Arun Gopalakrishnan

Fanconi–Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene

Fanconi–Bickel syndrome is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction and impaired utilization of glucose and galactose. Most cases have been reported from Europe, Japan, Turkey and the Mediterranean belt. We report a 3-year-old boy from southern India who presented with doll-like facies, florid rickets, massive hepatomegaly, growth retardation, renomegaly and laboratory evidence of proximal renal tubular dysfunction. Liver biopsy demonstrated evidence of glycogenosis. Direct sequencing of genomic DNA confirmed a diagnosis of Fanconi–Bickel syndrome, revealing a G-to-A substitution at position −1 of the splicing acceptor site in intron 1 of the GLUT2 gene in a homozygous pattern (c.16-1G>A or IVS1-1G>A). This novel mutation has not been described in earlier studies. The child was treated with oral potassium citrate, oral phosphorus supplementation, and alpha-calcitriol, on which metabolic derangements were corrected.

Left ventricular regression after balloon atrial septostomy in d-transposition of the great arteries

OBJECTIVES Balloon atrial septostomy (BAS) is an effective palliative procedure in children with transposition of the great arteries and poor intercirculatory mixing. While the subpulmonary left ventricle (LV) is known to regress with time in these newborns due to the declining afterload, it has not been studied how it behaves following BAS and a consequent decrease in preload. The study was designed to examine the effects of BAS on the LV in infants with simple d-transposition of the great arteries by serial 2D echocardiographic monitoring. METHODS This was a prospective echocardiographic follow-up study of all consecutive children with simple d-transposition of the great arteries who underwent BAS for restrictive interatrial communication and oxygen saturation below 75% between January 2014 and June 2015. Left ventricular mass estimation was done by M-mode transthoracic echocardiography before balloon septostomy and serially on follow-up till surgery. RESULTS The median age of the 25 children studied was 4 days (1-95 days) when they underwent BAS. Twenty patients underwent arterial switch operation at a mean of 9 days from balloon septostomy. The mean baseline left ventricular mass was 47.9 g/m2, which decreased to 38.5, 36.2, 32.1, 32.4, 25.7 and 25.2 g/m2 on Days 1, 3, 6, 9, 12 and 15, respectively. The left ventricular mass decreased by 1.5 g/m2 every day during the first 2 weeks following balloon septostomy adjusted for the age of the child in days. Children who underwent BAS beyond 3 weeks of life had faster LV regression than those who underwent the procedure earlier (unstandardized regression coefficient β 0.892, P < 0.001). CONCLUSIONS BAS is associated with accelerated regression of the LV in infants with simple d-transposition of the great arteries in the first 2 weeks after the procedure. Regression of the LV is faster in children who underwent BAS after 3 weeks of age.

The outcome of mitral regurgitation after the repair of anomalous left coronary artery from the pulmonary artery in infants and older children

OBJECTIVES Mitral regurgitation (MR) in the majority of infants with an anomalous left coronary artery from the pulmonary artery (ALCAPA) has been shown to improve without concomitant mitral valve repair. However, the outcome of MR in older children with ALCAPA is unclear. The purpose of this study was to compare the outcome of MR following the ALCAPA repair in infants and older children. METHODS Forty-six patients (34 were younger than 1 year and 12 were aged 1-12 years) underwent the repair for ALCAPA in our institution from June 2006 to June 2016. Baseline and follow-up data were collected from records, and the latest echocardiogram was performed for all surviving patients from June 2017 to August 2017. RESULTS Of the 34 infants, 82% had moderate-to-severe ventricular dysfunction, and 47% had significant MR at presentation. Fifty-seven percent of the older age group had MR, though none of them had ventricular dysfunction. Two infants and 3 older children underwent concomitant mitral valve repair. There were 2 early deaths in the infantile group. On follow-up, ventricular function normalized in 88% of infants; 12.5% of the infants had moderate-to-severe MR on follow-up, and 50% of the older children had moderate-to-severe MR on follow-up. CONCLUSIONS The ALCAPA repair has excellent survival outcomes in all age groups. MR improves in the majority of infants with revascularization alone. MR worsens or persists in a significant number of older children following the ALCAPA repair, and they are more likely to require reinterventions for the mitral valve on follow-up.

