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1.  Ross-Konno Operation for Patients with Shone Complex 
Texas Heart Institute Journal  2010;37(2):240-241.
We report the cases of 2 pediatric patients who had Shone complex. Each child had severe left ventricular outflow tract obstruction and marginal mitral obstruction, and both underwent the Ross-Konno operation. The mitral valve was left alone. Both patients survived the operations, and serial follow-up echocardiography up to 4 years later showed a decreased or decreasing trend in the peak mitral diastolic velocity. The Ross-Konno procedure can be an acceptable approach for a subgroup of patients who have Shone complex.
PMCID: PMC2851429  PMID: 20401305
Aortic valve stenosis/congenital/surgery; cardiac surgical procedures/methods; child, preschool; heart defects, congenital/mortality/pathology/surgery; mitral valve/abnormalities/pathology/surgery; reoperation; risk assessment; treatment outcome; ventricular outflow obstruction/complications/congenital/surgery
2.  Surgical outcome of partial Shone complex 
Partial forms of Shone complex are rare. Surgical outcomes of the complete forms have generally been poor, whereas there is a lack of data on long-term follow-up of surgically treated adult partial complex. Between 2001 and 2011, nine patients (age: 38 ± 8 years; six males, 67%) were referred for valvular heart disease. Transthoracic and transoesophageal echocardiography was performed. Data were confirmed by intra-operative findings and reports. Patients were diagnosed as partial Shone complex and presented with mitral stenosis (MS) (45%) or mitral regurgitation (22%) or aortic regurgitation (22%). All but one patient (89%) reported previous surgery: coarctation of the aorta repair (87.5%) and aortic valvulotomy (12.5%). Redo intervention included: mitral valve replacement (25%), mitral repair (25%), aortic valve replacement (37.5%) and subvalvular aortic ridge resection (25%). One patient refused surgery. Patients surgically treated before the age of 5 (87.5%) showed favourable outcome (survival rate: 100%) and a 23.6 (± 4.6)-year follow-up free from events. The patient who underwent first intervention at the age of 50 and the patient with MS who refused surgery showed a 45 (± 7)-year follow-up free from major morbidity. Patients with partial Shone complex, properly diagnosed and treated, show favourable surgical outcome free from major clinical events.
PMCID: PMC3309834  PMID: 22279117
Parachute mitral valve; Aortic coarctation; Shone's syndrome; Congenital heart disease
3.  Persistent fifth aortic arch diagnosed by echocardiography and confirmed by angiography: Case report and literature review 
Persistent fifth aortic arch is a rare congenital anomaly that can be discovered incidentally or at postmortem exam. It can be associated with major congenital heart malformations involving the systemic or the pulmonary circuits. It usually has no clinical significance but can be either, beneficial as in systemic outflow tract obstructions or cause hemodynamic compromise when associated with a significant left to right shunt. We report an infant with persistent fifth aortic arch associated with Shone’s complex diagnosed accurately by transthoracic echocardiography and confirmed by cardiac catheterization and computed tomography.
PMCID: PMC3727347  PMID: 23960580
Persistent fifth aortic arch; Shone complex; Coarctation of the aorta
4.  Nongenetically transmitted disproportionate ventricular septal thickening associated with left ventricular outflow obstruction. 
British Heart Journal  1979;41(3):345-349.
Clinical, haemodynamic, and morphological features are described in 2 patients with disproportionate ventricular septal thickening, left ventricular outflow obstruction with systolic anterior motion of the anterior mitral leaflet, and either acquired or congenital heart disease. The disproportionate septal thickening in these patients appeared to be secondary to their underlying cardiac disease rather than a manifestation of genetically transmitted hypertrophic cardiomyopathy. One patient with combined aortic and mitral stenosis had severe systolic anterior motion of the anterior mitral leaflet and a residual large systolic pressure gradient between left ventricle and systemic artery after aortic valve replacement. In this patient the systolic anterior motion was evident in the presence of mitral valve stenosis. The other patient with mild aortic stenosis and a previously repaired coarctation of the aorta also had mild systolic anterior motion and a small subaortic systolic pressure gradient. Hence, these 2 patients demonstrate that disproportionate septal thickening secondary to acquired or congenital heart disease may be associated with left ventricular outflow obstruction and systolic anterior motion of the anterior mitral leaflet.
