AUTORE, Camillo

CANNATA D

FRAGOLA PV

PICELLI A

SANGIORGI M.

SOMMARIVA L

English

Archivio della ricerca- Università di Roma La Sapienza

April 1988 912 Brief Communications American Heart Journal Familial idiopathic dilated cardiomyopathy Pietro Vincenzo Fragola, M.D., Camillo Autore, M.D., Antonella Picelli, M.D., Luigi Sommariva, M.D., Dario Cannata, M.D., and Mario Sangiorgi, M.D. Rome, Italy The extent to which genetic factors may influence the pathogenesis of idiopathic dilated cardiomyopathy (IDC) remains a controversial issue. There have been occasional reports of an autosomal dominant pattern of inheritance in some families, 1-3 and an X-linked inheritance has also been suggested. 3a Other investigators ~-s have found a familial aggregation of IDC ranging from 2% to 50%. However, differences in methods of assessing data (family history, questionnaires, ECG) preclude direct compari- sons of any conclusions concerning the incidence of famil- ial IDC in these reports. Forty-three patients with IDC were seen consecutively From the Department of Internal Medicine, II University of Rome. Reprint requests: Pietro Vincenzo Fragola, M.D., Via A. Torlonia 12, 00161 Rome, Italy. at our institution between January, 1985, and December, 1986. Twelve (probands: 11 male and one female, mean age 44 _+ 12 years) consented to a familial screening. The diagnosis of IDC was based on echocardiographic evidence of an enlarged left ventricle (internal diastolic diameter >57 mm or exceeding the 95% prediction interval) with poor function in the absence of clinically significant coronary artery disease or any other cardiac or systemic disease that could produce myocardial damage; in the four probands aged >150 years and in a 23-year-old patient (who subsequently underwent transplantation), results Of ventriculographic and coronary angiographic studies con- firmed the diagnosis. None had a family history of dilated cardiomyopathy. Forty-four first-degrees relatives of these 12 patients {four parents, 20 siblings, and 20 offspring) underwent clinical, echocardiographic, and ECG examinations. In seven siblings (one male and six females, mean age 56 + 7 years) a diagnosis of IDC was made; in two of them the diagnosis was confirmed by coronary angiographic and ventriculographic studies. None of them had echocardio- graphic signs of right ventricular involvement (mean right ventricular end-diastolic diameter = 18 _+ 2 ram). In another sibling, a 23-year-old boy with recurrent episodes of tachyarrhythmias, results of echocardiography showed A B Fig.  1. Cross-sectional echocardiograms. Top, Long-axis view. Bottom, Apical four-chamber view. A, Nineteen-year-old boy with IDC (propositus). B; His 23-year-old brother with right ventricular dysplasia; note particular involvement of infundibulum and apex of right ventricle. Volume 115 Number 4 Brie[ Communications 913 T a b l e  I .  Fami ly  studies: Collected da ta  from affected relatives and from relatives with uncerta in  diagnosis Case Age L VDD FS VCFm No. (yr) Sex Symptoms ECG (mm) (%) (circ/sec) Diagnosis 1" 63 F NYHA II LVH 58 21 0.81 IDC 2* 66 F NYHA II ST 60 20 0.70 IDC 3* 49 F None LQRS 53 23 0.81 IDC 4 23 M NYHA II RAD, PVB, VT 61 - -  - -  RVD 5** 53 M None LVH 56 27 0.92 IDC 6*** 60 F NYHA II LVH, LAH 63 24 - IDC 7*** 52 F NYHA II LVH 75 20 - -  IDC 8"** 50 F None Normal 55 27 - -  IDC Relatives with uncertain diagnosis 9"*** 54 F None Normal 49 27 0.96 ? 10"*** 47 F None LBBB 47 32 1.08 ? 11"* 57 F NYHA II LVH 51 33 1.13 LVH = left ventricular hypertrophy; LAH = left anterior hemiblock; LBBB = left bundle branch block; ST = abnormalities of ventricular repolarization; L Q R S  = low-amplitude QRS complexes; RAD = right-axis deviation; PVB ffi premature ventricular beats; VT = ventricular tachycardia; LVDD = leil ventricular diemtolic diameter; FS = fractional shortening; VCFm ffi mean velocity of circumferential shortening; IDC = idiopathic dilated cardiomyopathy; RVD ffi right vantricular dysplasia; ? = uncertain diagnosis; NYHA = New York Heart Association. */**/***/****Members of the same family. a severely enlarged and poorly contract ing right ventricle (RV), paradoxical  septal  motion, and mild di la ta t ion of the left  ventricle (LV) with a RV/LV end-diastol ic  diam- eter  rat io of 0.9; thus, r ight  ventr icular  dysplasia  (RVD) with left  ventr icular  involvement was diagnosed 9 (Fig. 1). His brother  (the proband)  