JCDR Clinical Case Report Based Study A case of cyanotic L-transposition with complete heart block in an adult female who had three in-hospital normal deliveries Binu M. G., Mridul R. Nair1, Vinodini C.2 Department of Medicine, 1Final MBBS, Sree Mookambika Institute of Medical Sciences, Kulasekharam, Kanyakumari, 2Medical Officer, GH Arumanai, India Address for correspondence: Dr. Binu M. G., Department of Medicine, Sree Mookambika Institute of Medical Sciences, Kulasekharam, Kanyakumari – 629 161, India. E-mail: [email protected] ABSTRACT A 48-year-old female presented with complete heart block. On evaluation, it was diagnosed as a congenital cyanotic heart disease, namely, L-transposition of great arteries (L-TGA) with Fallot’s physiology. She led the normal life of a manual laborer and had three hospital deliveries and yet escaped detection of her cardiac condition. Key words: Complete heart block, congenitally corrected transposition of great arteries, ventricular septal defect INTRODUCTION heart block. Major issues related to management revolve around the status of the systemic RV, which can develop Congenitally corrected transposition of the great arteries dysfunction with increasing age, and tricuspid regurgitation, (CCTGA) is a rare condition in which systemic venous which can increase in severity with age and contribute to blood returns to normally positioned atria. However, ventricular dysfunction. One emerging treatment is the the atria are connected to the opposite ventricle [right double-switch operation. In patients with no pulmonary atrium to left ventricle (LV) and left atrium to right obstruction, it is possible to switch the systemic and ventricle (RV)], the so-called atrioventricular (AV) pulmonary venous return using an atrial baffle procedure discordance. In addition, the ventricles are inverted followed by an arterial switch procedure. This results in the (right to left change in position) and are connected to anatomical LV now functioning as the systemic ventricle. In the opposite great artery [LV to pulmonary artery (PA) those patients with associated pulmonary obstruction and and RV to aorta], thus forming ventricular–arterial (VA) a VSD, another type of double switch can be performed discordance. The aorta is anterior and to the left of the PA, in which the LV is tunneled through the VSD to the aorta, L-transposed. AV discordance plus VA discordance results the RV is connected to the PA with a homograft or other in normal blood flow (i.e. congenitally corrected). The conduit, and the atrial baffle procedure is performed. RV with the tricuspid valve (TV) is the systemic ventricle. The most difficult challenge is choosing the patient who Common associated conditions are ventricular septal is a candidate for the double-switch operation and the defects (VSDs)[1-3] pulmonary stenosis, and congenital timing of that operation, or the timing of a more classical operation for associated defects. Access this article online Quick Response Code: Website: www.jcdronline.com CASE REPORT A 48-year-old female presented to the Medical OPD with DOI: 10.4103/0975-3583.89812 complaints of giddiness, chest pain and breathlessness. She had history of such problems from childhood, except Journal of Cardiovascular Disease Research Vol. 2 / No 4 247 Binu, et al.: Cyanotic L-TGA giddiness. Chest pain was squeezing in type, retrosternal location, aggravated by doing work and radiated to both hands and lower jaw. Dyspnea progressed from grade I to grade III New York Heart Association grading .[2] Giddiness was of recent onset, on and off with one episode of syncope. There was history of cyanosis with varying intensity noted from childhood. She gave history of working as a headload worker until the age of 30 years without much difficulty, but had to stop thereafter due to increasing chest pain and dyspnea. She had three uncomplicated normal deliveries at a local government hospital (heart disease not diagnosed then). On examination, the patient was found to have central cyanosis and digital clubbing. Pulse rate was 36/min, Figure 1: Echo: A-V discordance regular. Blood pressure and respiratory rates were normal. Jugular venous pulse showed the presence of canon waves. Auscultation revealed RVS