PMCID: PMC482038  PMID: 154915
5.  Primary Left Ventricular Rehabilitation is Effective in Maintaining Two-Ventricle Physiology in the Borderline Left Heart 
Borderline left heart disease is characterized by left heart obstructive lesions (coarctation, aortic and mitral stenosis, left ventricular (LV) hypoplasia) and endocardial fibroelastosis (EFE). The multilevel obstruction and impaired LV systolic and diastolic function contribute to failure of biventricular circulation. We studied the effects of LV rehabilitation - EFE resection with mitral and/or aortic valvuloplasty - on LV function and clinical outcomes.
All patients with borderline left heart structures and EFE who underwent primary LV rehabilitation procedure were retrospectively analyzed to determine operative mortality, reintervention rates, and hemodynamic status. Left heart dimensions and hemodynamics were recorded from pre- and post-operative echocardiogram and cardiac catheterization. Postoperative left atrial pressure was obtained from the intracardiac line early after LV rehabilitation. Pre- and post-operative values were compared by paired t-test.
Between 1999 and 2008, 9 patients with EFE and borderline left heart underwent LV rehabilitation at a median age of 5.6 months (range 1–38 months). There was no operative mortality, and at a median follow up of 25 months (6 months to 10 years), there was one death from non cardiac causes, and two patients required reoperations. Significant increase in ejection fraction and LV end diastolic volume were observed, whereas left atrial pressure and RV/LV pressure ratios decreased postoperatively.
In patients with borderline left hearts, primary LV rehabilitation with EFE resection and mitral and aortic valvuloplasty results in improved LV systolic and diastolic performance and decreased RV pressures. This approach may provide an alternative to single ventricle management in this difficult patient group.
PMCID: PMC2787646  PMID: 19819471
6.  LEFT HEART CATHETERIZATION—The Clinical Importance of Findings 
California Medicine  1958;89(3):179-180.
Left heart catheterization using the transbronchial route to obtain pressures in the left atrium and left ventricle was used successfully in 29 cases with no mortality or morbidity. It was found to be useful in differentiating between mitral stenosis and mitral insufficiency, as well as determining the amount of aortic stenosis present when there was involvement of the aortic valve. The technique was also helpful in determining which is the predominant lesion when there is a disease of the aortic and mitral valves.
In two patients in a series of 29, data obtained by left heart catheterization forestalled operation on the basis of a mistaken diagnosis of mitral stenosis when actually no mitral valvular disease was present. In another eight patients, the predominant lesion was found to be mitral stenosis rather than mitral insufficiency as it was thought to be before catheterization. In two patients, who had only systolic murmurs, catheterization revealed mitral stenosis rather than mitral insufficiency. In four patients who were thought to have mixed valvular disease, left heart catheterization showed only aortic valvular disease.
PMCID: PMC1512485  PMID: 13573183
7.  Muscular Subaortic Stenosis 
Two types of intraventricular pressure differences within the left ventricle of man are described. The first is encountered in cases of muscular (or fibrous) subaortic stenosis, in which the outflow tract pressure distal to the stenosis (and proximal to the aortic valve) is low, whereas all pressures recorded in the left ventricle proximal to the stenosis, including that just inside the mitral valve (the initial inflow tract pressure) are high.
The second type of intraventricular pressure difference may be recorded in patients without muscular subaortic stenosis when a heart catheter is advanced to the left ventricular wall in such a manner that it becomes imbedded or entrapped by cardiac muscle in systole. Such an entrapped catheter records a high intraventricular pressure that is believed to reflect intramyocardial tissue pressure, which normally exceeds intracavitary pressure. In such cases the initial inflow tract pressure is not high and is precisely equal to the outflow tract systolic pressure, i.e. both are recording intracavity pressure. This type of intramyocardial to intracavitary pressure difference may also be encountered in the left ventricle of dogs.
The recent suggestion that intraventricular pressure differences in the left ventricle of cases of muscular subaortic stenosis are due to catheter entrapment by cardiac muscle is refuted by using the initial inflow tract pressure as the means of differentiation between the two types of intraventricular pressure differences outlined.
