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Annuloaortic Ectasia and Adult Polycystic Kidney
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FIGURE 2. of symbols indicate normal chest chest roentgenogram; roentgenogram; solid solid squares squares indicate indicate FIGURE 2. Pedigree Pedigree of family. family. Open Open symbols indicate normal mark no roentgenogram available. available. lobus lobus venae venae azygos. azygos. Question Question mark indicates indicates no chest chest roentgenograin 8 also also been been reported. reported.8 Our an dominant mode Our data data support support an autosomal autosomal dominant mode of of inheriinheritance. There is vertical vertical transmission, without skipping, is transmission, without skipping, tance. There
through through three three generations. generations. Three Three out out of of the the ten ten Hrst.degree first-degree
relatives show the the abnormality, abnormality, which is is not not significantly significantly relatives show which different from expected 50 The inheridifferent from the the expected 50 percent. percent. The observed observed inheritance from to an mode of tance from father father to son son excludes excludes an X-linked X-linked mode of inheritance. Although venae azygos azygos was found in inheritance. Although aa lobus lobus venae was not not found in four subjects in this four female female subjects in this this family, family, this is is not not significantly significantly different from three of different from the the observed observed three of the the six six male male relatives; relatives; expression of trait in howevet; there may however, there may be be a a reduced reduced expression of this this trait in female female carriers. carriers. It should should be borne borne in mind mind that that the of It be in the distribution distribution of individuals with lobus lobus venae venae azygos in our family might by individuals with azygos in our family might by chance mimic mimic the the supposed supposed mode of of inheritance. inheritance. Multifacchance mode Multifactotlal or or polygenic polygenic inheritance might be an alternative. alternative. torial inheritance might be an REFERENCES REFERENCES
Wrisberg HA. Observationes Observationes anatomicae de vena vena azyga duplici, 11 Wrisberg HA. anatomicae de azyga duplici, allisque huius venae varietibus. Novis Commentaris Reg Scient, aliisque huius venae varietibus. Novis Commentaris Reg Scient, Gottingen, 1778. GOttingen, 1778. 2 Radies Radics Kertes I. Die Die anatomische anatomische Lage und und die die klinische klinische 2 J,J, Kertes I. Lage Bedeutung der Lobus Lobus venae azygos azygos in moderner moderner Sicht. Z Tuberk Tuberk Bedeutung der venae in Siehl. Z
3 3
44
55 66
7 7
88
1960; 116:63-71 116:63-71 1960; Gunther D, Muller Muller C. Der Der Lobus Lobus venae venae azygos azygos und seine Gunther D, G. und seine klinische Bedeutung. R#{246} Fo 1980; 1980; 132:639-40 132:639-40 klinische Bedeutung. RO Fo Bernstein A. Diskussionsbemerkung Diskussionsbemerkung zum Vortrag Vortrag von Pinner Pinner Bernstein A. zum von Uber das das ROntgenbild Rontgenbild des L. L.v.a. Ro Fo 1930; 41:473 41:473 uber des v.a. RO Fo 1930; Teschendorf W. Lehrbuch Lehrbuch der Ro-differential R#{246}-differential Diagnostik. StuttTeschendorf W. der Diagnostik. Stuttgart, West West Germany: Cermany: Georg Thieme Thieme Verlag, 1958 gart, Georg Verlag, 1958 Underwood EA, 1kttersal Tattersal MD. The The accessory accessory lobe of the the azygos Underwood EA, MD. lobe of azygos vein: a record record of of 14 14 cases cases with with special special reference to heredity as an vein: reference to heredity as an aetiological factor and and to to pathological pathological features of the condition. aetiological factor features of the condition. Tubercle 1933; 15:1-12 15:1-12 Thbercle 1933; Pipkin SB, SB, Kegel Kegel R, R, Pipkin Pipkin AC. AC. Inheritance Inheritance of the accessory accessory lobe Pipkin ofthe lobe of the the azygos azygos vein. Hered 1952; 1952; 43:260-62 43:260-62 of vein. JJ Hered Loben E F Neuere Neuere Beohachtungen #{252}ber den Lobus azygos. Loben Beobachtungen tiber den Lobus venae venae azygos. R#{246} Fo 1931; 1931; 43:231-36 43:231-36 M Fo
