The murmur of pulmonic regurgitation in tetralogy of Fallot with absent pulmonic valve

Absent pulmonic valve (APV) in tetralogy of Fallot produces a pulmonic regurgitation murmur (PRM) which is usually late in onset after A2, low pitched, and of crescendo-decrescendo character. We have seen three adult patients with tetralogy of Fallot with APV and have done intracardiac sound and pressure studies in two. The PRM was loudest in the RV outflow tract (RVOT), where the onset was earlier than the murmur recorded on the chest wall. The crescendo portion of the PRM occurred during an abnormally slow decline in the RVOT pressure pulse after the crossover of PA and RVOT pressures. The RVOT pressure reached its minimum 30 msec after the RV body pressure, resulting in a pressure gradient between the two. The PRM peaked 30 msec later in the RV body than in the RVOT. The delayed precordial onset of the PRM after A2 is likely due to failure of transmission of early vibrations through the chest wall. The morphology of the PRM in tetralogy of Fallot with APV may be related to delayed relaxation with altered diastolic compliance of the RVOT which is subjected to a large regurgitant volume from the massively dilated pulmonary arteries.     

Quantitative angiocardiographic recognition of atypical form of tetralogy of Fallot with absent pulmonic valve

A 9-year-old boy is reported who had tetralogy of Fallot, rudimentary pulmonic valve, and supravalvar pulmonic stenosis. The patient lacked almost all of the clinical findings commonly encountered in this syndrome. Thus he never had signs of a large left-to-right shunt, or congestive heart failure. He had no murmur of pulmonic regurgitation and his pulmonary artery was not large on chest roentgenogram. Angiocardiography revealed moderate main pulmonary arterial dilation. The lack of the usual manifestations of tetralogy of Fallot with absent pulmonic valve was due to supravalvar pulmonic stenosis, acting as a natural pulmonary artery band. A quantitative angiocardiographic study was undertaken in order to find a clue for the diagnosis of these atypical cases. The ratio of the transverse diameters of the main pulmonary artery and the aortic root as measured on lateral angiocardiograms in 31 children with uncomplicated tetralogy of Fallot was 0.70 +/- 0.22, whereas this ratio was 1.70 in this particular patient (p less than 0.001). It is concluded that a quantitative evaluation of the ratio of the transverse diameter of the main pulmonary artery to the aortic root on lateral angiocardiogram allows differentiation of tetralogy of Fallot with absent pulmonic valve associated with supravalvular pulmonic stenosis from uncomplicated forms of tetralogy of Fallot.     

Prenatal diagnosis of tetralogy of Fallot with absence of the leaflets of the pulmonic valve.

Tetralogy of Fallot with absence of the leaflets of the pulmonic valve is relatively rare. We describe the prenatal diagnosis of this malformation in two fetuses. The association between the agenesis of the arterial duct and absence of the valvar leaflets is discussed. The diagnosis of the syndrome in the presence of dilated and pulsatile pulmonic arteries is easy to make. It should allow early counselling and planning of early care after delivery.     

心肌超声速度向量成像技术对法洛四联症胎儿右心功能的初步研究

目的:应用速度向量成像(VVI)技术评价法洛四联症(TOF)胎儿右心室整体及局部心肌功能。方法:选取2010年8月至2015年11月,在我院产前行胎儿超声心动图检查并诊断为TOF的胎儿24例,平均孕周(24.9±2.7)周。应用常规超声参数三尖瓣环收缩期位移(TAPSE)、右心室面积变化分数(RVFAC)测量右心室整体功能,应用VVI技术测量右心室纵向整体及节段心肌(右心室侧壁基底段、中间段、心尖段及室间隔侧基底段、中间段、心尖段)的收缩期峰值应变(S)及应变率(SR),结果与同孕周的48例正常胎儿进行比较。结果:TOF胎儿组TAPSE、RVFAC与正常胎儿组比较无明显变化,差异无统计学意义(P均0.05);TOF组胎儿右心室壁整体及节段心肌应变及应变率较正常对照组均明显减低,差异有统计学意义(P均0.05)。结论:TOF患儿右心功能在胎儿期即出现明显减低。VVI技术可定量评价TOF胎儿右心室整体及局部心肌功能。     