PMCID: PMC1935765  PMID: 5951625
8.  Echocardiography in combined discrete and hypertrophic subaortic stenosis. 
Thorax  1981;36(2):126-129.
A 10-year-old boy with discrete subaortic stenosis had coexisting abnormal systolic anterior motion of the mitral valve, demonstrated by echocardiography, a sign normally taken as indicating the presence of idiopathic hypertrophic subaortic stenosis. Surgical removal of a fibromuscular diaphragm abolished the echocardiographic signs of discrete subaortic stenosis but abnormal systolic anterior motion of the mitral valve persisted. A severe low cardiac output state complicated immediate recovery after removal of the left ventricle outflow obstruction, and was overcome only with considerable difficulty. The presence of hypertrophied septal muscle, and the associated small left ventricular cavity size, was thought to be the immediate cause of these problems, so that recognition of marked septal hypertrophy, together with abnormal anterior systolic movement of the mitral valve, should serve as a warning that similar difficulties are likely to bae encountered by other patients, after removal of the obstruction in subaortic stenosis. In our experience other forms of left ventricle outflow tract obstruction have not been found to show such a marked degree of asymmetric septal hypertrophy, but this does not mean it may not occur.
PMCID: PMC471455  PMID: 7196603
9.  An Unusual Presentation of Congenital Heart Disease 
Texas Heart Institute Journal  2003;30(3):214-217.
We describe an unusual presentation of congenital heart disease mimicking preeclampsia in a young, gravid girl. The diagnosis of Shone's complex was confirmed by echocardiography. This complex is manifested by multiple levels of obstruction involving the left side of the heart and the systemic circulation. It is extremely rare, especially in pregnant adolescents. We briefly describe the patient's clinical history, physical examination, and treatment, as well as our clinical decisions regarding her case. The discussion focuses on the spectrum of findings in Shone's complex and the physiologic impact of therapy on this patient. (Tex Heart Inst J 2003;30:214–7)
PMCID: PMC197320  PMID: 12959205
Heart disease, congenital; mitral valve stenosis; pregnancy; Shone's complex
10.  Incidence and prognosis of obstruction of the left ventricular outflow tract in Liverpool (1960-91): a study of 313 patients. 
British Heart Journal  1994;71(6):588-595.
OBJECTIVE--To determine the incidence of the various types of obstruction of the left ventricular outflow tract in patients born in the five health districts of Liverpool and to compare their prognosis into early adult life. DESIGN--Notes of all patients with obstruction of the left ventricular outflow tract born in the study area between 1960 and 1991 were reviewed. Patients with hypoplastic left ventricle, mitral valve atresia, and those with discordant atrioventricular or ventriculoarterial connections were excluded. Survivors were traced and assessed clinically; eight were lost to follow up. RESULTS--Obstruction of the left ventricular outflow tract occurred in 313 patients (67% male), giving an incidence of 6.1/10,000 live births. The median (range) age at presentation was 13.9 months (0-20 yr). Aortic valve stenosis occurred in 71.2%: subvalve in 13.7%, supravalve in 7.7%, and multilevel in 7.4%. The median (range) duration of follow up was 10.0 (1-29) yr. Aortic regurgitation at presentation occurred more often (p < 0.001) in patients with subvalve stenosis than in those with other types of obstruction, but there was an increased incidence (p < 0.001) at follow up in patients with valve stenosis. Ninety eight patients (31.3%) underwent operation. The reoperation rate was 27% for valve stenosis and 9% for subvalve obstruction. No patients with supravalve stenosis underwent reoperation. The median duration from first operation to aortic valve replacement (17 patients) was 12.3 years. Hazard analysis confirmed that the risk of death was higher in patients presenting at a younger age, with more severe stenosis, and those with subaortic, multilevel obstruction or a syndrome. Hazard analysis also showed that the risk of a clinical event (surgery, balloon dilatation, or endocarditis) was greater in patients who presented at a younger age, with more severe stenosis or aortic regurgitation, and in those with subvalve or multilevel obstruction. CONCLUSIONS--Aortic valve stenosis was the most common type of obstruction. Hazard analysis indicates that the age and severity of obstruction at presentation have a significant effect on survival and freedom from a clinical event. The risk of premature death in patients presenting with moderately severe valve stenosis is reasonably small, but increases considerably in those with subvalve, supravalve, and multilevel obstruction. Patients who present with mild valve stenosis have a good prognosis. The risk of sudden death is less than previous predictions. Patients with subvalve and multilevel obstruction, even when mild at presentation, are more likely to undergo intervention or develop endocarditis than those with valve or supravalve stenosis. Follow up into adult life is essential.