showed mild enlargement  of the r ight  ventricle at  echocardiography (right ventr icular  end-diastol ic  d iameter  = 26 mm; RV/LV rat io = 0.40). Among the affected relatives (seven with IDC and one with RVD; Table  I), five were symptomat ic  (New York Hear t  Association class II); dis t inct  ECG abnormali t ies  were found in seven: a pa t t e rn  of left  ventr icular  hyper t ro-  phy in four, diffuse abnormali t ies  of vent r icular  repolari-  zation in one, low ampl i tude  of QRS complexes in precor- dial leads in one, and right-axis deviat ion and frequent  premature  ventr icular  beats  plus episodes of ventr icular  tachycardia  tha t  were of a left  bundle  branch block configuration in the  pa t ien t  with RVD. None had a history of recent  viral infection or chronic alcohol abuse. In  all affected females pos tpa r tum cardiomyopathy was ex- cluded. Thir ty-s ix  relatives (mean age 29 + 19 years) were judged unaffccted by IDC, bu t  two of them (both women, 54 and 57 years of age) had equivocal echocardiographic signs of myocardia l  involvement and one (a 47-year-old woman) had a left  bundle branch block (Table I). Famil ia l  d i la ted  card iomyopathy  presumably  is not  as rare as previously believed, even though the role (caus- ative or not) of genetic factors is still unclear. In  our s tudy the familial occurrence of IDC was 33% (4 of 12 families); a definite pa t t e rn  of inheri tance could not  be assessed because in each family affected members  were found in the same generation. This  propor t ion of familial  aggrega- t ion is similar to tha t  repor ted  by others who used only pat ients  with proved disease to es t imate  familial IDC 5, 8; thus, inappropr ia te  methods  of family screening would probably  account for the low incidence of familial  IDC found in large studies, s,7, 30 Fur thermore ,  clinical, ECG, and echocardiographic features of sporadic and familial cases were substant ia l ly  indist inguishable so tha t  in this s tudy a peculiar form of familial  IDC, as suggested, 1' 3 was not  identified. Moreover, a definite diagnosis is required in the three first-degree relatives with ECG or echocardio- graphic abnormali t ies  tha t  were actually of uncertain significance; it  is noteworthy tha t  left  bundle  branch block may exist many years before the  clinical onset of IDC and in these instances results of myocardia l  biopsy showed marked  pathologic changes. 1~ Finally,  the  finding of a family with both IDC and RVD raises the question of whether RVD can be considered as a separate  ent i ty  or whether,  in some cases, i t  represents  almost  a right ventr icular  di la ted cardiomyopathy~2; the  variable mor- phologic expression of the  disease in a single family remains an issue for further investigation. REFERENCES 1. Ross RS, Bulktey BH, Hutchins GM, et al. Idiopathic familial myocardiopathy in three generations: a clinical and patholog- ical study. AM HEART J 1978;96:170. 2. Voss EG, Reddy CVR, Detrano R, Virmani R, Zabriskie JB, Fotino M. Familial dilated cardiomyopathy. Am J Cardiol 1984;54:456. 3. Graber HL, Unverferth DV, Baker PB, Ryan JM, Baba N, Wooley CF. Evolution of hereditary cardiac conduction and muscle disorder: a study involving a family with six genera- tions affected. Circulation 1986;74:21. 3a. Berko BA, Swift M. X-linked dilated cardiomyopathy. N Engl J Med 1987;316:1186. 4. Ando M, Tkao A, Mori K, Sekiguehi M. The mode of inheritance in idiopathic eardiomyopathy: a preliminary report. In: Sekiguchi M, Olsen EGJ, eds. Cardiomyopathy. Baltimore: University Park Press, 1980:429. 5. Sekiguchi M, Hasegawa A, Ando M. A proposal for analyzing the familial occurrence of cardiomyopathy in the clinical situation. In: Sekiguchi M, Olsen EGJ, eds. Cardiomyopathy. Baltimore: University Park Press, 1980:445. 6. Fuster V, Gersh BJ, Giuliani ER, Tajik AJ, Brandenburg RO, Frye RL. The natural history of idiopathic dilated cardiomy- opathy. Am J Cardiol 1981;47:525. Apdl 1988 914 Brief Communications American Heart Journal 7. Bagger JP, Baandrup U, Rassmussen K, M~ller M, Vester- lund T. Cardiomyopathy in Western Denmark. Br Heart J 1984;52:327. 8. Keren A, Billingham ME, Weintraub D, Stinson EB, Popp RL. Mildly dilated congestive cardiomyopathy. Circulation 1985;72:302. 9. Manyari DE, Duff HJ, Kostuk WJ, et al. Usefulness of noninvasive studies for diagnosis of right ventricular dyspla- sia. Am J Cardiol 1986;57:1147. 