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Bilateral Coronary Artery Fistula.

J Assoc Physicians India. 2016 08;64(8):84-85

Authors: Speedie A, Mathew C, Kerr R, Calton R

Coronary artery anomalies include anomalies of origin, termination, structure or course. Coronary artery fistulae (CAF) are classified as abnormalities of termination and are considered a major congenital anomaly. A coronary artery fistula involves a sizable communication between a coronary artery, bypassing the myocardial capillary bed and entering either a chamber of the heart (coronary-cameral fistula) or a great vessel. Bilateral coronary artery fistula, are a rare variant. We describe a bilateral CAF with angina and significant coronary artery disease requiring percutaneous coronary intervention.

PMID: 27762117 [PubMed - indexed for MEDLINE]

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Multimodality detection of multiple left ventricular diverticula: A case report and brief review of the literature.

Echocardiography. 2019 01;36(1):184-188

Authors: Bhardwaj B, Kumar SA, Webel R, Gautam S, Chockalingam A

Left ventricular diverticula (LVD) are rare congenital anomalies usually detected incidentally in the adult population. Most commonly, they are found as a single left ventricular diverticulum in association with other congenital abnormalities but multiple LVD are exceedingly rare. We are describing a patient who was found to have multiple LVD on multimodality imaging studies. He had presented with a sudden cardiac arrest attributed to a combination of alcohol intoxication and QT interval prolongation from hypokalemia and antidepressant medications. The patient was managed conservatively and discharged with an implantable loop recorder for detecting any occult arrhythmias.

PMID: 30376597 [PubMed - indexed for MEDLINE]

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Familial GATA6 mutation causing variably expressed diabetes mellitus and cardiac and renal abnormalities.

Endocrinol Diabetes Metab Case Rep. 2019 May 03;2019:

Authors: Du YT, Moore L, Poplawski NK, De Sousa SMC

A 26-year-old man presented with a combination of permanent neonatal diabetes due to pancreatic aplasia, complex congenital heart disease, central hypogonadism and growth hormone deficiency, structural renal abnormalities with proteinuria, umbilical hernia, neurocognitive impairment and dysmorphic features. His older brother had diabetes mellitus due to pancreatic hypoplasia, complex congenital heart disease, hypospadias and umbilical hernia. Their father had an atrial septal defect, umbilical hernia and diabetes mellitus diagnosed incidentally in adulthood on employment screening. The proband's paternal grandmother had a congenital heart defect. Genetic testing of the proband revealed a novel heterozygous missense variant (Chr18:g.19761441T>C, c.1330T>C, p.Cys444Arg) in exon 4 of GATA6, which is class 5 (pathogenic) using American College of Medical Genetics and Genomics guidelines and is likely to account for his multisystem disorder. The same variant was detected in his brother and father, but not his paternal grandmother. This novel variant of GATA6 likely occurred de novo in the father with autosomal dominant inheritance in the proband and his brother. The case is exceptional as very few families with monogenic diabetes due to GATA6 mutations have been reported to date and we describe a new link between GATA6 and renal pathology. Learning points: Monogenic diabetes should be suspected in patients presenting with syndromic features, multisystem congenital disease, neonatal-onset diabetes and/or a suggestive family history. Recognition and identification of genetic diabetes may improve patient understanding and empowerment and allow for better tailored management. Identification of a genetic disorder may have important implications for family planning.

PMID: 31051468 [PubMed - as supplied by publisher]

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Tissue oxygen saturation assessment of microvascular perfusion in adults with fontan palliation and comparator groups using vascular optical spectrophotometry - a pilot study.

Physiol Meas. 2019 May 03;:

Authors: Agarwal R, Chaudhry B, Jansen K, O'Sullivan J, Hudson M, Allen J, Coats L