PMCID: PMC1025460  PMID: 8043345
11.  Hypoplastic left heart syndrome 
Hypoplastic left heart syndrome(HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. HLHS has been reported to occur in approximately 0.016 to 0.036% of all live births. Newborn infants with the condition generally are born at full term and initially appear healthy. As the arterial duct closes, the systemic perfusion becomes decreased, resulting in hypoxemia, acidosis, and shock. Usually, no heart murmur, or a non-specific heart murmur, may be detected. The second heart sound is loud and single because of aortic atresia. Often the liver is enlarged secondary to congestive heart failure. The embryologic cause of the disease, as in the case of most congenital cardiac defects, is not fully known. The most useful diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation. Differential diagnosis includes other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic stenosis, coarctation of the aorta, interrupted aortic arch). Children with the syndrome require surgery as neonates, as they have duct-dependent systemic circulation. Currently, there are two major modalities, primary cardiac transplantation or a series of staged functionally univentricular palliations. The treatment chosen is dependent on the preference of the institution, its experience, and also preference. Although survival following initial surgical intervention has improved significantly over the last 20 years, significant mortality and morbidity are present for both surgical strategies. As a result pediatric cardiologists continue to be challenged by discussions with families regarding initial decision relative to treatment, and long-term prognosis as information on long-term survival and quality of life for those born with the syndrome is limited.
PMCID: PMC1877799  PMID: 17498282
12.  Muscular (hypertrophic) subaortic stenosis (hypertrophic obstructive cardiomyopathy): the evidence for true obstruction to left ventricular outflow. 
Postgraduate Medical Journal  1986;62(728):531-536.
The clinical and haemodynamic significance of the subaortic pressure gradient in patients with muscular (hypertrophic) subaortic stenosis (hypertrophic obstructive cardiomyopathy) has long been debated. In this report we summarize the evidence which indicates that true obstruction to left ventricular outflow exists in these patients. Rapid left ventricular ejection, through an outflow tract narrowed by ventricular septal hypertrophy, results in Venturi forces causing systolic anterior motion of the anterior (or posterior) mitral leaflets. Mitral leaflet-septal contact results in obstruction to outflow and the accompanying mitral regurgitation. The time of onset of mitral leaflet-septal contact determines the magnitude of the pressure gradient and the severity of the mitral regurgitation, as well as the degree of prolongation of left ventricular ejection time and the percentage of left ventricular stroke volume that is ejected in the presence of an obstructive pressure gradient. Early and prolonged mitral leaflet-septal contact results in a large pressure gradient, significant mitral regurgitation, as well as dramatic prolongation of the ejection time and a large percentage of left ventricular stroke volume being obstructed. Late and short mitral leaflet-septal contact results in little haemodynamic perturbation. Hypertrophic cardiomyopathy patients with obstructive pressure gradients are significantly more symptomatic than those without. Thus the obstructive pressure gradients in hypertrophic cardiomyopathy are of clinical as well as haemodynamic significance. To deny the existence of obstruction to outflow in patients with muscular subaortic stenosis is to deny these patients appropriate medical and surgical therapy.
PMCID: PMC2418801  PMID: 3774688
13.  Morphology of ventricular septal defect associated with coarctation of aorta. 
British Heart Journal  1983;50(2):176-181.