10. Michels VV, Driscoll DJ, Miller Jr FA. Familial aggregation of idiopathic dilated cardiomyopathy. Am J Cardiol 1985; 55:1222. 11. Kuhn H, Breithardt G, Knieriem HJ, et at:Prognosis and possible presymptomatic manifestations of congestive cardio- myopathy. Postgrad Med J 1978;54:451. 12. Fitchett DH, Sugre DD, MacArthur CG, Oakley CM. Right ventricular dilated cardiomyopathy. Br Heart J 1984;51:25. Ventricular tachycardia and sudden death in myotonic dystrophy Shuichi Hiromasa, M.D., Takayuki Ikeda, M.D., Kouji Kubota, M.D., Nobu Hattori, M.D., Humberto Coto, M.D.,* Claudio Maldonado, M.S.,* and Joel Kupersmith, M.D.* Ishikawa, Japan; and Louisville, Ky. Myotonic dystrophy is an autosomal dominant neuromus- cular disease characterized by rigidity and degeneration of the skeletal muscle, cataract formation, gonadal atrophy, frontal baldness, ~ and mental impairment. Cardiac involvement in this disease is well known. Since such cardiac lesions tend to involve the specialized conducting system, development of abnormal impulse formation and conduction is frequent. 13 Previously, we reported 4 a family afflicted with myoton- ic dystrophy that showed diffuse cardiac conduction dis- turbances. One member of this family (case No. 1) with From the First Department of Internal Medicine, Kanazawa University School of Medicine; and *Cardiovascular Division, University of Louisville School of Medicine. Reprint requests: Shuichi Hiromasa, M.D., Cardiovascular Division, Uni- versity of Louisville, School of Medicine, 550 S. Jackson St., Louisville, KY 40202. clinical features of muscular dystrophy was found to have multiple episodes of spontaneous sustained ventricular tachycardia (VT). This patient underwent exhaustive right and left ventricular mapping and electrophysiologic studies. 4 This VT was easily reproduced and terminated by right ventricular programmed electrical stimulation, suggesting a reentry mechanism. The resultant QRS con- figuration was similar to that seen during spontaneous attacks. Also, mapping performed in both Ventricles sug- gested that this tachycardia arose from the right ventricle. Furthermore, His bundle ECG revealed HV interval pro- longation. This finding indicated that the first-degree atrioventricular (AV) block observed on the patient's ECG resulted from depressed His-Purkinje conduction. An echocardiogram revealed mitral valve prolapse (MVP). However, during multiple physical examinations, no clicks or murmurs were detected during careful auscultation performed by several examiners, indicating that the echo- cardiographic diagnosis of MVP was clinically irrelevant. Usually, in patients with MVP and VT, this arrhythmia originates presumably as a result of increased tension of the papillary muscle secondary to the prolapsing valve, and not from the right ventricle, as is the case with our patient. Therefore, the association in this patient of VT and MVP is very unlikely. Other studies, including right and left heart catheterizations and endomyocardial biop- sy, showed no evidence of cardiomyopathy; also an exer- cise stress test with thallium imaging failed to demon- strate perfusion abnormalities, ischemic ST-T changes, or exercise-induced ventricular arrhythmias. Since our initial investigation, 4 we followed this patient for 30 months. Despite multiple pharmacologic interven- tions including lidocaine, quinidine, procainamide, diso- pyramide, mexiletine, diltiazem, and propranolol, he con- tinued to have short runs of VT as well as episodes of spontaneous sustained VT, documented by serial ambula- tory continuous ECG recordings (Fig. 1). This ambulatory continuous ECG recording also showed occasional epi- sodes of possible atrial tachycardia at 120 to 130 bpm. While this finding might suggest the possibility of an underlying sick sinus syndrome, subsequent ECGs and Holter monitors obtained during the patient's long-term follow-up failed to demonstrate the presence of such condition. Serial standard ECGs did not show any signifi- cant changes suggesting progression of intracardiac con- Fig. 1. Ambulatory continuous ECG recording obtained during follow-up and showing VT and a possible atrial tachycardia with an approximate atrial rate of 130 bpm. 

Familial idiopathic dilated cardiomyopahty

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Familial idiopathic dilated cardiomyopahty

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