Congenital Heart Disease in Adults with Autosomal Dominant Polycystic Kidney Disease.

INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is caused mainly by pathogenic variants in PKD1 or PKD2 encoding the polycystin-1 and -2 proteins. Polycystins have shown to have an essential role in cardiac development and function in animal models. In the current study, we describe the clinical association between ADPKD and congenital heart disease (CHD). METHODS: Medical records from Mayo Clinic were queried for all patients with confirmed ADPKD and CHD between 1993 and 2020. CHD was categorized into left-to-right shunt, obstructive, and complex lesions. Patent foramen ovale, mitral valve prolapse, and bicuspid aortic valve anomalies were excluded. RESULTS: Twenty-five out of 1,359 (1.84%) ADPKD patients were identified to have CHD. Of these, 84% were Caucasians and 44% were males. The median (Q1-Q3) age (years) at CHD diagnosis was 12.0 (2.0-43.5). Fourteen patients (56%) had left-to-right shunt lesions, 6 (24%) had obstructive lesions and 5 (20%) complex lesions. Seventeen patients (68%) had their defects surgically corrected at a median age (Q1-Q3) of 5.5 (2.0-24.7). Among 13 patients with available genetic testing, 12 (92.3%) had PKD1 pathogenic variants, and none had PKD2. The median (Q1-Q3) age at last follow-up visit was 47.0 (32.0-62.0) and median (Q1-Q3) eGFR was 35.8 (11.4-79.0) mL/min/1.73 m2. Three patients (12%) died; all of them had left-to-right shunt lesions. DISCUSSION/CONCLUSION: We observed a higher CHD frequency in ADPKD than the general population (1.84 vs. 0.4%). While only PKD1 pathogenic variants were identified in this cohort, further studies are needed to confirm this novel finding and understand the role of polycystins in the development of the heart and vessels.

Left heart bypass for repair of aortic coarctation in children: Technical tips and pitfalls.

Spinal cord injury secondary to coarctation repair in children is a serious, though relatively uncommon, complication. Several measures have been proposed to minimize this risk, which seems to affect more older children than neonates and those with inadequate collateral circulation. Left heart bypass has been proposed as a protective strategy.

Prevalence and risk factors for Subclinical Rheumatic Heart Disease among primary school children in Dar es Salaam, Tanzania: a community based cross-sectional study.

BACKGROUND: Rheumatic heart disease (RHD) is the most common acquired heart disease occurring in children and adolescents. RHD is associated with significant morbidity and mortality particularly in low and middle- income countries (LMICs) where the burden is estimated to be higher compared to high income countries. Subclinical RHD is the presence of valvular lesion diagnosed by echocardiography in a person with no clinical manifestation of RHD. This study aimed at determining the prevalence, types and factors associated with subclinical RHD among primary school children in Dar Es Salaam, Tanzania. METHODS: A descriptive community-based cross-sectional study was conducted in primary school children from February to May 2019. A standardized structured questionnaire was used to collect demographic characteristics, history of upper respiratory tract infections (URTIs), anthropometric measurements, and chest auscultation findings. Moreover echocardiographic screening was done to all children recruited into the study. World Heart Federation echocardiographic classification was used to define the types and prevalence of subclinical RHD. RESULTS: A total of 949 primary school children were enrolled with females being predominant (57.1%). The prevalence of subclinical RHD was 34 per 1000. All the participants had mitral valve disease only whereby 17 had definite disease and 15 had a borderline disease. The associated factors for subclinical RHD were older age of more than 9 years (OR 10.8, 95% CI 1.4-82.2, P = 0.02) having three or more episodes of URTI in previous six months (OR 21, 95% CI 9.6-46, P = 0.00) and poor hygiene (OR 3, 95% CI 1.3-6.8, P = 0.009). CONCLUSION: Subclinical RHD as detected by echocardiographic screening is prevalent in primary school children, uniformly affects the mitral valve, and is associated with potentially modifiable risk factors. Children with a history of more than three episodes of URTI in six months represents a high-risk population that should be targeted for RHD screening.

Reconsideration of the diagnostic criteria required for PCV2 reproductive disease.

Porcine circovirus type 2 (PCV2) causes a variety of clinical conditions including PCV2-associated reproductive disease (PCV2-RD) characterized by late term abortions and mummifications. The generally accepted diagnostic triad includes the presence of reproductive disorders, the histopathological finding of myocarditis, and detection of moderate to high viral loads within the heart tissue. A new threshold of 109 PCV2 genome equivalents (GE)/g heart tissue is suggested to fulfil the third criterion using the diagnostic settings of quantitative real time PCR and in situ hybridization of 30 fetal heart tissues. The need to identify histopathological lesions in fetal heart tissue appears to be invalid or overestimated in confirming a diagnosis of PCV2-RD, at least at the individual fetus level. The highest viral loads (1012 GE/g tissue) were detected in autolyzed and mummified piglets and were identified as PCV2d, although concurrent detection of PCV2d + a and PCV2d + b also occurred.

Effect of abnormal right heart structures on the diagnosis of pulmonary hypertension.

The diagnosis of pulmonary hypertension (PH) requires a right heart catheterization (RHC) that reveals a mean pulmonary artery pressure ≥ 25 mmHg. The pulmonary artery catheter traverse the right atrium and ventricle on its way to the pulmonary artery. The presence of abnormal right heart structures, i.e. thrombus, vegetation, benign or malignant cardiac lesions, can lead to complications during this procedure. On the other hand, avoidance of RHC delays the diagnosis and treatment of PH, an approach that might be associated with worse outcomes. This paper discusses the impact of right heart lesions on the diagnosis of PH and suggests an approach on how to manage this association.

