Savitri Shrivastava

The M-mode echocardiogram in Fabry's disease

Fabrys disease results from deficient activity of the enzyme alpha-galactosidase A. Cardiac abnormalities result from glycosphingolipid deposition in the myocardium, valvular tissue, and vessel walls. A noninvasive method to examine these abnormalities would be useful in the evaluation of patients. We examined the echocardiograms of 32 patients, 25 hemizygous and seven heterozygous, for Fabrys disease. The aortic root diameter was measured in each hemizygote. In nine patients under 26 years it was 33.2 +/- 1.2 mm. and in two it was dilated. In 16 patients over 26 years it was 38.8 +/- 1.2 mm. (p < 0.01), and in 12 it was dilated. The left ventricular posterior wall was measured in the echocardiogram of 21 normotensive hemizygotes. The difference in thickness between nine patients under 26 years (9.6 +/- 1.3 mm.) and 12 patients over 26 years (12.4 +/- .07 mm.) was not statistically significant. Only two of the nine younger patients had left ventricular wall thickness greater than normal compared to eight of the 12 older patients. The mean left ventricular shortening fraction of 22 hemizygous patients was normal. One hemizygote had echocardiographic evidence of mitral valve prolapse. Four of the seven heterozygotes had normal echocardiograms. Among the other three, one had increased left ventricular wall thickness, a second had disproportionate ventricular septal thickness, and a third had both abnormalities. The echocardiographic aortic root size was normal in each heterozygote. Abnormal echocardiographic findings were more common in older hemizygous patients, a distribution similar to that of the age of onset of cardiac dysfunction. Increased left ventricular wall thickness probably reflects glycosphingolipid deposition in the myocardium. Dilatation of the aortic root may result from degenerative changes of the aortic media. Abnormalities of mitral valve echoes were uncommon.

Anatomic causes of pulmonary stenosis in complete transposition.

Among 166 specimens with classical complete transposition, pulmonary or subpulmonary stenosis was present in 22 cases. The bases for obstruction were pulmonary valvular stenosis (one case), membranous subpulmonary stenosis (nine cases), anomalous attachment of the mitral valve to the ventricular septum (five cases) and combinations of causes (seven cases). Conditions contributing to combinations of causes included the above, in addition to accessory mitral or pulmonary valvular tissue and herniation of a tricuspid valvular pouch through a related ventricular septal defect. In addition to the 166 cases mentioned, our collection contained six cases of atypical complete transposition characterized by a conus being present in the each ventricel. In three of these six, subpulmonary stenosis was present and caused by a narrow inlet to the left ventricular conus.

Coronary arterial origin in persistent truncus arteriosus.

Specimens of heart from 30 subjects with persistent truncus arteriosus were studied for the nature and sites of coronary arterial origin. These factors were related to the sinuses of the truncus valve. Bicuspid truncal valve was observed in six cases (20%) and tricuspid in 21 cases (70%). Single coronary artery was observed in four cases (three with tricuspid and one with quadricuspid truncal valves). In three other cases the coronary arteries arose separately but near one another. There was a strong tendency for the left coronary artery to arise from a more posterior level than it does normally from the aorta. It was common for the posterior descending artery to arise from the left circumflex artery. This arrangement was noted in eight of 25 cases (32%) with single posterior descending coronary artery. In five other cases, two posterior descending arteries were present, one arising from the left circumflex and the other from the right coronary artery.

Non-specific aorto-arteritis (Takayasu's disease) in children

Digital subtraction panaorto-arteriography was performed in 32 consecutive children (21 females, mean age 10.8 years) with non-specific aorto-arteritis to assess digital subtraction angiography (DSA) in imaging these children and to study the patterns of involvement in the Indian sub-continent. Diagnostic quality DSA images were obtained in 21 out of 27 intravenous and nine out of 11 intra-arterial studies. Obstructive lesions were present in all the patients and commonly involved the abdominal aorta (24 patients) and renal arteries (20 patients). Aneurysms were seen in five patients and predominantly involved the descending thoracic aorta. Pulmonary artery involvement was uncommon (five out of 20 patients) and clinically silent. Based on clinical and angiographic features, percutaneous transluminal angioplasty was performed for the management of uncontrolled hypertension in eight patients (10 lesions). Initial success was obtained in eight procedures (80%). Re-stenosis occurred after 5.5 months in one patient, but was successfully re-dilated. The follow-up period ranged between 5 and 16 months (mean 9 months). Long-term efficacy of transluminal angioplasty in the management of these children is awaited.

Coronary Artery Fistulas in Pulmonary Atresia and Ventricular Septal Defect

Pulmonary atresia with ventricular septal defect is an anomaly with highly variable anatomy. Rarely, a coronary artery-to-pulmonary artery fistula may contribute to pulmonary blood flow. Since 1996, we have treated 4 patients with coronary-pulmonary fistula associated with pulmonary atresia and ventricular septal defect. Two fistulas originated from the left coronary, one from the right coronary, and one from a right-sided solitary coronary system. All terminated in the main pulmonary artery, which was adequate in all cases. The fistulas were managed by direct internal closure. Total intracardiac repair was then accomplished in all patients at the same sitting. There was one death. In children with favorable anatomy, direct closure of the fistula from the pulmonary artery is adequate and allows single-stage intracardiac repair.

