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Left ventricular outflow tract obstruction: Uptake of familial cardiac screening and parental knowledge from a single tertiary care center.

J Genet Couns. 2019 08;28(4):779-789

Authors: Shikany AR, Parrott A, James J, Madueme P, Nicole Weaver K, Cassidy C, Khoury PR, Miller EM

Abstract
Left ventricular outflow tract obstruction (LVOTO) malformations exhibit higher heritability than other cardiac lesions and cardiac screening is encouraged for first-degree relatives. This study sought to determine the uptake of familial cardiac screening in families with an infant with an LVOTO and assess parental knowledge regarding genetics and heritability of LVOTO. A chart review of the period 2010-2015 identified 69 families who received genetic counseling regarding a diagnosis of LVOTO in an infant. Surveys assessing familial cardiac screening and parental knowledge were completed by a parent in 24 families (completion rate of 35%). Forty percent (36/89) of all at-risk first-degree family members completed cardiac screening. The presence of additional congenital malformations in the affected infant was the only significant factor reducing the uptake of familial cardiac screening (p = 0.003). The reported uptake of screening for subsequent at-risk pregnancies was 11/12 (92%) compared to 25/77 (32%) of living at-risk relatives. Survey respondents answered seven knowledge questions with an average score of 5.2 and all correctly identified that LVOTO can run in families. Uptake of familial cardiac screening is occurring in less than half of at-risk individuals, despite parents demonstrating basic knowledge and receiving genetic counseling. Follow-up counseling in the outpatient setting to review familial screening recommendations should be considered to increase uptake and optimize outcomes.

PMID: 30907979 [PubMed - indexed for MEDLINE]

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Spontaneous Coronary Artery Dissection in a Pregnant Woman Associated with Fetal Complication: A Case Report and Review of Literature.

Cardiovasc Revasc Med. 2019 Nov;20(11S):46-48

Authors: Ya'qoub L

Abstract
Spontaneous Coronary Artery Dissection (SCAD) is an important cause of Acute Coronary Syndrome (ACS), especially in pregnant women. SCAD has angiographic appearance that might mimic atherosclerotic coronary artery disease (CAD). SCAD in pregnancy can be associated with both maternal and fetal complications. The best management approach of such cases may be achieved by a multi-disciplinary team, including an obstetrician, an interventional cardiologist and a cardiothoracic surgeon. We present a very interesting case of SCAD involving the left anterior descending (LAD) artery with two different angiographic appearances in a pregnant woman which was associated with fetal heart deceleration requiring urgent cesarean section and later coronary artery bypass graft (CABG) surgery.

PMID: 31196795 [PubMed - indexed for MEDLINE]

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Risk of congenital heart diseases associated with NAT2 genetic polymorphisms and maternal polycyclic aromatic hydrocarbons exposure.

Prenat Diagn. 2019 10;39(11):968-975

Authors: Tao J, Li N, Liu Z, Qiu J, Deng Y, Li X, Chen M, Yu J, Zhu J, Yu P, Wang Y

Abstract
OBJECTIVE: N-Acetyltransferase 2 (NAT2) is a phase II xenobiotic-metabolizing enzyme participating in the detoxification of toxic arylamines and aromatic amines. The present study was designed to investigate whether maternal NAT2 genetic polymorphisms are associated with fetal susceptibility to congenital heart diseases (CHDs) and to assess whether the risk is modified by polycyclic aromatic hydrocarbons (PAHs) exposure.
METHODS: We conducted a hospital-based case-control study to investigate the association of NAT2 gene polymorphisms (rs1799930 G/A, rs1208 A/G, and rs1799931 G/A) and the combinations of PAHs exposure and genetic variants with the risk of CHDs. Three hundred fifty-seven mothers of CHDs fetuses and 270 control mothers were recruited. Logistic regression models for the risk of CHDs were applied to determine the effect of NAT2 polymorphisms, as well as gene-exposure interactions.
RESULTS: Our study did not demonstrate an association of maternal NAT2 genetic polymorphisms alone with CHDs occurrence. However, we found that certain genetic polymorphisms of NAT2 in the present of high PAHs exposure have a higher risk of CHDs.
CONCLUSION: Our study suggests that the risk of CHDs associated with maternal NAT2 gene polymorphisms is potentiated by PAHs exposure.