It is now well established that the morphology of the ventricular septal defect associated with interrupted aortic arch is such as to compromise blood flow to the ascending aorta. Though there is some evidence that a similar mechanism may be operative in coarctation with ventricular septal defect, we are unaware of any necropsy study of this hypothesis. We therefore studied 25 hearts from the Heart Museum of Children's Hospital of Pittsburgh with coarctation and ventricular septal defect. Four had a malalignment defect with left ventricular outflow tract obstruction such as is seen in cases with interruption. Twenty of the remaining cases had a particular form of perimembranous defect with aortic overriding. The defects were partially closed by tricuspid valve tissue, the left ventricular outflow tract being further narrowed by various anatomical lesions. In addition, mitral valve malformations were present in 14 cases. The anatomy of the group as a whole suggests a possible reduction of aortic blood flow during fetal development. The clinical implications of these findings remain to be evaluated.
PMCID: PMC481392  PMID: 6882605
14.  Unusual findings in secondary hypertension: double orifice mitral associated to aortic coarctation, bicuspid aortic valve, and ventricular septal defect 
Double orifice mitral valve is a rare congenital anomaly presenting as the division of the mitral orifice into two anatomically distinct orifices, it is most often associated with other congenital heart defects such as left-sided obstructive lesions, ventricular septal defects or aortic coarctation. We report the case of a 15 year’s old boy, admitted for arterial hypertension, auscultation revealed a rude aortic systolic murmur. Femoral pulses were weak. Owing to the suspicion of aortic coarctation, transthoracic echocardiography was performed, the aortic coarctation with dilation of the aorta proximal to the stenosis was confirmed and bicuspid aortic valve was found with good function. The mitral valve was dysmorphic, having two orifices; it was divided into 2 separate valve orifices by a fibrous bridge. No mitral or aortic regurgitation was documented by color Doppler flow imaging. The left ventricular ejection fraction was normal. There was a small peri membranous ventricular septal defect with left to right shunt. Owing to the severity of the aortic coarctation and taking into account the anatomy and characteristics of the patient, he was made a surgical correction of aortic coarctation with good outcome.
PMCID: PMC3976167  PMID: 24693935
Secondary hypertension; Aortic coarctation; Bicuspid aortic valve; Double orifice mitral; Ventricular septal defect
15.  Role of connexins in human congenital heart disease: the chicken and egg problem 
Inborn cardiac diseases are among the most frequent congenital anomalies and are the main cause of death in infants within the first year of age in industrialized countries when not adequately treated. They can be divided into simple and complex cardiac malformations. The former ones, for instance atrial and ventricular septal defects, valvular or subvalvular stenosis or insufficiency account for up to 80% of cardiac abnormalities. The latter ones, for example transposition of the great vessels, Tetralogy of Fallot or Shone’s anomaly often do not involve only the heart, but also the great vessels and although occurring less frequently, these severe cardiac malformations will become symptomatic within the first months of age and have a high risk of mortality if the patients remain untreated. In the last decade, there is increasing evidence that cardiac gap junction proteins, the connexins (Cx), might have an impact on cardiac anomalies. In the heart, mainly three of them (Cx40, Cx43, and Cx45) are differentially expressed with regard to temporal organogenesis and to their spatial distribution in the heart. These proteins, forming gap junction channels, are most important for a normal electrical conduction and coordinated synchronous heart muscle contraction and also for the normal embryonic development of the heart. Animal and also some human studies revealed that at least in some cardiac malformations alterations in certain gap junction proteins are present but until today no particular gap junction mutation could be assigned to a specific cardiac anomaly. As gap junctions have often been supposed to transmit growth and differentiation signals from cell to cell it is reasonable to assume that they are somehow involved in misdirected growth present in many inborn heart diseases playing a primary or contributory role. This review addresses the potentional role of gap junctions in the development of inborn heart anomalies like the conotruncal heart defects.
PMCID: PMC3669755  PMID: 23760510
connexin; gap junction; cardiac malformations; cardiac morphogenesis; mutation
16.  A forme fruste of Shone’s anomaly in a 65 year-old patient 
Shone’s anomaly, a congenital cardiac malformation complex, consists of multiple levels of left heart obstruction. A rare case of an incomplete form of this anomaly discovered incidentally during cardiac catheterization for an unrelated event is described.
