Unusual presentation of congenitally corrected transposition of great arteries (CCTGAs) in a middle aged male
Correspondence Address: Source of Support: None, Conflict of Interest: None DOI: 10.4103/0975-2870.148873
Congenitally corrected transposition of great arteries (CCTGAs) is a rare congenital heart disease. The literature review reveals that asymptomatic CCTGA is even rarer in elderly male. We report a case of a 54-year-old male, with no past significant medical history, who presented with angina type of chest pain. On examination, he had bradycardia, lower limb hypertension and grade 3 pansystolic murmur in the mitral area. Investigations revealed complete heart block in electrocardiograph, chest radiograph showed cardiomegaly, transthoracic echocardiography showed an apically located systemic atrio-ventricular (AV) valve, parallel arrangement of the great arteries, AV and ventriculoarterial discordance, hypertrophied right ventricle and significant systemic AV valve insufficiency with ejection fraction of 40%. These findings were consistent with congenitally corrected transposition of the great arteries with systemic AV valve insufficiency. Holter monitoring showed complete heart block, no significant pauses and one event of ill-sustained ventricular tachycardia (ventricular triplet) with the patient being asymptomatic during the study period. Need of internal cardioverter-defibrillator or pacemaker was deferred. The remaining hospital stay was uneventful. At the time of discharge, the patient was stable. Keywords: Congenitally corrected transposition of great arteries (CCTGAs), complete heart block (CHB), internal cardioverter-defibrillator (ICD)
There have been several reported cases of congenitally corrected transposition of great arteries (CCTGAs). [1],[2] CCTGA was first described by Von Rokitansky in 1895. [3] Published studies, however, have described only a few cases of asymptomatic CCTGA in an elderly male. CCTGA has a prevalence of 0.4-0.6% of all congenital heart disease cases. [1] Complete heart block (CHB) is known to occur in 30% of patients. [1] We describe an elderly male with asymptomatic CCTGA who presented with angina-like chest pain, and discuss the clinical and radiological findings and prognosis of CCTGA.
A 54-year-old man with no past medical history presented with complaints of chest pain since 10 days, which were aggravated since the past 4 days. It was a retrosternal, non-radiating, pricking type of pain. The chest pain worsened on exertion and relieved on taking rest. There was no history of breathlessness, palpitations, cyanotic spells, syncope, cough, fever, vomiting or dyspepsia. Past, family and personal histories were not contributory. On examination, his pulse rate was 48/min and regular, all peripheral pulses were felt and his blood pressure was 140/90 mmHg in both upper limbs and 160/100 mmHg in both lower limbs. There was no cyanosis, clubbing or pedal edema. Systemic examination revealed the following findings: Heaving apical impulse in the left 6 th intercostal space, muffled S1, S2, loud P2 and grade 3 pan systolic murmur in mitral area. Investigations revealed normal blood cell count, electrocardiograph showed CHB with ventricular rate of 48/min [Figure 1], chest radiograph showed cardiomegaly, transthoracic echocardiography detected an apically located systemic atrio-ventricular (AV) valve, parallel arrangement of the great arteries, AV and ventriculoarterial discordance and hypertrophied right ventricle (RV) and significant systemic AV valve insufficiency with ejection fraction of 40%. The findings were consistent with congenitally corrected transposition of the great arteries with systemic AV valve insufficiency [Figure 2] and [Figure 3].
Holter monitoring was performed to evaluate the need for pacemaker implantation. The report showed CHB, no significant pauses and one event of ill-sustained ventricular tachycardia (ventricular triplet), with the patient being asymptomatic during the study period. Cardiologist opinion was sought, and they were of the opinion that neither an internal cardioverter-defibrillator (ICD) nor a pacemaker was required for the time being. The remaining hospital stay was uneventful. At the time of discharge, the patient was stable and was discharged with Enalapril 2.5 mg 1OD, Ecosprin 75 mg 1OD and Atorvastatin 10 mg 1OD.