PMID: 31254350 [PubMed - indexed for MEDLINE]

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Flying the nest: are we doing enough to achieve successful transition in young people with congenital heart disease?

Heart. 2020 01;106(1):87-88

Authors: Reekie J

PMID: 31492700 [PubMed - indexed for MEDLINE]

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Current Review of Implantable Cardioverter Defibrillator Use in Patients With Left Ventricular Assist Device.

Curr Heart Fail Rep. 2019 12;16(6):229-239

Authors: Boulet J, Massie E, Mondésert B, Lamarche Y, Carrier M, Ducharme A

Abstract
PURPOSE OF REVIEW: While use of implantable cardioverter defibrillator (ICD) in patients with heart failure (HF) and reduced ejection fraction is recommended, their role in patients with left ventricular assist device (LVAD) remains controversial, especially with continuous flow (CF) devices.
RECENT FINDINGS: Ventricular arrhythmias (VA) in LVAD patients are frequent and associated with worse outcomes, especially postoperatively. Data on the role of ICDs in LVAD patients are scarce, based on case reports or small retrospective series. While the majority of LVAD patients currently have an ICD, it seems that some might not derive any benefit, with additional risks in terms of inappropriate shocks, psychological distress, and infections. Some CF-LVAD patients are at high risk of VA and hemodynamic collapse; under those circumstances, an ICD might provide benefits. A randomized-controlled trial of routine ICD implantation in CF-LVAD would be needed to clarify their impact on survival in low risk patients.

PMID: 31768918 [PubMed - indexed for MEDLINE]

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4D flow vs. 2D cardiac MRI for the evaluation of pulmonary regurgitation and ventricular volume in repaired tetralogy of Fallot: a retrospective case control study.

Int J Cardiovasc Imaging. 2020 Apr;36(4):657-669

Authors: Jacobs KG, Chan FP, Cheng JY, Vasanawala SS, Maskatia SA

Abstract
Lengthy exams and breath-holding limit the use of pediatric cardiac MRI (CMR). 3D time-resolved flow MRI (4DF) is a free-breathing, single-sequence exam that obtains magnitude (anatomic) and phase contrast (PC) data. We compare the accuracy of gadobenate dimeglumine-enhanced 4DF on a 1.5 T magnet to 2D CMR in children with repaired tetralogy of Fallot (rTOF) to measure pulmonary net flow (PNF) as a reflection of pulmonary regurgitation, forward flow (FF) and ventricular volumetry. Thirty-four consecutive cases were included. 2D PCs were obtained at the valve level. Using 4DF, we measured PNF at the valve and at the main and branch pulmonary arteries. PNF measured at the valve by 4DF demonstrated the strongest correlation (r = 0.87, p < 0.001) and lowest mean difference (3.5 ± 9.4 mL/beat) to aortic net flow (ANF). Semilunar FF and stroke volume of the respective ventricle demonstrated moderate-strong correlation by 4DF (r = 0.66-0.81, p < 0.001) and strong correlation by 2D (r = 0.81-0.84, p < 0.001) with similar correlations and mean differences between techniques (p > 0.05). Ventricular volumes correlated strongly between 2D and 4DF (r = 0.75-0.96, p < 0.001), though 4DF overestimated right ventricle volumes by 11.8-19.2 mL/beat. Inter-rater reliability was excellent for 2D and 4DF volumetry (ICC = 0.91-0.99). Ejection fraction moderately correlated (r = 0.60-0.75, p < 0.001) with better reliability by 4DF (ICC: 0.80-0.85) than 2D (ICC: 0.69-0.89). 4DF exams were shorter than 2D (9 vs. 71 min, p < 0.001). 4DF provides highly reproducible and accurate measurements of flow with slight overestimation of RV volumes compared to 2D in pediatric rTOF. 4DF offers important advantages in this population with long-term monitoring needs.

PMID: 31894524 [PubMed - indexed for MEDLINE]

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Congenital heart disease combined with Arrhythmogenic Right Ventricular Cardiomyopathy: A CARE compliant case report and literature review.