PMCID: PMC2322915  PMID: 18523519
Congenital heart disease; Shone’s anomaly
17.  Accessory mitral valve tissue: an unusual cause of congenital mitral stenosis 
Accessory mitral valve tissue (AMVT) is a rare congenital anomaly of endocardial cushion. Usually, it arises from the anterior mitral leaflet and causes the left ventricular outflow tract obstruction. We report here the first and a rarest presentation of the AMVT in a 19-year old female patient diagnosed to have double outlet right ventricle, ventricular septal defect (VSD), infundibular stenosis and congenital mitral stenosis (MS). She presented with a history of shortness of breath and chest pain over 3 years. Diagnosis was made by chest X-ray, transthoracic and transoesophageal echocardiography, which was confirmed by cardiac catheterization, and angiography. A successful closure of the VSD with excision of the right ventricular bundle and excision of the AMVT was done. Post-operative course was uneventful and an echocardiogram before the discharge showed no residual shunt, no right ventricular outflow gradient or mitral regurgitation, and the gradient across the mitral valve was 5/3 mmHg. We emphasize that, although AMVT commonly produces left ventricular outflow tract obstruction, it should be considered a rare but an important cause of congenital MS.
PMCID: PMC3420277  PMID: 22108926
Accessory mitral valve tissue; Congenital mitral stenosis; Echocardiography; Angiography
18.  Exuberant accessory mitral valve tissue with possible true parachute mitral valve: a case report 
A parachute mitral valve is defined as a unifocal attachment of mitral valve chordae tendineae independent of the number of papillary muscles. Data from the literature suggests that the valve can be distinguished on the basis of morphological features as either a parachute-like asymmetrical mitral valve or a true parachute mitral valve. A parachute-like asymmetrical mitral valve has two papillary muscles; one is elongated and located higher in the left ventricle. A true parachute mitral valve has a single papillary muscle that receives all chordae, as was present in our patient. Patients with parachute mitral valves during childhood have multilevel left-side heart obstructions, with poor outcomes without operative treatment. The finding of a parachute mitral valve in an adult patient is extremely rare, especially as an isolated lesion. In adults, the unifocal attachment of the chordae results in a slightly restricted valve opening and, more frequently, valvular regurgitation.
Case presentation
A 40-year-old Caucasian female patient was admitted to a primary care physician due to her recent symptoms of heart palpitation and chest discomfort on effort. Transthoracic echocardiography showed chordae tendineae which were elongated and formed an unusual net shape penetrating into left ventricle cavity. The parasternal short axis view of her left ventricle showed a single papillary muscle positioned on one side in the posteromedial commissure receiving all chordae. Her mitral valve orifice was slightly eccentric and the chordae were converting into a single papillary muscle. Mitral regurgitation was present and it was graded as moderate to severe. Her left atrium was enlarged. There were no signs of mitral stenosis or a subvalvular ring. She did not have a bicuspid aortic valve or coarctation of the ascending aorta. The dimensions and systolic function of her left ventricle were normal. Our patient had a normal body habitus, without signs of heart failure. Her functional status was graded as class I according to the New York Heart Association grading.
A recently published review found that, in the last several decades, there have been only nine adult patients with parachute mitral valve disease reported, of which five had the same morphological characteristics as our patient. This case presentation should encourage doctors, especially those involved in echocardiography, to contribute their own experience, knowledge and research in parachute mitral valve disease to enrich statistical and epidemiologic databases and aid clinicians in getting acquainted with this rare disease.
PMCID: PMC3459793  PMID: 22967395
19.  Echocardiographic Evaluation of Asymptomatic Parental and Sibling Cardiovascular Anomalies Associated With Congenital Left Ventricular Outflow Tract Lesions 
Pediatrics  2004;114(3):691-696.
Left ventricular outflow tract obstructive (LVOTO) malformations are a leading cause of infant mortality from birth defects. Genetic mechanisms are likely, and there may be a higher rate of asymptomatic LVOTO anomalies in relatives of affected children. This study sought to define the incidence of cardiac anomalies in first-degree relatives of children with congenital aortic valve stenosis (AVS), coarctation of the aorta (CoA), and hypoplastic left heart syndrome (HLHS).