Cor triatriatum sinister.

The cor triatriatum sinister is an uncommon congenital cardiac anomaly and reports in the literature are limited. It is often associated with other cardiac malformations, such as atrial septal defect, transposition of the great arteries, tetralogy of Fallot or atrioventricular septal defect. We present here a 6-year old boy who was diagnosed with cor triatriatum sinister, initially showing symptoms similar to mitral valve stenosis and congestive heart failure, and who underwent subsequent surgical correction using a left atrial approach. The fibromuscular membrane, separating the pulmonary veins from the mitral valve, was completely resected and postoperative echocardiography showed unobstructed pulmonary venous flow.

Cardiac magnetic resonance in adults with congenital heart disease.

Increasing numbers of adults with congenital heart disease are referred for cardiac magnetic resonance imaging. Knowledge of the congenital heart anatomy, prior surgical interventions, and the development of an imaging focus for each individual patient plays a crucial role when performing a successful cardiac magnetic resonance imaging examination. The following manuscript focuses on cardiac magnetic resonance imaging considerations of three specific conotruncal congenital heart lesions: tetralogy of Fallot, transposition of the great arteries (TGA), and physiologically corrected TGA (c-TGA).

Intoxicação natural e experimental por Nerium oleander (Apocynaceae) em bovinos no Rio Grande do Sul / Natural and experimental poisoning by Nerium oleander (Apocynaceae) in cattle in Rio Grande do Sul

Descreve-se a intoxicação natural e experimental por Nerium oleander em bovinos no Rio Grande do Sul, Brasil. Dois de oito bovinos morreram subitamente após consumirem folhas de galhos de N. oleander que haviam sido podados e jogados no piquete onde os animais eram mantidos. Não foram observados sinais clínicos em uma vaca, mas um terneiro de 4 meses de idade apresentou decúbito lateral, movimentos de pedalagem, vocalização e morte. As alterações macroscópicas mais importantes observadas na vaca morta naturalmente e em duas novilhas intoxicadas experimentalmente ocorreram no coração que apresentava petéquias e equimoses no átrio esquerdo, coágulos e hemorragias no endocárdio do ventrículo esquerdo e áreas levemente pálidas no septo interventricular e em porções do miocárdio dos ventrículos. Na histologia, havia necrose de coagulação de fibras cardíacas individuais e de pequenos agrupamentos, caracterizada por aumento de eosinofilia citoplasmática e núcleos picnóticos. Essas lesões eram mais acentuadas no músculo papilar. O diagnóstico foi fundamentado na presença da planta no potreiro onde estavam os animais, quadro clínico-patológico compatível e reprodução experimental em dois bovinos nas doses de 0,5 e 1,0g/kg de folhas frescas da planta.

This paper describes natural and experimental poisoning of cattle by Nerium oleander in Rio Grande do Sul. Two out of eight cattle died acutely after consumption of leaves of Nerium oleander, branches of which had been cut and placed into a paddock where the animals were kept. An affected cow did not show clinical signs, but a 4-month-old calf presented lateral recumbence, paddling, vocalization and death. Main gross findings in the cow naturally poisoned and in two experimentally intoxicated heifers were observed in the heart and included hemorrhages in the left atrium, clots and hemorrhages in the left ventricular endocardium, and pale areas in the interventricular septum and ventricular myocardium. Histologically, there was coagulation necrosis of individual cardiac fibers or small groups of fibers, characterized by enhanced cytoplasmic eosinophily and picnotic nuclei. These lesions were most severe in the papillary muscle. The diagnosis was based on presence of the trimmed N. oleander in the paddock where the animals stayed, evidence of consumption of the plant, consistent clinical and pathological findings, and experimental reproduction of the disease through oral administration of 0.5 and 1.0g/kg of its green leaves to two cattle.

Comparative value of cardiac MRI and echocardiography in the assessment of congenital heart lesions

To examine the usefulness of cardiac MRI in assessing patients (pt) with congenital heart diseases(CHD), informations obtained from MRI and echocardiogrphy (echo) were compared in 91 consecutive pt with CHD and was correlated with findigs at cardiac catheterization (53pt) and at surgery (71pt). Pt were studied with 1.5 Tesla MRI unit and multiplanar images of the heart and great vessels were obtained using ECG-gated multislice spin-echo technique. Age ranged from newborn to 22 years. We obtained the following results. MRI was vary useful in providing important diagnostic informations in 19pt, provided informations which was not crucial to the clinical decision in 28pt, and did not provide additional informations in 44pt. MRI was very useful in assessing complex lesions, particularly in identifying atrial situs, rudimentary ventricular chamber, criss-cross atrioventricular connection, total anomalous pulmonary venous connection, anatomy of ventricular septal defect in double outlet right ventricle, anomalous ventricular muscles, aortopulmonary collateral artery and distal pulmonary artery anatomy. En face view of the ventricular septum was very useful in clearly outlining the ventricular septal defect. MRI gave false information in 17pt. Diagnostic accuracy of MRI was poor for coarctation of the aorta in neonates and small infants, patent ductus arteriosus and pulmonary stenosis. Cardiac MRI is recommended for preoperative planning in selected pt with CHD, particularly with complex lesions.