Annuloaortic Ectasia and and Adult Adult Annuloaortlc Ectasia Polycystic Kidney* Polycystic Kld~
Frequent Association Association A Frequent
L. Nunez, Nu#{241}ez, M.D.; M.D.; L. L. F. F O'Connor; O’Connor, M.D.; A A G. C. Pinto, Pinto, M.D.; L. M.D.; M.D.; M. Gil-AgtUUlo, Gil-A guado, M.D.; M.D.; and and M. M. GutiefTez, Cutierrez, M.D. M. M.D. 5From the Cardiac Cardiac Surgery Department, Hospital Clinico San *From the Surgery Department, Hospital Clinico San Carlos, U University of Madrld, Madrid, Spain. Diversity of Spain. Carlos,
The association The association ofof annuloaortic annuloaortic ectasia ectasia and and polycystic polycystic 18 consecutive consecutive patients patients who who had intravenous kidney in 18 kidney in had intravenous
pyelograms was Due to associapyelograms was 22 U percent percent (4/18). (4118~ Due to this this high high association rate, rate, come some type type of work-up wor~.up to to study study tile Idclney anatomy anatomy Hon the kidney should be should be performed performed in in every every case case ofof annuloaortic annuloaortic ectasia. ectasia. For the same same reasons, reasons, patients patients with with adult adult polycystic polycystic Iddney For the kidney should have have aa careful careful cardiovascular cardiovascular evaluation. evaluation. should
or
dult polycystic disease is ~dult polycystic kidney kidney disease is commonly commonly associated associated
with some abnormalities such 1'1 with some other other abnormalities such asas cysts cysts inin the the liver, liver,
pancreas, spleen. Other known associated pancreas, and and spleen. Other well well known associated anomaanomalies are the brain lies are aneurysms aneurysms ofofthe brain arteries, arteries, diverticulosis, diverticulosis, endoendocardial fibroelastosis, muscle dystrophy, neurofibroma, cardial flbroelastosis, muscle dystrophy, neurofibroma, and and
syndactyly. 1-7 syndactyly.
Aortic annuloectasia annuloectasia has Aortic has been been related related toto Marfan’s Marfans synsyndrome, aortic coarctation, dissecting aneurysms. drome, aortic coarctation, and and dissecting aneurysms. AssociAssociation of annuloaortic ectasia and polycystic ation ofannuloaortic ectasia and polycystic kidney kidney has has rarely rarely been described togethe~ &.'9This This association association has has been been found found inin been described together.8 five five cases cases studied studied by by us. us. The The purpose purpose ofof this this article article isis toto call call attention frequent association attention to to the the frequent association ofof polycystic polycystic kidneys kidneys inin patients annuloaortic ectasia. patients with with annuloaortic ectasia. MATERIALS MATERIALS
AND METHODS METHODS
AND
From January 1975 through From January 1975 through December December 1984, 1984, 60 60 patients patients with with annuloaortic operated upon annuloaortic ectasia ectasia were were operated upon at at the the Cardiac Cardiac Surgery Surgery Service of Service of the the University University of of Madrid. Madrid. Routine cardiovascular cardiovascular studies including Routine studies including cardiac cardiac catheterization catheterization and aortography were 1983 and aortography were performed perfOrmed in in all all patients. patients. In In the the years years 1983 and 1984, 1984, 18 annuloaortic ectasia 18 and 18 cases cases of of annuloaortic ectasia were were seen. seen. In In these these 18 cases, intravenous pyelogram cases, intravenous pyelogram (WP) (IVP) was was visualized visualized atat the the end end of of cardiac catheterization. catheterization. Four cardiac Four cases cases of of adult adult polycystic polycystic kidney kidney were were seen through seen through this this two-year two-year period, period, while while inin the the eight-year eight-year period period prior to prior to routine routine IVP, ~ only only one one case case of of polycystic polycystic kidney kidney was was diagnosed out of 42 42 annuloaortic diagnosed out of annuloaortic ectasia ectasia cases. cases.
