Congenital absence of a left-sided pericardium.
Ontology highlight
ABSTRACT:
SUBMITTER: Poskaite P
PROVIDER: S-EPMC8637791 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Background:Absence of the pericardium is a rare congenital defect with an approximate incidence of <1/10 000. We review a case of complete pericardial agenesis in a symptomatic patient with gross cardiac mobility, for which pericardial reconstruction was undertaken successfully. Case summary:A 24-year-old otherwise fit and well patient, with debilitating exertional chest pain was found to have complete pericardial agenesis on the left side and on the diaphragmatic surface. There was gross cardiac mobility demonstrated on cardiac magnetic resonance imaging. His pericardium was reconstructed surgically using Gore-tex® patches. There were no complications, and the patient was discharged 8?days later. Three months later at follow-up, the patient required no analgesia and has had complete resolution of his chest pains. Discussion:Congenital hemi-pericardial agenesis is a very rare condition which often remains undetected due to its asymptomatic nature. It is important to consider this as a differential diagnosis of exertional chest pains. Cardiac magnetic resonance imaging remains the investigation of gold standard. There is no consensus on whether surgical intervention in symptomatic or asymptomatic patients has any prognostic value. However, we have demonstrated that by reconstructing the pericardium in a highly symptomatic patient, there has been a resolution in size of a previously dilated right ventricle and most importantly an improvement in quality of life.
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Project description:Highlights•Congenitally absent pericardium (CAP) is rare and usually diagnosed incidentally.•Although usually asymptomatic, CAP can present with life-threatening complications.•Proper diagnosis requires a high suspicion and focused multimodality imaging.•Asymptomatic patients and those with low risk features are managed conservatively.•Surgery is reserved for those with refractory symptoms and/or high-risk features.
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Project description:A 75-year-old male with a cardiopulmonary history presented with chest pain and dyspnea. He was hypertensive. An electrocardiogram showed paced rhythm. A high-sensitivity test showed his troponin T level was minimally elevated. Coronary angiography results were unremarkable. Chest radiography revealed an elevated cardiac apex, previously attributed to cardiomegaly. Echocardiography revealed a teardrop shaped heart in a nonstandard apical window. Computed tomography confirmed congenital absence of the left pericardium. Challenges of recognizing a rare condition are highlighted. Congenital absence of the pericardium, an often benign but rarely catastrophic condition, can masquerade for decades before diagnosis, underlining the importance of clinical vigilance in evaluating common cardiac complaints.
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Project description:ObjectiveTo examine the association between prenatal stomach position (SP) grade and stomach volume (SV) and the need for pulmonary hypertension (PH) treatment after birth in prenatally diagnosed left-sided congenital diaphragmatic hernia (CDH), live born >34 weeks.MethodsIn retrospect, SP grade and SV were determined in fetuses with isolated left-sided CDH from 19 weeks gestational age (GA) onwards at three different time periods (≤24 weeks' GA: US1, 24-30 weeks' GA: US2; ≥30 weeks' GA: US3). Primary outcome was need for treatment of PH after birth. Secondary analyses included the predictive value of SP and SV for other respiratory outcomes and postnatal defect size.ResultsA total of 101 fetuses were included. SP grade was significantly associated with need for treatment of PH (US1, US2, and US3: p < 0.02). Also, prenatal SP grade was positively associated with defect size and development of chronic lung disease (CLD) in survivors. No association was found between SV and respiratory morbidities or postnatal defect size.ConclusionSP grade in left-sided CDH fetuses is associated with an increased need for PH treatment, a larger postnatal defect size and CLD in survivors. We consider SP determination a valuable contribution to the prenatal assessment of left-sided CDH.
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Project description:BackgroundCongenital heart defects (CHD) are structural defects of the heart affecting approximately 1% of newborns. They exhibit low penetrance and non-Mendelian patterns of inheritance as varied and complex traits. While genetic factors are known to play an important role in the development of CHD, the specific genetics remain unknown for the majority of patients. To elucidate the underlying genetic risk, we performed a genome wide association study (GWAS) of CHDs in general and specific CHD subgroups using the FinnGen Release 10 (R10) (N > 393,000), followed by functional fine-mapping through eQTL and co-localization analyses using the GTEx database.ResultsWe discovered three genome-wide significant loci associated with general CHD. Two of them were located in chromosome 17: 17q21.32 (rs2316327, intronic: LRRC37A2, Odds ratio (OR) [95% Confidence Interval (CI)] = 1.17[1.12-1.23], p = 1.5 × 10-9) and 17q25.3 (rs1293973611, nearest: BAHCC1, OR[95%CI] = 4.48[2.80-7.17], p = 7.0 × 10-10), respectively, and in addition to general CHD, the rs1293973611 locus was associated with the septal defect subtype. The third locus was in band 1p21.2 (rs35046143, nearest: PALMD, OR[95%CI] = 1.15[1.09-1.21], p = 7.1 × 10-9), and it was associated with general CHD and left-sided lesions. In the subgroup analysis, two additional loci were associated with septal defects (rs75230966 and rs6824295), and one with left-sided lesions (rs1305393195). In the eQTL analysis the variants rs2316327 (general CHD), and rs75230966 (septal defects) both located in 17q21.32 (with a LD r2 of 0.41) were both predicted to significantly associate with the expression of WNT9B in the atrial appendage tissue category. This effect was further confirmed by co-localization analysis, which also implicated WNT3 expression in the atrial appendage. A meta-analysis of general CHD together with the UK Biobank (combined N = 881,678) provided a different genome-wide significant locus in LRRC37A2; rs16941382 (OR[95%CI] = 1.15[1.11-1.20], p = 1.5 × 10-9) which is in significant LD with rs2316327.ConclusionsOur results of general CHD and different CHD subcategories identified a complex risk locus on chromosome 17 near BAHCC1 and LRRC37A2, interacting with the genes WNT9B, WNT3 and MYL4, may constitute potential novel CHD risk associated loci, warranting future experimental tests to determine their role.
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