Medicine (Baltimore). 2020 Jun 19;99(25):e20279

Authors: Ren C, Fang Z, Zhao Y, Luo J

Abstract
RATIONALE: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy disease discovered in 1994. Though there are advances in diagnosis of arrhythmogenic right ventricular cardiomyopathy, early diagnosis is still difficult especially when it is combined with other diseases with similar pathophysiologic changes, such as left to right shunt congenital heart disease (CHD). In this paper, we reported a case of CHD combined with ARVC.
PATIENT CONCERNS: The patient was referred to us for chest tightness and shortness of breath after physical activities. His cardiac MRI indicated the possibility of arrhythmogenic right ventricular cardiomyopathy. He was diagnosed with a large atrial septal defect (ASD) through ultrasound examination.
DIAGNOSIS: CHD ASD combined with arrhythmogenic right ventricular cardiomyopathy.
INTERVENTIONS: The patient underwent occlusion of the ASD and he was followed-up closely. His symptoms were relieved a lot and the activity tolerance was elevated.
LESSONS: CHD may accompany with arrhythmogenic right ventricular cardiomyopathy. Careful history collection and comprehensive examinations should be emphasized. We firmly believe that our work will be helpful for the medical practice of similar complicated cardiovascular diseases.

PMID: 32569162 [PubMed - indexed for MEDLINE]

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Caring for adults with congenital heart disease in the era of Covid-19 pandemic: Early experience in an Italian tertiary centre.

Cardiol Young. 2020 Jul 06;:1-13

Authors: Scognamiglio G, Fusco F, Merola A, Palma M, Correra A, Sarubbi B

Abstract
BACKGROUND: Adults with CHD are known to greatly benefit from a prompt access to continuous expert care. On the other hand, Covid-19 pandemic has determined a dramatic worldwide reconfiguration of the healthcare systems, with rapid redeployment of resources towards this emergency. Italy was the first western country affected by a large-scale spread of Covid-19. The aim of our study is to analyse the impact of the Covid-19 outbreak on in-hospital care of patients with CHD in an Italian tertiary centre.
METHODS AND RESULTS: We retrospectively reviewed data on CHD hospital admissions in our centre since March 1st 2020, when the adoption of a strict infection containment policy throughout the country resulted in limited access of patients to routine hospital care and resources reallocation to the care of COVID-19 patients. Comparison with data from the previous year was performed in order to identify any relevant differences attributable to the outbreak. Despite cancellation of all elective procedures, the overall number of urgent hospital admission remained stable throughout the period of study. Patients admitted during the pandemic had greater disease complexity (p=0.001) with longer length on in-hospital stay (p=0.01). No adverse events or positive swabs were reported among CHD patients who were admitted to hospital or medical personnel caring for these patients.
CONCLUSION: Data from our early experience suggest that Covid-19 pandemic did not impact significantly on the provision of urgent care to adult patients with CHD.

PMID: 32624052 [PubMed - as supplied by publisher]

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Anomalous origin of right pulmonary artery: diagnosis, treatment, and follow-up in an adult patient.

Cardiol Young. 2020 Jul 06;:1-3

Authors: Pumacayo-Cárdenas S, Jimenez-Santos M, Quea-Pinto E

Abstract
Anomalous origin of a branch pulmonary artery from the aorta is a rare malformation, accounting for 0.12% of all congenital heart defects. We present the case of a 43-year-old man with an anomalous origin of the right pulmonary artery (AORPA) from the ascending aorta. Reimplantation of the right pulmonary artery was carried out successfully, with favourable evolution in the medium-term follow-up. It is the first described case that receives corrective treatment in adulthood with a favourable evolution.

PMID: 32624062 [PubMed - as supplied by publisher]

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Congenital left ventricular diverticulum repair in an adult with dual patch technique.

J Card Surg. 2020 Jul 06;:

Authors: Mejia J, Spindel SM, Pawale A, Itagaki S, Boateng P

Abstract
Rupture of a congenital left ventricular diverticulum (CLVD), a rare anatomical anomaly, is a catastrophic event, with potential fatal consequences. Repair techniques documented in the literature include primary closure and single patch closure. We describe a case of a 57-year-old woman with symptomatic anterolateral CLVD. Our approach involves a linear incision through the epicardial surface of the diverticulum with exclusion of the cavity, and restoration of normal ventricular geometry via a two-patch technique.

PMID: 32627233 [PubMed - as supplied by publisher]

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