DIscussIoN DISCUSSION Aortic annuloectasia maybe Aortic annuloectasia may
be part part ofof the the Marfan Marfan syndrome syndrome
but but most most frequently, frequently, itit isis an an isolated isolated anomaly, anomaly, without without family family stigma of Marfans. Marfan’s. Although of Although the the Marfan Marfan syndrome syndrome isis considconsidstigma ered an ered an hereditary hereditary anomaly anomaly transmitted transmitted through through an an autoauto-
somal dominant dominant gene,tm 10 the the penetrance penetrance ofofsuch such aa gene gene may may be be somal gene, variable. The variable. The cause cause ofof the the vascular vascular lesion lesion seen seen inin annuloaorannuloaortic ectasia is unknown, unknown, although although aa hereditary hereditary defect defect of of the the tic ectasia is collagen tissue collagen tissue has has been been blamed. blamed. Possibly Possibly inin these these patients, patients, the continuous the continuous replacement replacement ofof collagen collagen tissue tissue isis faulty faulty inin quantity, quality, or layer quantity, quality, or both. both. Thereibre, Therefore, the the aortic aortic medial media1layer lacks aa proper collagen support rending lacks proper collagen support rending the the aortic aortic wall wall CHEST CHEST II 90 90 /I 22 II
AUGUST, AUGUST, 1986 1888
299 211
surgeon should be aware aware of the the association association and study study the surgeon should be of and the renal function function and renal renal morphology morphology in every every patient with renal and in patient with annuloaortic ectasia (Fig (Fig 1). 1). Patients Patients with annuloaortic annuloaortic ectaannuloaortic ectasia with ecta-
sia manifest manifest ahereditary a hereditary disorder disorder ofconnective of connective tissue tissue with with sfa
the potential potential for involvement involvement of other organs organs and and should should have have the for ofother aa careful of and evaluation, careful appraisal appraisal of family family history history and systemic systemic evaluation, as well well as as the the recommended recommended renal evaluation. evaluation. as renal REFERENCES REFERENCES
Granthan JJ. Polycystic Polycystic renal disease. disease. In: Early Early LE. LE, Gottschalk Gottschalk 11 Granthan JJ. renal In: CW, eds. eds. Diseases Diseases of the the kidney. kidney. Boston: Boston: Little Little Brown, 1979: CW, of Brown. 1979: 1123-26 1123-26 Kissane JM. Congenital Congenital and hereditary hereditary disease ofthe of the kidney. kidney. In: In: 22 Kissane JM. and disease Hamburger Crosnier Grunfield JP, eds. eds. Nephrology. Nephrology. New Hamburger 1.J, Crosnier J.J, Grunfield JF, New York: John John Wdey, Wiley, 1979: 887-92 887-92 York: 1979: Comfort MV, Gray Gray HIe, HK, Dahlin DC, Withsell FB. Polycystic 33 Comfurt MV, Dahlin DC. Withsell FB. Polycystic disease of of the the liver: liver: A A study study of 24 24 cases. cases. Castroenterology 1952; of Gastroenterology 1952; disease 20:60-68 20:60-68
RaIl JL. JL, Odel Odel HM. HM. Congenital Congenital polycystic kidney: review review of of the the 44 RaIl polycystic kidney: literature and data data of of 24 24 cases. cases. Am JJ Med Med Sci Sci 1949; 1949; 218:399-409 218:399-409 literature and Am Milutinovic Fialkow PJ, Rudd Rudd TG, TG, Agodoa Agodoa LY, LY, Phillips Phillips LA, 55 Milutinovic 1.J, Fialkow PJ, LA. Bryan Jl. JI. Liver Liver cysts cysts in in patients patients with autosomal dominant with autosomal dominant Bryan polycystic kidney disease. Am J Med Med 1980; 1980; 68:741-43 68:741-43 polycystic kidney disease. Am Bigelow NH. The association association of polycystic polycystic kidneys with in66 Bigelow NH. The of kidneys with intracranial aneurysm and other other related related disorders. disorders. Am JJ Med Med Sci Sci tracranial aneurysm and Am 1953; 225:485-94 225:485-94 1953;
m:
FIGURE 1. Annuloaortic Annuloaortic ectasia and IVP IVP of of the the same same patient. patient. FICURE 1. ectasia and
weaker, so allowing allowing for dilatation dilatation and dissection. dissection.11 11 weaker, so fOr and Adult kidney is with tendency Adult polycystic polycystic kidney is aa disease disease with family family tendency transmitted through aa simple autosomal gene transmitted through simple autosomal gene of of high high penepenethe is trance. trance.’ I Although Although the final final cause cause ofcyst of cyst fOrmation formation is unclear, unclear, it that collagen support ofthe it is is thought thought that the the inadequate inadequate collagen support of the renal renal tubules tubules may may be be the the explanation. explanation.’ I Adult polycystic polycystic kidney is is associated associated with cardiovascular cardiovascular Adult kidney with anomalies. Aneurysms of cerebral cerebral or visceral visceral arteries are anomalies. Aneurysms of or arteries are well known known to be be frequent frequent in this this disease. disease. 