OBJECTIVE: The Fontan operation greatly improves survival for single ventricle congenital heart disease patients but creates a physiology that leads to long-term multi-organ dysfunction. A non-invasive screening tool that can identify impending decline is sought. The objective of this pilot study was to assess the microcirculation in Fontan-palliated patients by measuring tissue oxygen saturation (StO2) in superficial and deeper tissues. 
 Approach: Three patient cohorts were studied: Fontan group (n=8) and two patient control groups, liver disease group (n=8) and tetralogy of Fallot group (n=9). 22 healthy controls were also examined. Superficial and deeper StO2 was measured at the forearm, thenar eminence, index and ring fingers of both arms using the LEA O2C spectrophotometry device. 
 Main Findings: Superficial StO¬2 was reduced in Fontan patients compared to healthy controls (p=0.002) and tetralogy patients (p=0.016), but not compared to the liver group (p=0.313). Deeper StO2 was similar between groups (p=0.112). The gap between deeper and superficial StO2 was raised in Fontan patients compared to healthy controls (p=0.001) and tetralogy patients (p=0.037), but not compared to the liver group (p=0.504). There was no clinically relevant difference in StO2 between the left and right arms, and the variation in StO2 according to measurement site was similar between the four groups. 
 Significance: Vascular optical spectrophotometry is a feasible non-invasive measure of micro-circulatory function that can easily be performed in the clinic setting and may have utility in patients with Fontan circulations. Further, we provide important normal range data in the healthy control population which can be used to design future studies.

PMID: 31051474 [PubMed - as supplied by publisher]

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Too little too late? Communication with patients with congenital heart disease about challenges of adult life.

Congenit Heart Dis. 2019 May 04;:

Authors: Deng LX, Gleason LP, Awh K, Khan AM, Drajpuch D, Fuller S, Goldberg LA, Mascio CE, Partington SL, Tobin L, Kovacs AH, Kim YY

OBJECTIVE: To investigate the experiences and communication preferences of adult patients with congenital heart disease (CHD) in the domains of employment, insurance, and family planning.
DESIGN: Patients ≥ 18 years of age completed a questionnaire about experiences and communication preferences regarding employment, health insurance, and family planning.
RESULTS: Of 152 patients (median age = 33 years, 50% female, 35% with CHD of great complexity), one in four reported work-related problems due to CHD and a quarter also recalled a previous gap in health insurance. Of females, 29% experienced an unplanned pregnancy. The median importance of discussion ratings (on a 0-10 scale) were 3.5 (employment), 6.0 (insurance), and 8.0 (family planning). Few patients recalled discussions about employment (19%) or health insurance (20%). Over half recalled discussions about family planning, although males were less likely to have had these discussions than females (24% vs 86%, P < .001). Across the three domains, patients identified 16-18 years as the most appropriate age to initiate discussion, although for patients who recalled discussions, they typically occurred between 20 and 25 years.
CONCLUSIONS: Adults with CHD commonly face employment, health insurance, and family planning challenges. However, discussions about these matters occur with less frequency than recommended and at older ages than patients would prefer. Communication about such issues should be incorporated into a comprehensive educational curriculum for adolescents during the process of transition to adult care.

PMID: 31054179 [PubMed - as supplied by publisher]

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Patient outcomes after transcatheter and surgical pulmonary valve replacement for pulmonary regurgitation in patients with repaired tetralogy of Fallot: A quasi-meta-analysis.

Eur J Cardiovasc Nurs. 2017 Aug;16(6):539-553

Authors: McRae ME, Coleman B, Atz TW, Kelechi TJ

BACKGROUND: Individuals with repaired tetralogy of Fallot develop pulmonary regurgitation that may cause symptoms (dyspnea, chest pain, palpitations, fatigue, presyncope, and syncope), impair functional capacity, and may affect health-related quality of life. Surgical pulmonary valve replacement is the gold standard of treatment although transcatheter pulmonary valve replacement is becoming more common. Patients want to know whether less invasive options are as good.
AIMS: This analysis aimed to examine the differences in surgical versus transcatheter pulmonary valve replacement effects in terms of physiological/biological variables, symptoms, functional status and health-related quality of life.
METHODS: This quasi-meta-analysis included 85 surgical and 47 transcatheter pulmonary valve replacement studies published between 1995-2016.
RESULTS: In terms of physiological/biological variables, both surgical and transcatheter pulmonary valve replacement improved pulmonary regurgitation and systolic and diastolic right ventricular volume indices but not heart function. In the left heart, only surgical pulmonary valve replacement improved heart function. Only transcatheter pulmonary valve replacement improved left ventricular end-diastolic indices and neither improved endsystolic indices. Only surgery has been demonstrated to decrease QRS duration but there is little evidence of arrhythmia reduction. Symptom change is poorly documented. Functional class improves but exercise capacity generally does not. Some aspects of health-related quality of life improve with surgery and in one small transcatheter pulmonary valve replacement study.
CONCLUSION: Transcatheter and surgical pulmonary valve replacement compare favorably for heart remodeling. Exercise capacity does not change with either technique. Health-related quality of life improves after surgical pulmonary valve replacement. There are numerous gaps in documentation of changes in arrhythmias and symptoms.

