Defect Ostium Secundum Type Research Articles

Congenital heart defects in molecularly proven Kabuki syndrome patients.

The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to 80%. Between January 2012 and December 2015, 28 patients had a molecularly proven diagnosis of Kabuki syndrome. Pathogenic variants in KMT2D (MLL2) were detected in 27 patients, and in KDM6A gene in one. CHD was diagnosed in 19/27 (70%) patients with KMT2D (MLL2) variant, while the single patient with KDM6A change had a normal heart. The anatomic types among patients with CHD included aortic coarctation (4/19 = 21%) alone or associated with an additional CHD, bicuspid aortic valve (4/19 = 21%) alone or associated with an additional CHD, perimembranous subaortic ventricular septal defect (3/19 = 16%), atrial septal defect ostium secundum type (3/19 = 16%), conotruncal heart defects (3/19 = 16%). Additional CHDs diagnosed in single patients included aortic dilatation with mitral anomaly and hypoplastic left heart syndrome. We also reviewed CHDs in patients with a molecular diagnosis of Kabuki syndrome reported in the literature. In conclusion, a CHD is detected in 70% of patients with KMT2D (MLL2) pathogenic variants, most commonly left-sided obstructive lesions, including multiple left-sided obstructions similar to those observed in the spectrum of the Shone complex, and septal defects. Clinical management of Kabuki syndrome should include echocardiogram at the time of diagnosis, with particular attention to left-sided obstructive lesions and mitral anomalies, and annual monitoring for aortic arch dilatation.

Anaesthetic management of a patient with Atrial Septal Defect with Pulmonary Hypertension posted for Total Abdominal Hysterectomy: a Case Report

An asymptomatic 52 year old lady with Atrial Septal Defect of Ostium Secundum type with mild Pulmonary Hypertension was admitted in our hospital with complains of menorrhagia. After a thorough pre- operative evaluation, adequate preparation she underwent total abdominal hysterectomy under combined epidural and general anaesthesia. By providing proper intraoperative and postoperative care, patient was managed without any complication and was discharged home within a week. 1 . Based on the portion of atrial septum that has failed to develop normally, ASDs are anatomically classified into four types: ostium secundum (85%), ostium primum (10%), sinus venosus(5%), and coronary sinus defects(rare). Spontaneous closure occurs by 18 months in almost all patients born with ASDs 8mm rarely close spontaneously and may require surgery later in life 2 . The majority of ASDs are detected in childhood although a significant minority is only diagnosed in adult life. Initially right ventricular compliance is substantially greater than the left ventricle and this is associated with the development of a left-to-right shunt. Pulmonary blood flow is increased and pulmonary hypertension develops with increasing age. A consequence of these physiological changes is dilatation of both left and right atria, the right ventricle and the pulmonary arteries in order to accommodate the increased blood volume. Ultimately either the right ventricle fails, or right ventricular compliance falls, resulting in a reduction in the magnitude of shunting, or even flow reversal 3 . Presentation depends upon the magnitude of the left to right shunt. Effort dyspnea is seen in 30% of patients by the third decade and more than 75% of patients by the fifth decade. Atrial arrhythmias (atrial fibrillation and flutter) are common and are secondary to atrial dilatation. Clinical examination reveal fixed splitting of the second heart sound coupled with a pulmonary flow murmur. The classically described electrocardiogram of an ASD is right bundle branch block (RBBB) and axis deviation (right for secundum and left for primum) 4 . Complications of ASD in adults include: paradoxic emboli, effort dyspnea, atrial tachyarrhythmia, right sided heart failure with pregnancy, pulmonary hypertension and mitral insufficiency 5 .

Unilateral Hypoplastic Kidney in a Case of Holt-Oram Syndrome

Holt-Oram syndrome (HOS) is characterised by skeletal abnormalities of the upper limb & congenital cardiac defects. Here we report a case of one day old male baby with skeletal abnormalities of forearms and hands, atrial septal defect of ostium secundum type and unilateral hypoplastic kidney. Till date, other associated anomalies like extra-hepatic portal hypertension, renal artery malformations etc have been reported with Holt-Oram syndrome, but it is the first case to be reported in association with hypoplastic kidney. DOI: http://dx.doi.org/10.3126/jnps.v33i1.7127 J Nepal Paediatr Soc. 2013;33(1):77-79

Electroconvulsive Therapy in the Presence of Atrial Septal Defect

There is limited literature on the use of electroconvulsive therapy in patient with congenital heart defect. We present a case of a 24-year-old woman with diagnosis of persistent delusion disorder with depression and congenital heart defect of ostium secundum type treated successfully with a course of electroconvulsive therapies.