1.6 Recently, Recently, Leier to in ~e Leier well et ala al9 have have reported reported high incidence incidence of annuloaortic annuloaortic ectasia in in et aa high of ectasia patients with kidney. In 18 of patients with polycystic polycystic kidney. In their their series, series, 18 percent percent of patients patients admitted admitted in in the the hospital hospital because because of of polycystic polycystic kidney had ectasia, and ofautopsied kidney had annuloaortic annuloaortic ectasia, and 20 20 percent percent of autopsied patients with kidney had aortic patients with polycystic polycystic kidney had associated associated aortic root root anomalies. The lesions associated with anomalies. The cardiovascular cardiovascular lesions associated with APKD APKD are Varied, varied, so that that APKD APKD patients should have aa careful careful are so patients should have cardiovascular evaluation. cardiovascular evaluation. In our our experience experience with 18 18 consecutive consecutive patients with annuannuIn with patients with loaortic ectasia who who had had IVP IVP as as part part of of the the routine routine work-up loaortic ectasia work-up prior to cardiac cardiac surgery, we have have fOund found four cases cases of of adult adult prior to surgery, we fOur polycystic kidney (22 percent). percent). None of of them them had Marfans Marfan’s polycystic kidney (22 None had syndrome and The syndrome and none none of of them them had had renal renal symptoms. symptoms. The high high rate of of association association of both both diseases diseases could be be related related to some some rate of could to genetic factor. Because Because of of this this high high incidence incidence of annuloaortic ofannuloaortic genetic factor. and polycystic kidney disease, the ectasia ectasia and adult adult polycystic kidney disease, the cardiac cardiac 300 300
Sheff RT, Zuckerman Zuckerman G, Harter Harter H, Delmez Delmez Koehler R. 77 Sheff G, H, J,J, Koehler R. Diverticular disease in patients with cronical cronical renal renal failure failure due due to to Diverticular disease in patients with polycystic kidney disease. Ann Intern Intern Med 1980; 1980; 92:202-04 92:202-04 polycystic kidney disease. Ann Med Selgas R, Temes Temes JL, Sobrino Sobrino JA, Viguer Viguer JM, Oleo Oteo A. A, Snachez Snachez 88 Selgas R. JL. lA, JM, Siciia L. Enfermedad Enfermedad poliquistica renal del del adulto adulto asociada con Sicilia L. poliquistica renal asociada con una forma forma incompleta incompleta de Sindrome Sindrome de marfan. marfan. Med Clio Clin 1981; 1981; una de de Med 76:311-13 76:311-13 Leier cv, CV, Baker Baker PB, Killman Killman JW, JW, Wooley Wooley CF. CF Cardiovascular Cardiovascular 99 Leier PB, abnormalities associated with polycystic kidney disease. Ann abnormalities associated with polycystic kidney disease. Ann Intern Intern Med Med 1984; 1984; 100:683-88 100:683-88 10 NT, of aorta. 10 Kouchoukos Kouchoukos NT, Karp Karp RB. RB. Aneurysm Aneurysm of the the ascending ascending aorta. In: In: Clenn WW. WW, Baue Baue A. A. eds. eds. Thoracic Thoracic and cardiovascular cardiovascular surgery. Glenn and surgery. Norwalk: Appleton-Century Crofts, 1983:1530-40 Norwalk: Appleton-Century Crofts, 1983:1530-40 11 CD. of aorta. 11 Campbell Campbell CD. Aneurysm Aneurysm of the the ascending ascending aorta. In: In: Campbell Campbell CD, ed. ed. Aortic Aortic aneurysm: aneurysm: Surgical therapy. New York: York: Futura Futura CD, SUrgical therapy. New Publishing, 1981:19-46 Publishing, 1981:19-46
Dilated Right Ventricular Ventricular Dilated Right Cardiomyopathy: Uhl's Cardiomyopathy: Uhi’s Dlsease* Disease* Davidj Bewick, M.D.; B.M. B.M. Chandler, Chandler, M.D.; M.D.; and and David! Bewick, M.D.; TI. Montague, Montague, M.D. T.! M.D.
Uhl’s disease disease is a a rare rare disorder disorder originally described in 1952 1952 Ubi's is originally described in right ventricular dysfunction in in an an infant infant with with severe severe diffuse diffuse right ventricular dysfunction with with total total absence absence of of the the myocardium. myocardium. Ubi UhI considered considered the the disease to be be congenital congenital in origin. origin. We report report aa patient patient with disease to in We with severe dilated congestive cardiomyopathy limited to the the severe dilated congestive cardiomyopathy limited to right right ventricle ventricle but but apparently apparently developing developing in in adulthood. adulthood.
disease is a rare entity. is characterized by almost U hlscomplete U absence of the myocardium in the right hl’s disease
is a rare entity.’
I
It It is characterized
by almost
complete absence of the myocardium in the right ventricle and is is thought thought to be be congenital congenital in origin. origin. We report report ventricle and to in We
aa patient with of and patient with findings findings of severe severe and diffuse diffuse right right ventricular ventricular * From the Department of Medicine, Medicine, Division of Cardiology, Cardiology, *From the Department of Division of Dalhousie University, Halifax, Nova Canada. Dalhousie University, Halifax, Nova Scotia, Scotia, Canada.
