Biventricular non-compaction cardiomyopathy and tricuspid hypoplasia in a novel non-POU domain-containing octamer-binding gene variant

2022 ◽  
pp. 1-5
Author(s):  
Sanam Safi ◽  
Stephen P. Sanders ◽  
Melissa Zhao ◽  
Chrystalle Katte Carreon

Abstract A maternally inherited novel pathogenic non-POU domain-containing octamer-binding gene variant c.767G>T, p.R256I [NM_001145408], manifested in a male infant as dilated cardiomyopathy with severe left ventricular dysfunction and dilation, biventricular non-compaction, tricuspid hypoplasia, and hydrocephaly. To the best of our knowledge, no previous non-POU domain-containing octamer-binding gene variants with biventricular non-compaction have been associated with tricuspid valve hypoplasia. Hence, this case introduces a new pathogenic variant observed in the non-POU domain-containing octamer-binding gene and adds to the range of cardiac phenotypes identified in non-POU domain-containing octamer-binding gene variants.

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
Z Y Vasquez-Ortiz ◽  
R Gonzalez-Varela ◽  
J Navarrete Garcia ◽  
P Hernandez-Reyes ◽  
J Oseguera Moguel

Abstract Introduction Peripartum cardiomyopathy (MPP) is a type of cardiomyopathy characterized by heart failure secondary to left ventricular systolic dysfunction during the last month of pregnancy or in the first 5 months of puerperium without other apparent etiology, being a diagnosis of exclusion. The left ventricle is not always dilated, but the fraction of left ventricular ejection is always less than 45%. The natural history and prognosis of the disease is diverse. Ventricular dysfunction is usually transient and normalizes at 3-6 months in up to 60% of cases. Mortality is variable, with reports ranging from 0 to 28%, affecting more certain ethnic groups, in patients with persistent ventricular dysfunction, evidence of the efficacy of a specific treatment beyond optimal medical therapy for heart failure is limited. Clinical case We present the clinical case of a 22-year-old woman, who was referred to the our institute with an acute heart failure syndrome two months after the end of her first pregnancy. On admission to the hospital, dilated cardiomyopathy and intracavitary thrombi were documented by transthoracic echocardiography (TTE) with dilatation and eccentric left ventricular hypertrophy, generalized hypokinesia and mobile thrombi inside, the largest of 34x16mm with severe left ventricular dysfunction 3D LVEF of 28% and global longitudinal strain (GLS) of -5.8%, pulmonary hypertension and right ventricular dysfunction with severe functional tricuspid regurgitation. Other specific etiologies of dilated cardiomyopathy were investigated and discarded, finally establishing the diagnosis of peripartum cardiomyopathy. The support management was carried with inotropic, diuretic, supplemental oxygen and parenteral anticoagulation was initiated, with gradual improvement. Subsequently, optimal medical treatment was started for heart failure, cabergoline and vitamin K antagonist. He was released to his home on II NYHA. Two months later she presented with progressive dyspnea, increased abdominal perimeter. On March 14, 2018, a TTE was performed, with absence of improvement in conventional and advanced ventricular function parameters. Apical thrombi of smaller size compared with previous study, severe left ventricular dysfunction, which worsened with respect to the previous echocardiogram, with 3D LVEF of 25% and GLS 3.7% Discussion We present the case of a woman with MPP, in whom persistent left ventricular dysfunction after 6 months of diagnosis, although cabergoline scheme in addition to optimal medical management for heart failure, with no improvement. In patients who dont present an adequate response to the management, it is necessary to consider enlisting for heart transplantation. Abstract P626 Figure. TTE, severe ventricular dysfunction


1993 ◽  
Vol 3 (1) ◽  
pp. 27-33 ◽  
Author(s):  
Steven A. Webber ◽  
George G. S. Sandor ◽  
Duncan Farquharson ◽  
Glenn P. Taylor ◽  
Sue Jamieson

SummaryTo identify the echocardiographic features and natural history of dilated cardiomyopathy in fetal life, we reviewed records of all fetal echocardiograms over the 10 year period 1980–1989 to identify cases of dilated cardiomyopathy without left ventricular outflow obstruction and conducted a retrospective review of the fetal echocardiograms and clinical course of those fetuses with dilated cardiomyopathy. In addition, all fetal losses, perinatal deaths and live-born infants presenting with dilated cardiomyopathy in the first seven days of life were identified from the British Columbia Pediatric Cardiovascular Pathology Registry and from inpatient records. The pathological findings and outcome for this group were also reviewed. Marked left ventricular dilatation and dysfunction without left ventricular outflow obstruction was diagnosed in five of 1,158 fetuses undergoing feta lechocardiography. These five fetuses were correctly distinguished from two others with critical aortic stenosis and severe left ventricular dysfunction. Two of the five fetuses had additional right ventricular dysfunction and dilatation and developed hydrops, while the remaining three with isolated severe left ventricular dysfunction did not and showed normal somatic growth. All fetuses were live-born with spontaneous labour occurring in four of five cases at a mean gestational age of 36.5 weeks. Four of the five infants died, with three deaths occurring in the first week of life. During the same 10 year period, two of 2450 autopsied stillbirths (both hydropic) were diagnosed with dilated cardiomyopathy. An additional 15 neonates (including the five identified by fetal echocardiography) were diagnosed in the first week of life with dilated cardiomyopathy, congenital myocarditis or endocardial fibroelastosis. Four were hydropic (all with associated right ventricular dysfunction). Only three of the 15 survive. Fetal echocardiography can accurately distinguish dilated cardiomyopathy from left ventricular outflow obstruction. In the absence of right-sided disease or premature closure of the oval fossa, severe left ventricular dysfunction is well tolerated in utero. The prognosis for fetal dilated cardiomyopathy is very poor.


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