Radiofrequency ablation of premature ventricular contractions originating from uncommon sites of right ventricle

Premature Ventricular Contraction (PVC)/ventricular tachycardia (VT) with left bundle branch block (LBBB) morphology and inferior axis has been described classically to originate from the right ventricular outflow tract (RVOT). Some uncommon sites of idiopathic ventricular arrhythmia (VA) origins have been revealed including tricuspid annulus (TA) and right ventricular (RV) inflow free wall region. We present a series of two cases who have undergone electrophysiological study and successful radiofrequency ablation of frequent monomorphic PVCs with LBBB pattern originating from relatively uncommon sites of RV – TA and RV inflow free wall region.

Immediate and late clinical outcomes of balloon mitral valvotmy based on immediate post bmv mitral valve area & percentage gain in mitral valve area – A tertiary centre study

Aim The aim of the study was to compare the immediate and late clinical outcomes of balloon mitral valvotomy (BMV), based on the immediate post-BMV valve area and percentage gain in mitral valve area (MVA). Methods Clinical data of 818 consecutive patients who underwent BMV in our institute from 2000 to 2008 were analyzed retrospectively. They were categorized into three groups based on the postprocedural MVA and percentage gain in valve area—(1) 50% gain with final MVA <1.5 cm2, group 1 (fair result); (2) final MVA of ≥1.5 cm2, group 2 (good result); and (3) <50% gain with final MVA <1.5 cm2, group 3 (suboptimal result). Results The baseline characteristics of the three patient groups were clearly distinct. Those who had <50% gain with final MVA <1.5 cm2 were older and had higher incidence of atrial fibrillation (17 [22.4%]), heart failure (32 [42.1%]), pulmonary artery hypertension (45 [59.2%]), and significantly deformed valves (39 [51.3%]) at baseline. At a mean follow-up period of 5.64 ± 3.84 years, incidence of redo BMV (23 [4.6%]) and mitral valve replacement (17 [3.4%]) was higher in them than those with immediate MVA ≥1.5 cm2. Among those with MVA <1.5 cm2, events on follow-up were similar irrespective of the percentage gain in MVA. Conclusions Immediate postprocedural MVA of ≥1.5 cm2, and not percentage gain, predicts better long-term clinical outcomes after BMV. Patients who had less than 50% gain with final MVA <1.5 cm2 represent high-risk population with advanced mitral valve disease and comorbidities.

Haemodynamic challenge in non-restrictive atrial septal defect

A 55-year-old hypertensive man presented with history of New York Heart Association class II exertional dyspnoea for 3 years. The arterial pulse was normal. His blood pressure was 180/100 mm Hg. Jugular venous waveforms revealed prominent ‘a waves’ at the root of neck though the mean pressure appeared to be normal. A wide fixed split second heart sound and mid-systolic murmur at the pulmonary area were noted. A soft third heart sound and flow murmur at the left lower sternal border suggested significant pre-tricuspid left-to-right shunt. Echocardiography showed a 32 mm ostium secundum atrial septal defect (ASD) with deficient rims. Volume overload of the right atrium and right ventricle was noted. Left ventricular (LV) systolic function was normal with no regional wall motion abnormalities. Pulmonary venous return was normal. All cardiac valves were normal and competent. …

Left atrial outflow obstruction in double-outlet right atrium:

We describe an unusual case of partial atrioventricular septal defect with malalignment of the septum primum to the left atrium with respect to the ventricular septum, committing the tricuspid valve to both ventricles (double-outlet right atrium). Abnormal attachment of the septum primum to the lateral aspect of mitral annulus resulted in left atrial outflow obstruction. The patient underwent successful surgical correction.

Respirophasic desaturation in multivalvar rheumatic heart disease

Abstract A 28-year-old lady with rheumatic heart disease presented with dyspnoea and overt right heart failure and was admitted for stabilization. She had respirophasic desaturation predominantly during inspiration. Trans-oesophageal echocardiography revealed the aetiology of the same and dictated the management strategy.

Partially Anomalous Pulmonary Venous Connection to Solitary and Persistent Left Superior Caval Vein in Usual Visceroatrial Arrangement

Although the occurrence of bilateral superior caval veins (SCVs) is not unusual, persistence of the left SCV with atretic right SCV is extremely uncommon in the setting of normal visceroatrial arrangement. We report such a case that was also associated with anomalous pulmonary venous connection of the right pulmonary veins to the solitary left SCV.

A rare variant of intracardiac total anomalous pulmonary venous connection

Total anomalous pulmonary venous connection (TAPVC) with direct connection of the pulmonary veins to the morphologically right atrium is exceedingly rare other than in the setting of isomerism of the right atrial appendages. We present an interesting case of TAPVC in a patient with situs solitus that connected to the right atrium via a broad-mouthed common chamber.