Reprint requests: requests: Dr. Dr Montague, Montague, Room 3054 3054 ACC, ACC, Victoria General Reprint Room Victoria General Hospital, Halifax, Nova Scotia, Canada B3H 2Y9 2Y9 HOspital, Halifax, Nova Scotia, Caruula B3H
Dialed
Right
Ventricular
Cardiomopathy
(Ben4ck,
Chandler;
Montague)
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FIGURE 2. of symbols indicate normal chest chest roentgenogram; roentgenogram; solid solid squares squares indicate indicate FIGURE 2. Pedigree Pedigree of family. family. Open Open symbols indicate normal mark no roentgenogram available. available. lobus lobus venae venae azygos. azygos. Question Question mark indicates indicates no chest chest roentgenograin 8 also also been been reported. reported.8 Our an dominant mode Our data data support support an autosomal autosomal dominant mode of of inheriinheritance. There is vertical vertical transmission, without skipping, is transmission, without skipping, tance. There
through through three three generations. generations. Three Three out out of of the the ten ten Hrst.degree first-degree
relatives show the the abnormality, abnormality, which is is not not significantly significantly relatives show which different from expected 50 The inheridifferent from the the expected 50 percent. percent. The observed observed inheritance from to an mode of tance from father father to son son excludes excludes an X-linked X-linked mode of inheritance. Although venae azygos azygos was found in inheritance. Although aa lobus lobus venae was not not found in four subjects in this four female female subjects in this this family, family, this is is not not significantly significantly different from three of different from the the observed observed three of the the six six male male relatives; relatives; expression of trait in howevet; there may however, there may be be a a reduced reduced expression of this this trait in female female carriers. carriers. It should should be borne borne in mind mind that that the of It be in the distribution distribution of individuals with lobus lobus venae venae azygos in our family might by individuals with azygos in our family might by chance mimic mimic the the supposed supposed mode of of inheritance. inheritance. Multifacchance mode Multifactotlal or or polygenic polygenic inheritance might be an alternative. alternative. torial inheritance might be an REFERENCES REFERENCES
Wrisberg HA. Observationes Observationes anatomicae de vena vena azyga duplici, 11 Wrisberg HA. anatomicae de azyga duplici, allisque huius venae varietibus. Novis Commentaris Reg Scient, aliisque huius venae varietibus. Novis Commentaris Reg Scient, Gottingen, 1778. GOttingen, 1778. 2 Radies Radics Kertes I. Die Die anatomische anatomische Lage und und die die klinische klinische 2 J,J, Kertes I. Lage Bedeutung der Lobus Lobus venae azygos azygos in moderner moderner Sicht. Z Tuberk Tuberk Bedeutung der venae in Siehl. Z
3 3
44
55 66
7 7
88
1960; 116:63-71 116:63-71 1960; Gunther D, Muller Muller C. Der Der Lobus Lobus venae venae azygos azygos und seine Gunther D, G. und seine klinische Bedeutung. R#{246} Fo 1980; 1980; 132:639-40 132:639-40 klinische Bedeutung. RO Fo Bernstein A. Diskussionsbemerkung Diskussionsbemerkung zum Vortrag Vortrag von Pinner Pinner Bernstein A. zum von Uber das das ROntgenbild Rontgenbild des L. L.v.a. Ro Fo 1930; 41:473 41:473 uber des v.a. RO Fo 1930; Teschendorf W. Lehrbuch Lehrbuch der Ro-differential R#{246}-differential Diagnostik. StuttTeschendorf W. der Diagnostik. Stuttgart, West West Germany: Cermany: Georg Thieme Thieme Verlag, 1958 gart, Georg Verlag, 1958 Underwood EA, 1kttersal Tattersal MD. The The accessory accessory lobe of the the azygos Underwood EA, MD. lobe of azygos vein: a record record of of 14 14 cases cases with with special special reference to heredity as an vein: reference to heredity as an aetiological factor and and to to pathological pathological features of the condition. aetiological factor features of the condition. Tubercle 1933; 15:1-12 15:1-12 Thbercle 1933; Pipkin SB, SB, Kegel Kegel R, R, Pipkin Pipkin AC. AC. Inheritance Inheritance of the accessory accessory lobe Pipkin ofthe lobe of the the azygos azygos vein. Hered 1952; 1952; 43:260-62 43:260-62 of vein. JJ Hered Loben E F Neuere Neuere Beohachtungen #{252}ber den Lobus azygos. Loben Beobachtungen tiber den Lobus venae venae azygos. R#{246} Fo 1931; 1931; 43:231-36 43:231-36 M Fo