Síndrome de Holt-Oram: caracterización de una nueva mutación

Cardiomyelic syndromes encompass congenital heart disease and skeletal malformations of the upper limbs and are related to mutations in transcription factors with T-Box domains. Holt-Oram syndrome is caused by a dominant mutation in the TBX5 gene that alters the three-dimensional structure of the protein and its DNA binding function. Several point mutations and deletions in TBX5 have been reported in patients with the Holt-Oram syndrome phenotype. The proband was a boy with a large atrial septal defect ostium secundum type and a ventricular septal defect, diagnosed by clinical findings (heart murmur) and echocardiography. He also presented slightly hypoplastic thumbs with distal bilateral placement and an implantation index of 0.19 (compared with an average of 0.50 for his gestational age at birth). The boy was referred to the department of medical genetics to rule out 22q11.2 microdeletion syndrome. Karyotype and fluorescence in situ hybridization at locus D22S75 were both normal. Because of his clinical findings, molecular study for Holt-Oram syndrome was indicated, leading to the finding of a mutation at intron 7 of TBX5, probably producing a splicing alteration of the gene and resulting in a protein truncated at its C-terminal end. The proband's parents presented the wild type sequence of the gene, thus indicating that the mutation was produced de novo, although a possible germinal mosaicism in the parents could not be ruled out. Holt-Oram syndrome is the most frequent cause of cardiomyelic syndrome. All children with heart malformations and abnormalities of the upper limbs such as absent, hypoplastic, distally placed or triphalangic thumbs should undergo molecular studies for this syndrome.

Isometric contraction and relaxation times of right and left ventricles in normal subjects and in patients with right ventricular overloading measured with bidirectional echocardiography.

With the use of bidirectional echocardiography, the isometric contraction (ICT) and relaxation times (IRT) of both ventricles were measured in 14 normal subjects (N), 6 cases with right ventricular (RV) diastolic overloading (DO), and 5 cases with RV systolic overloading (SO). The RVDO group consisted of patients with atrial septal defect of ostium secundum type who had large left-to-right shunting, and the RVSO group those with pulmonary hypertension of various origins. The mean ICT and IRT in N were 28.5 +/- 4.8 and 43.8 +/- 1.7 msec for RV, and 43.3 +/- 5.6 and 60.9 +/- 9.0 msec for left ventricle (LV), respectively. The RVDO group showed no significant change in the mean ICT and IRT of RV (29.7 +/- 4.6 and 54.3 +/- 11.8 msec, respectively), but significantly greater means of ICT and IRT of LV (58.5 +/- 9.5 and 83.6 +/- 14.1 msec, respectively. In the RVSO group, the mean ICT and IRT were 51.0 +/- 4.1 and 86.8 +/- 8.2 msec for RV, and 72.4 +/- 12.2 and 116.0 +/- 20.4 msec for LV, respectively. These values were all significantly greater than the means for both N and RVDO groups, except that the mean ICT of LV was insignificantly different between the RVDO and RVSO groups. It was noted that the intervals of LV tended to increase with the increasing intervals of RV, suggesting the changes in LV function secondarily due to RV overloading. It was concluded that the measurement of ICT and IRT of both ventricles is of clinical value for evaluation of overall cardiac function in the patients with RV overloading.

Prolongation of Q-I interval in atrial septal defect.

The present paper is concerned with Q-I interval and factors affecting this interval in 55 patients with atrial septal defect of ostium secundum type (ASD) in comparison with the interval in 60 healthy individuals and 37 patients with mitral stenosis. The results obtained are as follows: 1) Q-I interval was significantly greater in patients with ASD than in healthy individuals, and less than in patients with mitral stenosis. 2) The Q-I interval in ASD showed significant correlations with size of septal defect and age, but no correlation with other variables such as heart rate, blood pressure, and right heart catheterization data. 3) The interval was significantly shortened following the surgical closure of ASD. These findings suggest that left-to-right shunt at atrial level leads to prolongation of Q-I interval. Mechanisms for these results were discussed.

Interaction of chronic hypoxia of moderate altitude on pulmonary hypertension complicating defect of the atrial septum.

PULMONARY hypertension is a serious and relatively frequent complication of the ostiumsecundum type of defect of the atrial septum.1 2 3 4 It increases the symptoms and disability of cardio-respiratory impairment and substantially raises the mortality for surgical correction of this defect. Recent evidence indicates that prolonged hypoxia of high altitude elevates pulmonary arterial pressure in man and other mammals5 6 7; the possibility that even slight hypoxia, associated with exposure to moderate altitude, affects pulmonary arterial pressures has not been systematically investigated to our knowledge. Because pulmonary hypertension, under acute hypoxic conditions, probably represents the consequences of vasoconstriction, and because pulmonary vascular engorgement . . .