Background
Tetralogy of Fallot (ToF), first described in 1888, comprises of an interventricular septal defect, right ventricular outflow tract obstruction, an overriding aorta, and right ventricular hypertrophy (RVH). It is the most common form of cyanotic congenital heart disease (10% of all cases). It is usually detected in early infancy due to symptoms related to cyanosis and right to left shunting of blood through a large ventricular septal defect. Uncorrected, it is associated with a very poor prognosis, with only 3% of adults surviving by 40 years of age. There are no guidelines in adults with uncorrected ToF, just some rare reports of prolonged survival in patients with uncorrected ToF have been described in the medical literature with some patients living until late adulthood. Here we describe the rare presentation of an elderly male with uncorrected ToF and ischemic heart disease.
Case presentation
The 57 years old patient was admitted to the Hospital of Lithuanian University of Health Sciences Kaunas Clinics on 7 Feb 2013 due to the worsening dyspnoea on exercise – NYHA III class symptoms, despite medicamental treatment (BAB, ACEI, aspirin). The congenital heart disease – ToF – was diagnosed right after he was born, but parents of the patient did not agree for surgical repair. The patient had remained fairly asymptomatic for much of his life.
Two times in his life (in 2001 and 2012) sepsis was diagnosed, but there were no signs of infective endocarditis; systemic hypertension more than 10 years, but no other comorbidities were diagnosed. Physical examination was with no significant abnormalities, except moderate hypoxia at rest (92%), arterial hypertension and 4/6 degree systolic murmur at the left sternal border. ECG showed sinus rhythm, right atrial enlargement, biventricular hypertrophy with secondary ST-T wave abnormalities, supraventricular ex. Blood test showed polycythemia, moderate respiratory alkalosis, T pro BNP was 1112 pg/ml. 6 minute walk test – 480m with a decrease of oxygen saturation from 92 to 86%. Echoscopy showed and MRI confirmed all 4 components of ToF: significant infundibular pulmonic stenosis, ventricular septal defect (20×18 mm), overriding aorta and RV hyperthrophy. LV hyperthrophy, it was “D” shaped because of increased preasure in the RV, slightly decreased because of worse myocardial contraction in the inferior wall (50%), impaired relaxation of LV, wide overriding Ao, but with no function disorders. I or II degree regurgitation on MV and TV. Both atria enlargement. Normal diameter RV, with significant outflow tract hyperthrophy, moderate systolic disfunction 53%. Myocardial mass of RV was 81 g (MMI 42 g/m2). Late gadolinium enhancement revealed: a scar of LV inferior wall; focal fibrosis of the RV. Hemodynamic data: preasure in the RV, Ao and LV was 170mmHg, PAP medium – 47mmHg, PCWP – 29mmHg, Wood units – 5,3.
Current guidelines
There are no guidelines in uncorrected tetralogy of Fallot in adult.
References
1. Fallot ELA. Contribution à l’anatomie pa thologique de la maladie bleue (cyanose cardiaque). Marseille Médical1888;25:77–93, 138-58, 207-23, 341-54, 370-86, 403-20.
2. Freeman LJ, Woods S, Hardiman T, et al. Adult congenital heart disease (or GUCH) clinic in a district general hospital: the Norfolk and Norwich experience. Br J Cardiol2002;9:92–8.
Expert’s comments:(Written authorization required from each expert)
1. Rubiś
This is a very complicated case of Tetralogy of Fallot (ToF) in an adult patient combined with coronary arteries disease (CAD). Due to the fact that his clinical condition has been worsening for the last few months a thorough evaluation is necessary. Revealing CAD (narrowing of the right coronary artery) on coronary angiography suggests that this may be the reason of his deterioration. Therefore, I would suggest coronaro- angioplasty (PCI) of the RCA in the first place. Correction of the ToF shall be contraindicated in this case, because of the severe diastolic dysfunction developed throughout the years.
2. Kopeć
Combination of Tetralogy of Fallot (ToF) in an adult patient with coronary arteries disease (CAD) is a very rare condition. This patient has been well clinically adapted to his congenital heart defect. His hemodynamical status resembles one chamber heart. Correction of ToF is at this point not recommended. However, presence of right coronary artery disease suggest that the reason for his clinical deterioration is myocardial ischemia. Therefore, transcutaneous angioplasty (PCI) of the RCA is now recommended. Further treatment of pulmonary hypertension (PH) associated with ToF should be carried on with PH specific agents like endothelin receptor blockers.
Expert’s conclusions:
This patient was qualified for transcutaneous right coronary artery angioplasty. Pulmonary hypertension specific treatment will be continued in this patient.
Authors:
prof.E.Ereminienė1, prof. J. Vaškelytė1, res.R.Ordienė1, res.B.Kaminskaitė1, res.T.Lapinskas1, E.Kazakauskaitė1
Experts:
Rubiś, Kopeć
1Hospital of Lithuanian University of Health Sciences Kaunas Clinics – department of Cardiology.