Annuloaortic Ectasia and and Adult Adult Annuloaortlc Ectasia Polycystic Kidney* Polycystic Kld~
Frequent Association Association A Frequent
L. Nunez, Nu#{241}ez, M.D.; M.D.; L. L. F. F O'Connor; O’Connor, M.D.; A A G. C. Pinto, Pinto, M.D.; L. M.D.; M.D.; M. Gil-AgtUUlo, Gil-A guado, M.D.; M.D.; and and M. M. GutiefTez, Cutierrez, M.D. M. M.D. 5From the Cardiac Cardiac Surgery Department, Hospital Clinico San *From the Surgery Department, Hospital Clinico San Carlos, U University of Madrld, Madrid, Spain. Diversity of Spain. Carlos,
The association The association ofof annuloaortic annuloaortic ectasia ectasia and and polycystic polycystic 18 consecutive consecutive patients patients who who had intravenous kidney in 18 kidney in had intravenous
pyelograms was Due to associapyelograms was 22 U percent percent (4/18). (4118~ Due to this this high high association rate, rate, come some type type of work-up wor~.up to to study study tile Idclney anatomy anatomy Hon the kidney should be should be performed performed in in every every case case ofof annuloaortic annuloaortic ectasia. ectasia. For the same same reasons, reasons, patients patients with with adult adult polycystic polycystic Iddney For the kidney should have have aa careful careful cardiovascular cardiovascular evaluation. evaluation. should
or
dult polycystic disease is ~dult polycystic kidney kidney disease is commonly commonly associated associated
with some abnormalities such 1'1 with some other other abnormalities such asas cysts cysts inin the the liver, liver,
pancreas, spleen. Other known associated pancreas, and and spleen. Other well well known associated anomaanomalies are the brain lies are aneurysms aneurysms ofofthe brain arteries, arteries, diverticulosis, diverticulosis, endoendocardial fibroelastosis, muscle dystrophy, neurofibroma, cardial flbroelastosis, muscle dystrophy, neurofibroma, and and
syndactyly. 1-7 syndactyly.
Aortic annuloectasia annuloectasia has Aortic has been been related related toto Marfan’s Marfans synsyndrome, aortic coarctation, dissecting aneurysms. drome, aortic coarctation, and and dissecting aneurysms. AssociAssociation of annuloaortic ectasia and polycystic ation ofannuloaortic ectasia and polycystic kidney kidney has has rarely rarely been described togethe~ &.'9This This association association has has been been found found inin been described together.8 five five cases cases studied studied by by us. us. The The purpose purpose ofof this this article article isis toto call call attention frequent association attention to to the the frequent association ofof polycystic polycystic kidneys kidneys inin patients annuloaortic ectasia. patients with with annuloaortic ectasia. MATERIALS MATERIALS
AND METHODS METHODS
AND
From January 1975 through From January 1975 through December December 1984, 1984, 60 60 patients patients with with annuloaortic operated upon annuloaortic ectasia ectasia were were operated upon at at the the Cardiac Cardiac Surgery Surgery Service of Service of the the University University of of Madrid. Madrid. Routine cardiovascular cardiovascular studies including Routine studies including cardiac cardiac catheterization catheterization and aortography were 1983 and aortography were performed perfOrmed in in all all patients. patients. In In the the years years 1983 and 1984, 1984, 18 annuloaortic ectasia 18 and 18 cases cases of of annuloaortic ectasia were were seen. seen. In In these these 18 cases, intravenous pyelogram cases, intravenous pyelogram (WP) (IVP) was was visualized visualized atat the the end end of of cardiac catheterization. catheterization. Four cardiac Four cases cases of of adult adult polycystic polycystic kidney kidney were were seen through seen through this this two-year two-year period, period, while while inin the the eight-year eight-year period period prior to prior to routine routine IVP, ~ only only one one case case of of polycystic polycystic kidney kidney was was diagnosed out of 42 42 annuloaortic diagnosed out of annuloaortic ectasia ectasia cases. cases.