and an ejection systolic murmur 3 in pulmonary area, of grade IV intensity. Investigations ECG showed 3rd degree heart block with right ventricular hypertrophy (RVH) and left ventricular hypertrophy (LVH). Repeat ECG showed sinus rhythm with biventricular hypertrophy. Chest X-ray showed cardiomegaly with biventricular enlargement. Echocardiography showed: Figure 2: Echo: V-A discordance • Situs solitus, levocardia and L-loop ventricles; • AV and VA discordance; [Figures 1 and 2] • Large inlet VSD with bidirectional shunt; [Figure 3] • PA from right-sided LV; • PA to left with side by side great vessels; • Aorta from left-sided RV; • Pulmonary valve thickened and calcified with severe pulmonary stenosis (PS) and • Mild right AV valve regurgitation. Diagnosis Congenital cyanotic heart disease, L-transposition of great arteries (L-TGA), VSD with severe PS and intermittent complete heart block were detected. Figure 3: Echo showing VSD complete heart block, she was put on medical management In other terms, there was Fallot’s physiology. with diuretics, orceprenalin and supportives. Management DISCUSSION Since the patient was not willing for corrective or any other type of interventions (including pacemaker) and she was This patient remained undetected with congenital cyanotic doing relatively well except for occasional giddiness due to heart disease well into adulthood and also had three 248 Journal of Cardiovascular Disease Research Vol. 2 / No 4 Binu, et al.: Cyanotic L-TGA successful uncomplicated normal deliveries in hospital. A • Subarterial VSDs, roofed by the semilunar valves, patient with cyanotic congenital heart disease with Fallot’s have been described in Asian patients but are physiology, delivering normally thrice, evading detection of uncommon in the Western world. the condition, though the deliveries occurred in hospital is • The resulting left-to-right shunt is usually large. a rare occurrence! She used to work with a road contractor • Conduction system abnormalities: The sinus node and was doing heavy manual labor though she occasionally is positioned normally but the anatomical situation had symptoms and cyanosis. precludes normal conduction because the AV conduction tissue is profoundly abnormal. The Few reports of pregnancy are available about women with normal AV node cannot give rise to the penetrating L-TGA.[4] In the present series, pregnancy was well tolerated AV bundle. An anomalous second AV node is the in all, but two women. One woman required AV valve functional AV conduction system in many patients, replacement in the early postpartum period. The second generally located beneath the opening of the right had congestive heart failure during three pregnancies and atrial appendage at the lateral margin between the toxemia, endocarditis and a myocardial infarction during pulmonic valve and the mitral valve; thus, the node three other pregnancies. L-TGA does not inhibit fertility in has an anterior position and gives rise to the AV women before or after surgical repair. Successful pregnancy bundle immediately underneath the right anterior can be achieved in most women, although there is increased pulmonic valve leaflet. This accessory node is risk of maternal cardiovascular morbidity and fetal loss. not always present and may be hypoplastic or Data regarding pregnancy in cyanotic L-TGA are lacking. nonfunctional. Natural history • Complete heart block occurs in 30% of patients and may be present at birth or develop at a rate The initial physiology of isolated L-TGA is normal. It is of 2% per year.[9] Other conduction disturbances the potential late failure of the RV and TV, both of which described include sick sinus syndrome, atrial flutter, face the higher-resistance systemic arterial circuit that re-entrant AV tachycardia due to an accessory most frequently brings these patients to attention as young pathway along the TV annulus, and ventricular adults. In this group, progressive dilation of the RV, as the tachycardia. myocardium fails, typically leads to enlargement of the TV annulus and worsening of the tricuspid regurgitation. The • Left ventricular outflow tract obstruction: Left volume load of the tricuspid regurgitation, in turn, worsens ventricular outflow tract obstruction (pulmonary RV chamber dilation, which further stretches the tricuspid outflow tract) occurs in 30–50% of patients and is annulus. Longitudinal studies have described outcomes in typically associated with a ventricular septal defect.