A total of 113 probands with a nonsyndromic LVOTO malformation of AVS (n = 25), BAV (n = 3), CoA (n = 52), HLHS (n = 30), and aortic hypoplasia with mitral valve atresia (n = 2) were ascertained through chart review or enrolled at the time of diagnosis. Echocardiography was performed on 282 asymptomatic first-degree relatives.
Four studies had poor acoustic windows, leaving 278 studies for analysis. BAV were found in 13 (4.68%) first-degree relatives. The relative risk of BAV in the relatives was 5.05 (95% confidence interval: 2.2–11.7), and the broad sense heritability was 0.49, based on a general population frequency of 0.9%. BAV was more common in multiplex families compared with sporadic cases. An additional 32 relatives had anomalies of the aorta, aortic valve, left ventricle, or mitral valve.
The presence of an LVOTO lesion greatly increases the risk of identifying BAV in a parent or sibling, providing additional support for a complex genetic cause. The parents and siblings of affected patients should be screened by echocardiography as the presence of an asymptomatic BAV may carry a significant long-term health risk.
PMCID: PMC1361301  PMID: 15342840
congenital heart disease; genetics; recurrence risk; aortic valve; coarctation; hypoplastic left heart syndrome; CCVM, congenital cardiovascular malformation; LVOTO, left ventricular outflow tract obstruction; HLHS, hypoplastic left heart syndrome; AVS, aortic valve stenosis; CoA, coarctation of the aorta; BAV, bicuspid aortic valve; CI, confidence interval
20.  Morphology of aortic arch obstruction with patent ductus arteriosus 
Cardiovascular Diseases  1981;8(2):238-249.
Thirty-one hearts with aortic arch obstruction and patent ductus arteriosus were examined with special reference to associated cardiac anomalies. Six presented with complete interruption of the aortic arch, four with atretic isthmus, twelve with coarctation, and three with tubular hypoplasia. Associated cardiac anomalies were divided into two main groups: (1) septal defect with left-to-right shunt, and (2) left ventricular inflow and/or outflow obstruction. A high incidence (9/19=47.4%) of ventriculo-infundibular malalignment type of ventricular septal defect with subaortic stenosis was observed. Associated cardiac lesions that reduce blood flow in the aortic arch during fetal life may be responsible for poor development of this structure.
PMCID: PMC287923  PMID: 15216214
21.  Mitral stenosis with high left ventricular diastolic pressure. 
British Heart Journal  1979;41(4):405-411.
Three patients with mitral stenosis are described, in whom the haemodynamic findings at cardiac catheterisation were more suggestive of left ventricular myocardial disease, in that the left ventricular diastolic pressure was high and the mitral valve gradient small. However, their echocardiograms showed abnormal wall movement during diastole characteristic of severe inflow obstruction, with slow and protracted filling, and at operation mitral stenosis was confirmed. Left ventricular wall stress was estimated throughout the cardiac cycle in one patient, and the diastolic stress-strain relation shown to be abnormal. The effects of mitral stenosis on left ventricular function are complex, and are not explicable simply by reduction in size of the mitral orifice.
PMCID: PMC482047  PMID: 465208
22.  Fixed subaortic stenosis after repair of ostium primum defects. 
British Heart Journal  1981;45(6):689-697.
Three patients who had closure of an ostium primum defect developed severe fixed subaortic stenosis requiring surgical removal three to 11 years late. In two, the basic anatomy of the attachment of the superior portion of the anterior mitral cusp and submitral apparatus predisposed to the formation or deterioration of this complication. Both had subvalvar gradients and angiographic narrowing of the outflow tract in systole and diastole. In the third patient the strut of the Hancock prosthesis used to replace a double orifice mitral valve impinged on the outflow tract to stimulate the formation of a serious fixed obstruction. Subaortic gradients before operation must be specifically looked for, particularly in those with the characteristic radiological deformity of the submitral apparatus, and at operation the subaortic region must be inspected. Postoperatively the search for developing subaortic stenosis must include regular M-mode and 2-dimensional echocardiography, and cardiac catheterisation may be required. Although a rare complication, subaortic stenosis is a progressive and damaging lesion which requires early recognition and treatment despite the apparent well-being of the patient.
