacq, Three Parklands Drive, Darien, CT 06820-3652. Copyright ©2006 by Le Jacq. All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopy, recording, or any information storage and retrieval system, without permission in writing from the publishers. The opinions and ideas expressed in Congestive Heart Failure® do not necessarily reflect those of the Editor and Publisher. For copies in excess of 25 or for commercial purposes, please contact Sarah Howell at [email protected] or 203.656.1711 x106. ®

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Page 1: SOLE DERMATOGLYPHICS OF PATIENTS WITH KLINEFELTER'S SYNDROME (47,XXY)

J . ment. Defic. Res. (1979) 23, 85 85

SOLE DERMATOGLYPHICS OF PATIENTS WITHKLINEFELTER'S SYNDROME ( 47,XXY )

Y. KOMATZ,* T. KIRIYAMA and O. YOSHIDA

Department of Urology, Faculty of Medicine, Kyoto University, Kyoto, Japan

There have been several studies of sole prints of patients with XXY Klinefelter'ssyndrome (Holt, 1963, 1968; Cushman and Sol tan, 1969; Penrose and Loesch, 1970;Saldana-Garcia, 1975). In the plantar patterns of this syndrome, no characteristicfindings, such as large whorls, large distal loops in the hallucal area and absence oftriradius p that have been reported in Turner's syndrome (Holt, 1968) have beennoted. On the other hand, the frequencies of several plantar pattern elements in theXXY syndrome were reported to be different from those of normal male and femalesubjects (Penrose and Loesch, 1970; Saldana-Garcia, 1975). In this paper, soleprints findings of eighty cases of Klinefelter's syndrome (XXY) will be studied andcompared with other reports in order to clarify the characteristics of this sex chromo-somal aberration.

MATERIALS AND METHODSThe subjects of this study were eighty Japanese patients with Klinefelter's

syndrome, seen at the Infertility Clinic of the Department of Urology, Kyoto Uni-versity Hospital. In all cases, the karyotype was determined by peripheral bloodculture to be 47,XXY. Of these, we have already reported on the dermatoglyphictraits, other than sole prints, of sixty-five (Komatz and Yoshida, 1977, 1978). Thecontrols consisted of a hundred males and a hundred females, chosen from urologicalpatients who were admitted to this hospital for problems not related to a congenitalcondition (fifty-five males, forty-nine females), or their spouses without phenotypicanomalies (forty-five males, fifty-one females). We have eliminated individuals withany known consanguineous ties with a subject already studied. They are all Japaneseand inhabitants of the Kyoto region. The ages of the patients varied from nineteento forty-six, those of the control males from five to eighty-two and those of the controlfemales from eight to sixty-six. Sole prints were collected by using high quality whitepaper and black ink. The prints were analysed by the method of Penrose and Loesch(1969), and the frequency of appearance of loops and triradii in the patient andcontrol groups compared. Additionally, hallucal patterns were classified into sevenmain types, whorl (W), loop distal (L''), loop tibial (L'), loop fibular (L^), archtibial (A'), arch fibular (A )̂ and arch proximal (AP), and the frequency of hallucalpattern types in the patients and controls was compared. The plantar pattern intensitywas determined by the number of loops found per foot (Penrose and Loesch, 1970).

^Yosuke Komatz, M.D., Department of Urology, Faculty of Medicine, Kyoto University,Sakyo-ku, Kyoto, 606 Japan

Received 30th October, 1978

Page 2: SOLE DERMATOGLYPHICS OF PATIENTS WITH KLINEFELTER'S SYNDROME (47,XXY)

Y. KOMATZ et al. 89

fact that distal loops (II) in the second interdigitai area and tibial loops (V) in thehypothenar area were found m.ore frequently in XXY patients and no significantdecrease was observed in the rate at which loops were found in the other plantarareas. Penrose and Loesch (1970), on the other hand, have stated that patternintensity significantly decreases in patients with Klinefelter's syndrome. This wasnot so in our sample.

It has been reported that triradius p is found most frequently among patientswith some sex chromosome aberrations, such as XXY, XYY or XXX (Saidafia-Garcia, 1973, 1975). We also found it higher in XXY cases than among normalmales and females, though not significantly so for males. Penrose and Loesch (1970)reported that triradius p tends to decrease in XXY cases, but again, our findingsdid not verify this.

It has been reported that the frequency of interdigitai triradii (z, z', z") declineswith XXY (Penrose and Loesch, 1970; Saidafia-Garcia, 1975). Among our series,it was low among both patient and control groups, thus failing to support thisopinion.

We believe that the following three traits can be cited as statistically significantcharacteristics of sole dermatoglyphics in patients with Klinefelter's syndrome inJapanese subjects: (1) the distal loops in the hallucal area are often small ones with alow ridge count; (2) pattern intensity is higher, and (3) triradius j!) increases.

SUMMARYWe have reported the dermatoglyphic findings on the soles of eighty Japanese

Klinefelter's syndrome patients (47,XXY). As compared with normal Japanese malesand females, three statistically different traits were observed: (1) Distal loops in thehallucal area are smaller, (2) pattern intensity is higher, and (3) the frequency oftriradius p is elevated.

ACKNOWLEDGEMENTSThe authors are greatly indebted to Dr T. Abe, Department of Preventive

Medicine, Kyoto Prefectural University of Medicine, who kindly provided theresults of cytogenetical analysis.

REFERENCESCUSHMAN, C . J. and SOLTAN, H . C . (1969) Dermatoglyphics in Klinefelter's syndrome

(47, XXY). Hum. Hered. 19, 641.HOLT, S. B . (1963) Dermatoglyphic anomalies associated with abnormal sex chromosomes.

Proc. XI Int. Congr. Genet. 1, 315.

HOLT, S. B. (1968) The Genetics of Dermal Ridges. Charles G. Thomas.KOMATZ, Y. and YOSHIDA, O . (1977) Terminations of palmar main lines and main-line indices

in 47,XXY Klinefelter's syndrome. Jap. J. Human Genet. 22, 281.KOMATZ, Y . and YOSHIDA, O . (1978) Palmar dermatoglyphics of the patients with Klinefelter's

syndrome (47,XXY). Jap. J. Human Genet. 23, 245.PENROSE, L . S. and LOESCH. D . (1969) Dermatoglyphic sole patterns: A new attempt at

classification. Hum. Biol. 41, 129.

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90 SOLE DERMATOGLYPHICS OF 47,XXY PATIENTS

PENROSE, L . S. and. LOESCH, D . (1970) Comparative study of sole patterns in chromosomalabnormalities. J. ment. Defic. Res. 14, 129.

SALDANA-GARCIA, P. (1973) A dermatoglyphic study of sixty-four XYY males. Ann. Hum.Genet. 37, 107.

SALDANA-GARCIA, P. (1975) Dermatoglyphic findings in 54 triple-X females and a review ofsome general principles applying to the soles in sex chromosome aneuploidy. J. med.Genet. 12, 185.

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