[10] patients with and without surgical intervention.[5,6] Freedom reported that of the patients with pulmonary outflow tract obstruction and a VSD, approximately one third have TV deformities. Complete heart block is a frequent accompanying or presenting symptom in this population owing to the Mortality/morbidity associated abnormal development of the conduction system.[7] Other associations include an Ebstein like • Ten-year survival rate ranges from 64 to 83% from displacement of the left-sided TV (common), which the time of diagnosis and is dependent on associated may contribute to TV dysfunction, and ventricular anomalies.[6] noncompaction (rare), which may contribute to ventricular • A rare patient without associated cardiac anomalies dysfunction.[8] may have a much more benign course, and literature • VSD: This is the most common associated cardiac documents many examples of these patients being malformation, with an incidence of 60–70% in diagnosed in the sixth and seventh decades of life.[6] clinical series and nearly 80% in reviews of autopsied • A median age at death of 40 years has been reported cases. in both patients who have undergone operation and • The defect is usually large and perimembranous in those who have not. location but can occur in any position along the ventricular septum. REFERENCES • The perimembranous VSD tends to be subpulmonary. 1. Hurst's. The Heart. 13th ed. Fuster V, Walsh R, Harrington R, editors. New Journal of Cardiovascular Disease Research Vol. 2 / No 4 249 Binu, et al.: Cyanotic L-TGA York: Mc Graw Hill; 2007. 8. Sharland G, Tingay R, Jones A, Simpson J. Atrioventricular and 2. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. ventriculoarterial discordance (congenitally corrected transposition of the 9th ed. Bonow RO, Mann DL, Zipes DP, Libby P, editors. Netherlands: great arteries): Echocardiographic features, associations, and outcome in Elsevier; 2011. 34 fetuses. Heart 2005;91:1453-8. 9. Friedberg DZ, Nadas AS. Clinical profile of patients with congenital 3. Clinical Recognition of Congenital Heart Disease. 3rd ed. Perloff JK, editor. corrected transposition of the great arteries: A study of 60 cases. N Engl Philadelphia: Saunders; 2003. J Med 1970;282:1053-9. 4. Connolly HM, Grogan M, Warnes CA. Pregnancy among women with 10. Lundstrom U, Bull C, Wyse RK, Somerville J. The natural and “unnatural” congenitally corrected transposition of great arteries. J Am Coll Cardiol history of congenitally corrected transposition. Am J Cardiol 1990;65:1222-9. 1999;33:1692-5. 5. Prieto LR, Hordof AJ, Secic M, Rosenbaum MS, Gersony WM. Progressive tricuspid valve disease in patients with congenitally corrected transposition How to cite this article: Binu MG, Nair MR, Vinodini C. A case of of the great arteries. Circulation 1998;98:997-1005. cyanotic L-transposition with complete heart block in an adult female 6. Graham TP Jr, Bernard YD, Mellen BG, Celermajer D, Baumgartner H, who had three in-hospital normal deliveries. J Cardiovasc Dis Res Cetta F, et al. Long-term outcome in congenitally corrected transposition 2011;2:247-50. of the great arteries: A multiinstitutional study. J Am Coll Cardiol Source of Support: Nil, Conflict of Interest: This patient with a 2000;36:255-61. complex congenital heart disease had a near normal life of a manual 7. Daliento L, Corrado D, Buja G, John N, Nava A, Thiene G. Rhythm and laborer. She had three normal deliveries in hospital (and several conduction disturbances in isolated, congenitally corrected transposition other hospital visits), yet evaded diagnosis of her cardiac problem. of the great arteries. Am J Cardiol 1986;58:314-8. Author Institution Mapping (AIM) Map will be added once issue gets online*** Please note that not all the institutions may get mapped due to non-availability of the requisite information in the Google Map. For AIM of other issues, please check the Archives/Back Issues page on the journal’s website. 250 Journal of Cardiovascular Disease Research Vol. 2 / No 4