Epidemiology, Prevalence CCTGA has a prevalence of 0.4-0.6% of all congenital heart disease cases. [1] The incidence has been reported to be around 1/33,000 live births. [2] CCTGA was first described by Von Rokitansky in 1895. [3] Pathogenesis Congenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant AV and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. [2] Associated Anomalies and Pathology The two fundamental anatomic abnormalities in CCTGA are transposition of the ascending aorta and pulmonary trunk and inversion of the ventricles. This arrangement results in desaturated systemic venous blood passing from the right atrium through the mitral valve to the left ventricle and into the pulmonary trunk, whereas oxygenated pulmonary venous blood flows from the left atrium through the tricuspid valve to the RV and into the aorta. Thus, the circulation is corrected functionally. The clinical presentation, course and prognosis of patients with congenitally corrected transposition vary depending on the nature and severity of any complicating intracardiac anomalies and of the development of dysfunction of the systemic subaortic RV. Progressive RV dysfunction and tricuspid regurgitation (TR) may also develop in one-third of patients by the age of 30 years; Ebstein-type anomalies of the left-side tricuspid AV valve are common. Ventricular septal defect (VSD) or "pulmonary stenosis" due to obstruction to outflow from the right-sided subpulmonary (anatomic left) ventricle may coexist. CHB occurs at a rate of 2-10% per decade, [4],[5] as seen in our patient. In CCTGAs, dysfunction of the systemic RV occurs with increasing frequency in older patients. The factors contributing to this problem are poorly understood. Indeed, there are patients with uncomplicated CCTGA whose RVs appear to function normally, well into late adulthood. [6],[7] Only 1% of these patients have uncomplicated CCTGA (without associated abnormalities such as pulmonary stenosis, VSD or an Ebstein-like tricuspid valve). [8] Common associated anomalies include VSD, pulmonary stenosis and left AV (morphological tricuspid valve) valve regurgitation as well as CHB, [3] as seen in our patient. Significant coronary artery anomalies have also been described in the literature with CCTGA. [9],[10] It is usually associated with a variety of severe intracardiac defects. [11] It is also probable that with the occurrence of symptomatic heart block and ventricular pacing (which can result in discordant ventricular contraction), systemic ventricular dysfunction worsens. The factors associated with preserved systemic ventricular function in some elderly patients are poorly understood. There are evidences for reversible myocardial ischemia and fixed defects indicating infarction. One interpretation of these findings is that intermittent episodes of myocardial ischemia occur in these patients at times of high oxygen consumption (stress, exercise, hypertension). There could be inadequate coronary flow to a markedly hypertrophied systemic RV supplied by a right coronary artery system with limited ability to provide adequate perfusion during the extremes of metabolic demands. Patients who continue with good systolic function may have right coronary artery systems that are more well developed and provide adequate myocardial perfusion at times of high oxygen demand. [6] Clinical Features Patients with CCTGA without associated defects may remain undiagnosed until adult life, as seen in our patient. Symptoms occur rarely until the 4 th or 5 th decades of life, when rhythm disturbance, left AV valve regurgitation and impaired LV systolic function leads to congestive cardiac failure (CCF). [3] The clinical picture and age of onset depend on the associated malformations, with bradycardia, a single loud second heart sound and a heart murmur being the most common manifestations, as seen in our patient. In the rare cases where there are no associated malformations, congenitally corrected transposition can lead to progressive AV valvar regurgitation and failure of the systemic ventricle. The diagnosis can also be made late in life when the patient presents with CHB or cardiac failure. [2] The diagnosis is made for first time because of heart murmur or incidentally when electrocardiography, chest radiograph or echocardiograph is performed. The common presentations are congestive cardiac failure due to AV valve insufficiency and arrhythmias (ventricular or conduction defects). CHB is known to occur in 30% of patients, as seen in our patient. The combination of congenitally malpositioned conducting tissues and acquired changes like fibrosis, which develops over years, causes conduction defects. [1],[12] Diagnosis The diagnosis of the malformation and associated lesions can be established by comprehensive two-dimensional echocardiography, Doppler examination (as seen in our patient) and cardiac catheterization. [4] Prognosis Morbidity and mortality in this group are predominantly due to systemic AV valve regurgitation and systemic RV failure. [8] Eventually, clinical presentation, progression of disease and the effect of systemic pressure on the functional systemic ventricle will determine prognosis. [9] Prognosis is defined by the associated malformations and on the timing and approach to palliative surgical care. [2] Treatment Apart from valvular replacement, interventions like an atrial switch with a Rastelli procedure are usually performed to correct these anomalies and relieve the symptoms. [9] Surgical management consists of repair of the associated malformations or redirection of the systemic and pulmonary venous return associated with an arterial switch procedure, the so-called double-switch approach. [2] Venous switch corrections of complete transposition of the great arteries (the Mustard or Senning operations) may be followed years later by sinus node or AV node dysfunction or by atrial arrhythmias (especially atrial flutter). Intraventricular surgery may also result in electrophysiologic consequences, including CHB necessitating pacemaker insertion to avoid sudden death. In addition, valvular problems may arise late after initial cardiac operation. [4] Surgical intervention for associated lesions has been associated recently with prolonged adult survival. Various potential risk factors for systemic ventricular failure in CCTGA have been implicated, including systemic AV valvular regurgitation (TR), associated congenital cardiac defects, CHB and surgical intervention, particularly open heart operations. The rarity of this condition has contributed to limited experience at any single institution, and published reports therefore contain relatively small numbers of patients. [6]
CCTGA is a rare congenital heart disease. The literature review reveals that asymptomatic CCTGA is even rarer in elderly males.
[Figure 1], [Figure 2], [Figure 3]
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