PMCID: PMC482583  PMID: 7196251
23.  Epidemiology of Noncomplex Left Ventricular Outflow Tract Obstruction Malformations (Aortic Valve Stenosis, Coarctation of the Aorta, Hypoplastic Left Heart Syndrome) in Texas, 1999 –2001 
The left ventricular outflow tract (LVOT) malformations aortic valve stenosis (AVS), coarctation of the aorta (CoA), and hypoplastic left heart syndrome (HLHS) contribute significantly to infant mortality due to birth defects. Previous epidemiology data showed rate differences between male and female and white and black ethnic groups. The Texas Birth Defects Registry, an active surveillance program, enables study in a large, diverse population including Hispanics.
Records of children up to 1 year old with AVS, CoA, and HLHS born in Texas from 1999 to 2001, were collected from the registry. Those including additional heart defects or a chromosomal anomaly were excluded. Multivariate analysis included: infant sex; United States–Mexico border county residence; and maternal age, race/ethnicity, birthplace, and education.
There were 910 cases among 1.08 million live births, of which 499 met inclusion criteria. Multivariate modeling of all LVOT malformations combined demonstrated lower prevalence rate ratios (PRRs) for black males (0.26) and Hispanic males (0.70). Similar results were found for CoA but not AVS or HLHS. Higher PRRs were noted for increased maternal age for LVOT (1.3 for 24–34 years; 1.7 for >34 years), AVS, and HLHS, but not CoA, and higher PRRs across all diagnoses for males (LVOT PRR, 2.4) were noted. CoA PRRs were higher in border county vs. non–border county residents (PRR, 2.1). Maternal education and birthplace were not significant factors.
There are rate differences for males among all 3 ethnic groups. Sex and ethnic differences suggest genetic etiologies, where the ethnic differences could be used to find susceptibility loci with mapping by admixture linkage disequilibrium. Increased CoA rates along the U.S.–Mexico border suggest environmental causes that will require further monitoring.
PMCID: PMC1361303  PMID: 16007587
congenital heart disease; Hispanic; Poisson distribution; regression analysis; prevalence; south-western United States; genetics
24.  Transoesophageal echocardiographic assessment of fixed subaortic obstruction in children. 
British Heart Journal  1991;66(4):281-284.
OBJECTIVE--To evaluate the clinical usefulness of transoesophageal echocardiography in the assessment of children with fixed left ventricular outflow tract stenosis. PATIENTS AND METHODS--Eight consecutive children, aged over 5 years, with fixed subaortic stenosis and one child with fixed subpulmonary left ventricular outflow tract stenosis were prospectively assessed by precordial and transoesophageal echocardiography. RESULTS--Transoesophageal images of the left ventricular outflow tract were much clearer than precordial images in all patients except one with a prosthetic mitral valve. Improved visualisation provided further information on the nature of the lesion (additional chordal attachment of the mitral valve in one, accessory atrioventricular valve tissue with aneurysm formation in one), on the extent of the lesion (circumferential in three), and on the very close relation of a ridge to the aortic valve leaflets in one. Transoesophageal Doppler did not provide any additional information on aortic regurgitation and was unreliable for gradient estimation across the left ventricular outflow tract. CONCLUSIONS--Transoesophageal imaging provides an excellent means of visualising lesions in the left ventricular outflow tract and can be useful in a few children and adolescents in whom precordial echocardiography does not provide adequate information. The technique can also be used intraoperatively to define the full extent of the obstructive lesion and to assess residual lesions after surgery.
PMCID: PMC1024722  PMID: 1747278
25.  Arterial switch operation. Surgical solutions to complex problems. 
Texas Heart Institute Journal  1997;24(4):322-333.
The arterial switch operation is appropriate treatment for most forms of transposition of the great arteries. In this review we analyze indications, techniques, and outcome for various subsets of patients with transposition of the great arteries, including those with an intact septum beyond 21 days of age, intramural coronary arteries, aortic arch obstruction, the Taussig-Bing anomaly, discordant (corrected) transposition, transposition of the great arteries with left ventricular outflow tract obstruction, and univentricular hearts with transposition of the great arteries and subaortic stenosis.
PMCID: PMC325475  PMID: 9456486

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