The tetralogy of Fallot

Two cases are presented, in which, at autopsy, there were changes in the heart which compose the tetralogy of Fallot, namely, right ventricular hypertrophy, pulmonic stenosis, interventricular septal defect, and dextroposition of the aorta. The patients were 53 and 43 years of age, respectively. The first, it is believed, orginally had an Eisenmenger variant, with no pulmonic stenosis. Rheumatic pulmonic valvulitis, acquired late in life, resulted in pulmonic stenosis, completing the tetralogy and contributing greatly to his disability and death. The second patient had the true tetralogy from birth. The presence of patency of the ductus arteriosus, and, later, of systemic hypertension, may have helped alleviate the cardiodynamic derangement and contributed to her longevity.     

Cineangiocardiography in tetralogy of Fallot.

The advantages of angled angiographic projections are demonstrated in a review of 55 cases of tetralogy of Fallot. Particular attention was paid to the origins of the branch pulmonary arteries, whose diameter was measured and compared with that of the descending aorta, showing that in 12 per cent there was narrowing to below 40 per cent of descending aortic diameter. Right aortic arch was present in seven cases (13%) and a major coronary artery anomaly in two (4%).     

Extracardiac malformations in tetralogy of Fallot

The purpose of our study was to determine the incidence and type of malformations associated with tetralogy of Fallot (TF). Among 133 patients followed up for 12 years, 30 who had either complete TF (n = 26) or pulmonary atresia and interventricular septal defect (n = 4) presented with another, extracardiac malformation. These malformations were part of a malformative syndrome in 21/30 patients, including 4 trisomies 21, 6 embryofoetopathies unquestionably (antiepileptics n = 2, alcohol n = 1) or possibly (hormonal treatment n = 1) of environmental origin, 6 branchial arch pathologies and 5 miscellaneous syndromes. The extracardiac malformation was isolated in the remaining 9 patients, including 5 cases of skeletal anomaly and one case each of omphalocele and microcephaly. Altogether, in these 30 patients skeletal and neurosensory anomalies were largely predominant. Skeletal anomalies involved the vertebral column in 8 cases (cervical 3, thoracic 4, lumbar 1) and the limbs in 5 cases (2 of which were phocomelias). The 4 patients with pulmonary atresia and interventricular septal defect also presented with an early embryopathy: Shprinzen's velocardiofacial syndrome (n = 2), DiGeorge syndrome (n = 1) and situs inversus (n = 1). We compared TF with other congenital heart diseases in our population and found that the incidence of associated malformations was about average. The various associations are discussed. In genetic syndromes, trisomy 21 predominates and TF is less frequent than atrioventricular canal. In syndromes of environmental origin, the role of antiepileptic drugs (chiefly phenytoin and trimethadione) is well-known, alcohol is less often responsible and the TF-phocomelia association is suggestive of progesterone. In branchial arch syndromes, TF is the usual cardiopathy.(ABSTRACT TRUNCATED AT 250 WORDS)     

Aortic root disease in tetralogy of Fallot

PURPOSE OF REVIEW: Progressive aortic root dilatation is a recognized feature of tetralogy of Fallot even in patients following initial reparative surgery. The underlying pathophysiology was initially attributed to altered hemodynamics resulting from longstanding volume overloading and stretching of the aortic root from increased right to left shunting. This review explores the pathophysiology and possible mechanisms for the aortic dilatation, and whether these changes are a reflection of the initial hemodynamic stress or a cellular expression of an unrecognized gene associated with conotruncal defects. RECENT FINDINGS: The recent publication of two case reports of aortic aneurysm and dissection in tetralogy of Fallot patients re-emphasized the fact that aortic root dilatation can no longer be regarded as a benign problem in tetralogy of Fallot patients. Findings of intrinsic histological abnormalities in the aortic root and ascending aorta of tetralogy of Fallot patients suggest that intrinsic abnormalities may also play an important causative role. SUMMARY: A better understanding of the pathophysiology will help to formulate future treatment and management strategies in the subgroup of tetralogy of Fallot patients with progressive aortic dilatation.