DIscussIoN DISCUSSION Aortic annuloectasia maybe Aortic annuloectasia may
be part part ofof the the Marfan Marfan syndrome syndrome
but but most most frequently, frequently, itit isis an an isolated isolated anomaly, anomaly, without without family family stigma of Marfans. Marfan’s. Although of Although the the Marfan Marfan syndrome syndrome isis considconsidstigma ered an ered an hereditary hereditary anomaly anomaly transmitted transmitted through through an an autoauto-
somal dominant dominant gene,tm 10 the the penetrance penetrance ofofsuch such aa gene gene may may be be somal gene, variable. The variable. The cause cause ofof the the vascular vascular lesion lesion seen seen inin annuloaorannuloaortic ectasia is unknown, unknown, although although aa hereditary hereditary defect defect of of the the tic ectasia is collagen tissue collagen tissue has has been been blamed. blamed. Possibly Possibly inin these these patients, patients, the continuous the continuous replacement replacement ofof collagen collagen tissue tissue isis faulty faulty inin quantity, quality, or layer quantity, quality, or both. both. Thereibre, Therefore, the the aortic aortic medial media1layer lacks aa proper collagen support rending lacks proper collagen support rending the the aortic aortic wall wall CHEST CHEST II 90 90 /I 22 II
AUGUST, AUGUST, 1986 1888
299 211
surgeon should be aware aware of the the association association and study study the surgeon should be of and the renal function function and renal renal morphology morphology in every every patient with renal and in patient with annuloaortic ectasia (Fig (Fig 1). 1). Patients Patients with annuloaortic annuloaortic ectaannuloaortic ectasia with ecta-
sia manifest manifest ahereditary a hereditary disorder disorder ofconnective of connective tissue tissue with with sfa
the potential potential for involvement involvement of other organs organs and and should should have have the for ofother aa careful of and evaluation, careful appraisal appraisal of family family history history and systemic systemic evaluation, as well well as as the the recommended recommended renal evaluation. evaluation. as renal REFERENCES REFERENCES
Granthan JJ. Polycystic Polycystic renal disease. disease. In: Early Early LE. LE, Gottschalk Gottschalk 11 Granthan JJ. renal In: CW, eds. eds. Diseases Diseases of the the kidney. kidney. Boston: Boston: Little Little Brown, 1979: CW, of Brown. 1979: 1123-26 1123-26 Kissane JM. Congenital Congenital and hereditary hereditary disease ofthe of the kidney. kidney. In: In: 22 Kissane JM. and disease Hamburger Crosnier Grunfield JP, eds. eds. Nephrology. Nephrology. New Hamburger 1.J, Crosnier J.J, Grunfield JF, New York: John John Wdey, Wiley, 1979: 887-92 887-92 York: 1979: Comfort MV, Gray Gray HIe, HK, Dahlin DC, Withsell FB. Polycystic 33 Comfurt MV, Dahlin DC. Withsell FB. Polycystic disease of of the the liver: liver: A A study study of 24 24 cases. cases. Castroenterology 1952; of Gastroenterology 1952; disease 20:60-68 20:60-68
RaIl JL. JL, Odel Odel HM. HM. Congenital Congenital polycystic kidney: review review of of the the 44 RaIl polycystic kidney: literature and data data of of 24 24 cases. cases. Am JJ Med Med Sci Sci 1949; 1949; 218:399-409 218:399-409 literature and Am Milutinovic Fialkow PJ, Rudd Rudd TG, TG, Agodoa Agodoa LY, LY, Phillips Phillips LA, 55 Milutinovic 1.J, Fialkow PJ, LA. Bryan Jl. JI. Liver Liver cysts cysts in in patients patients with autosomal dominant with autosomal dominant Bryan polycystic kidney disease. Am J Med Med 1980; 1980; 68:741-43 68:741-43 polycystic kidney disease. Am Bigelow NH. The association association of polycystic polycystic kidneys with in66 Bigelow NH. The of kidneys with intracranial aneurysm and other other related related disorders. disorders. Am JJ Med Med Sci Sci tracranial aneurysm and Am 1953; 225:485-94 225:485-94 1953;
m:
FIGURE 1. Annuloaortic Annuloaortic ectasia and IVP IVP of of the the same same patient. patient. FICURE 1. ectasia and
weaker, so allowing allowing for dilatation dilatation and dissection. dissection.11 11 weaker, so fOr and Adult kidney is with tendency Adult polycystic polycystic kidney is aa disease disease with family family tendency transmitted through aa simple autosomal gene transmitted through simple autosomal gene of of high high penepenethe is trance. trance.’ I Although Although the final final cause cause ofcyst of cyst fOrmation formation is unclear, unclear, it that collagen support ofthe it is is thought thought that the the inadequate inadequate collagen support of the renal renal tubules tubules may may be be the the explanation. explanation.’ I Adult polycystic polycystic kidney is is associated associated with cardiovascular cardiovascular Adult kidney with anomalies. Aneurysms of cerebral cerebral or visceral visceral arteries are anomalies. Aneurysms of or arteries are well known known to be be frequent frequent in this this disease. disease. 