Intermediate and long-term followup of percutaneous device closure of fossa ovalis atrial septal defect by the Amplatzer septal occluder in a cohort of 529 patients

Objectives: The aim of present study is to analyze the intermediate and long-term follow up results of percutaneous closure of fossa ovalis atrial septal defect (ASD) with Amplatzer septal occluder (ASO) in a large cohort of patients including children and adults. Methods: Between May 1998 and July 2008, 529 patients (age group 2-77 years, median 28 years) underwent successful device closure with an ASO at single tertiary referral cardiac center in India.. This was out of an attempted 543 cases. The procedure was carried out in catheterization laboratory under transesophageal echocardiographic and fluoroscopy guidance. The mean size of ASD was 20 mm (7-40 mm) while size of septal occluder was 10-40 mm (mean 24 mm). Two devices were deployed in four patients. Three patients developed transitory pulmonary edema in immediate postprocedure period requiring ICU care for 48 hrs. All patients were advised for Aspirin (3-5 mg/kg, maximum 150 mg) once daily for 6 months. In patients with device 30 mm or larger, Clopidogril ( 75 mg once daily) was given for 3 months in addition to Aspirin. Clinical evaluation, echocardiogram were done on 3 months, 6 months and then at 1, 3, 5, 7 and 10 years of follow up. Transesophageal echocardiography (TEE) was performed in case of any doubt on clinical evaluation or on transthoracic echocardiography (n=10). Results: Followup data is available for 496 patients (93.7%). Followup period is from 12 months to 120 months (median 56 months). On followup, device was in position in all patients, no residual shunt and no evidence of thrombosis. Interventricular septal motion normalized on day of procedure in 89% patients, in 6% over 3 months while flat septal motion persisted in 5% (n=25, all in age group > 40 years) of cases, though right ventricular dilatation persisted in 10% (n=50, age more than 40 years) of patients. Symptom-free survival was 96.7 % (480/496) in patients who came for followup. Only one 68 year old patient with preexistent tricuspid regurgitation developed congestive heart failure, and one patient (58 years old) had a history of hemiparesis after 1 year of device on telephonic interview. Ten patients were in atrial fibrillation (AF) before the procedure and remained in AF on followup. Conclusions: Our study showed that percutaneous closure of fossa ovalis ASD is a safe and effective procedure on intermediate and long-term followup in both the children as well as adults.both. Technical factors during the procedure and proper follow up are important. Our single centre intermediate and long term experience in a large number of patients support the use of device closure as an alternative to surgery.

Hypocalcemic cardiomyopathy presenting as cardiogenic shock

Hypocalcemia is a less known but treatable cause for dilated cardiomyopathy, leading to severe heart failure in children. Cardiogenic shock related to hypocalcemic cardiomyopathy is a rare event. We describe 5 infants presenting with cardiogenic shock over 3 years, who were found to have severe hypocalcemia as a sole cause of myocardial dysfunction. The patients responded to calcium and vitamin D supplementation promptly and left ventricular systolic function normalized within months of treatment. In any case of cardiogenic shock, hypocalcemia should be included in the differential diagnosis and must be investigated.

Congenital unilateral pulmonary venous atresia with pulmonary veno-occlusive disease in contralateral lung: An unusual association

SummaryA patient presenting with the rare association of congenital unilateral pulmonary venous atresia in one lung and pulmonary veno-occlusive disease in the other is described. The patient first presented at the age of 3 ½ years with anemia, hemoptysis, and pulmonary hypertension. After cardiac catheterization and angiocardiography, a diagnosis of atresia of the left pulmonary veins was made for which left pneumonectomy was done. Four years later the patient presented with right-sided congestive failure and radiologic evidence of right-sided pulmonary edema from which death resulted. At autopsy, the right lung showed changes of pulmonary veno-occlusive disease, while the major veins were not involved.

Response of different grades of pulmonary artery hypertension to balloon mitral valvuloplasty.

fore, they speculated about synergistic effects of plasminogen and adverse alterations of lipid metabolism on cardiovascular risk. We have also found a weak correlation between markers of lipid metabolism and plasminogen; however, adjustment for high-density lipoprotein cholesterol did not significantly change the odds ratio. Additional adjustment for lipoprotein(a), which may compete with plasminogen for binding to lysine residues because of its structural homology,11 also did not significantly change the odds ratio. Although the main result is a negative one, our study had a power of 80% to detect an odds ratio of 1.65 ( 0.05) (associated with quartiles 4 vs 1).

Parastemal cross-sectional echocardiographic determination of aortic arch situs: A new approach

Abstract Determination of the situs of the aortic arch is extremely important in the complete evaluation of infants with congenital heart disease, as well as in infants with esophageal atresia and tracheoesophageal fistula in whom the thoracotomy incision is performed contralateral to the aortic arch. 1 Definitive determination of the side of the aortic arch can be made angiographically, but this is invasive and requires transport of the infant. The thoracic roentgenogram is not always reliable in determining aortic arch situs, particularly in newborns. Computed tomography of the thorax has also been used, 2 but tomographs are not portable. Evaluation of the aortic arch from the suprasternal notch using cardiac ultrasound has been reported. 3–6 In most studies, the sector orientation required for a long-axis image of the arch was used to distinguish situs. 3–5 The position of the descending thoracic aorta also has been used to infer the side of the aortic arch. 4–5 These techniques are subjective and depend on the skill of the operator. They do not provide for a descending aorta contralateral to the aortic arch with retroesophageal segment, nor for cardiac malpositions. The relative positions of the esophagus and aortic arch have also been used to identify the side of the arch, 6 but this technique is not useful with esophageal atresia. We therefore devised a new technique to evaluate aortic arch situs from a parasternal short-axis approach.