1.6 Recently, Recently, Leier to in ~e Leier well et ala al9 have have reported reported high incidence incidence of annuloaortic annuloaortic ectasia in in et aa high of ectasia patients with kidney. In 18 of patients with polycystic polycystic kidney. In their their series, series, 18 percent percent of patients patients admitted admitted in in the the hospital hospital because because of of polycystic polycystic kidney had ectasia, and ofautopsied kidney had annuloaortic annuloaortic ectasia, and 20 20 percent percent of autopsied patients with kidney had aortic patients with polycystic polycystic kidney had associated associated aortic root root anomalies. The lesions associated with anomalies. The cardiovascular cardiovascular lesions associated with APKD APKD are Varied, varied, so that that APKD APKD patients should have aa careful careful are so patients should have cardiovascular evaluation. cardiovascular evaluation. In our our experience experience with 18 18 consecutive consecutive patients with annuannuIn with patients with loaortic ectasia who who had had IVP IVP as as part part of of the the routine routine work-up loaortic ectasia work-up prior to cardiac cardiac surgery, we have have fOund found four cases cases of of adult adult prior to surgery, we fOur polycystic kidney (22 percent). percent). None of of them them had Marfans Marfan’s polycystic kidney (22 None had syndrome and The syndrome and none none of of them them had had renal renal symptoms. symptoms. The high high rate of of association association of both both diseases diseases could be be related related to some some rate of could to genetic factor. Because Because of of this this high high incidence incidence of annuloaortic ofannuloaortic genetic factor. and polycystic kidney disease, the ectasia ectasia and adult adult polycystic kidney disease, the cardiac cardiac 300 300
Sheff RT, Zuckerman Zuckerman G, Harter Harter H, Delmez Delmez Koehler R. 77 Sheff G, H, J,J, Koehler R. Diverticular disease in patients with cronical cronical renal renal failure failure due due to to Diverticular disease in patients with polycystic kidney disease. Ann Intern Intern Med 1980; 1980; 92:202-04 92:202-04 polycystic kidney disease. Ann Med Selgas R, Temes Temes JL, Sobrino Sobrino JA, Viguer Viguer JM, Oleo Oteo A. A, Snachez Snachez 88 Selgas R. JL. lA, JM, Siciia L. Enfermedad Enfermedad poliquistica renal del del adulto adulto asociada con Sicilia L. poliquistica renal asociada con una forma forma incompleta incompleta de Sindrome Sindrome de marfan. marfan. Med Clio Clin 1981; 1981; una de de Med 76:311-13 76:311-13 Leier cv, CV, Baker Baker PB, Killman Killman JW, JW, Wooley Wooley CF. CF Cardiovascular Cardiovascular 99 Leier PB, abnormalities associated with polycystic kidney disease. Ann abnormalities associated with polycystic kidney disease. Ann Intern Intern Med Med 1984; 1984; 100:683-88 100:683-88 10 NT, of aorta. 10 Kouchoukos Kouchoukos NT, Karp Karp RB. RB. Aneurysm Aneurysm of the the ascending ascending aorta. In: In: Clenn WW. WW, Baue Baue A. A. eds. eds. Thoracic Thoracic and cardiovascular cardiovascular surgery. Glenn and surgery. Norwalk: Appleton-Century Crofts, 1983:1530-40 Norwalk: Appleton-Century Crofts, 1983:1530-40 11 CD. of aorta. 11 Campbell Campbell CD. Aneurysm Aneurysm of the the ascending ascending aorta. In: In: Campbell Campbell CD, ed. ed. Aortic Aortic aneurysm: aneurysm: Surgical therapy. New York: York: Futura Futura CD, SUrgical therapy. New Publishing, 1981:19-46 Publishing, 1981:19-46
Dilated Right Ventricular Ventricular Dilated Right Cardiomyopathy: Uhl's Cardiomyopathy: Uhi’s Dlsease* Disease* Davidj Bewick, M.D.; B.M. B.M. Chandler, Chandler, M.D.; M.D.; and and David! Bewick, M.D.; TI. Montague, Montague, M.D. T.! M.D.
Uhl’s disease disease is a a rare rare disorder disorder originally described in 1952 1952 Ubi's is originally described in right ventricular dysfunction in in an an infant infant with with severe severe diffuse diffuse right ventricular dysfunction with with total total absence absence of of the the myocardium. myocardium. Ubi UhI considered considered the the disease to be be congenital congenital in origin. origin. We report report aa patient patient with disease to in We with severe dilated congestive cardiomyopathy limited to the the severe dilated congestive cardiomyopathy limited to right right ventricle ventricle but but apparently apparently developing developing in in adulthood. adulthood.
disease is a rare entity. is characterized by almost U hlscomplete U absence of the myocardium in the right hl’s disease
is a rare entity.’
I
It It is characterized
by almost
complete absence of the myocardium in the right ventricle and is is thought thought to be be congenital congenital in origin. origin. We report report ventricle and to in We
aa patient with of and patient with findings findings of severe severe and diffuse diffuse right right ventricular ventricular * From the Department of Medicine, Medicine, Division of Cardiology, Cardiology, *From the Department of Division of Dalhousie University, Halifax, Nova Canada. Dalhousie University, Halifax, Nova Scotia, Scotia, Canada.
Reprint requests: requests: Dr. Dr Montague, Montague, Room 3054 3054 ACC, ACC, Victoria General Reprint Room Victoria General Hospital, Halifax, Nova Scotia, Canada B3H 2Y9 2Y9 HOspital, Halifax, Nova Scotia, Caruula B3H
Dialed
Right
Ventricular
Cardiomopathy
(Ben4ck,
Chandler;
Montague)