PMID: 28756698 [PubMed - indexed for MEDLINE]

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Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.

Circulation. 2018 04 10;137(15):1595-1610

Authors: Bermúdez-Jiménez FJ, Carriel V, Brodehl A, Alaminos M, Campos A, Schirmer I, Milting H, Abril BÁ, Álvarez M, López-Fernández S, García-Giustiniani D, Monserrat L, Tercedor L, Jiménez-Jáimez J

BACKGROUND: Desmin (DES) mutations cause severe skeletal and cardiac muscle disease with heterogeneous phenotypes. Recently, DES mutations were described in patients with inherited arrhythmogenic right ventricular cardiomyopathy/dysplasia, although their cellular and molecular pathomechanisms are not precisely known. Our aim is to describe clinically and functionally the novel DES-p.Glu401Asp mutation as a cause of inherited left ventricular arrhythmogenic cardiomyopathy/dysplasia.
METHODS: We identified the novel DES mutation p.Glu401Asp in a large Spanish family with inherited left ventricular arrhythmogenic cardiomyopathy/dysplasia and a high incidence of adverse cardiac events. A full clinical evaluation was performed on all mutation carriers and noncarriers to establish clinical and genetic cosegregation. In addition, desmin, and intercalar disc-related proteins expression were histologically analyzed in explanted cardiac tissue affected by the DES mutation. Furthermore, mesenchymal stem cells were isolated and cultured from 2 family members with the DES mutation (1 with mild and 1 with severe symptomatology) and a member without the mutation (control) and differentiated ex vivo to cardiomyocytes. Then, important genes related to cardiac differentiation and function were analyzed by real-time quantitative polymerase chain reaction. Finally, the p.Glu401Asp mutated DES gene was transfected into cell lines and analyzed by confocal microscopy.
RESULTS: Of the 66 family members screened for the DES-p.Glu401Asp mutation, 23 of them were positive, 6 were obligate carriers, and 2 were likely carriers. One hundred percent of genotype-positive patients presented data consistent with inherited arrhythmogenic cardiomyopathy/dysplasia phenotype with variable disease severity expression, high-incidence of sudden cardiac death, and absence of skeletal myopathy or conduction system disorders. Immunohistochemistry was compatible with inherited arrhythmogenic cardiomyopathy/dysplasia, and the functional study showed an abnormal growth pattern and cellular adhesion, reduced desmin RNA expression, and some other membrane proteins, as well, and desmin aggregates in transfected cells expressing the mutant desmin.
CONCLUSIONS: The DES-p.Glu401Asp mutation causes predominant inherited left ventricular arrhythmogenic cardiomyopathy/dysplasia with a high incidence of adverse clinical events in the absence of skeletal myopathy or conduction system disorders. The pathogenic mechanism probably corresponds to an alteration in desmin dimer and oligomer assembly and its connection with membrane proteins within the intercalated disc.

PMID: 29212896 [PubMed - indexed for MEDLINE]

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Branch Pulmonary Artery Valve Implantation Reduces Pulmonary Regurgitation and Improves Right Ventricular Size/Function in Patients With Large Right Ventricular Outflow Tracts.

JACC Cardiovasc Interv. 2018 03 26;11(6):541-550

Authors: Qureshi AM, Bansal N, McElhinney DB, Boudjemline Y, Forbes TJ, Maschietto N, Shahanavaz S, Cheatham JP, Krasuski R, Lamers L, Chessa M, Morray BH, Goldstein BH, Noel CV, Wang Y, Gillespie MJ

OBJECTIVES: The authors sought to assess the intermediate-term effects of percutaneous placed valves in the branch pulmonary artery (PA) position.
BACKGROUND: Most patients with large right ventricular outflow tracts (RVOTs) are excluded from available percutaneous pulmonary valve options. In some of these patients, percutaneous branch PA valve implantation may be feasible. The longer-term effects of valves in the branch PA position is unknown.
METHODS: Retrospective data were collected on patients with significant pulmonary regurgitation who had a percutaneous branch PA valve attempted.
RESULTS: Percutaneous branch PA valve implantation was attempted in 34 patients (18 bilateral and 16 unilateral). One-half of the patients were in New York Heart Association (NHYA) functional class III or IV pre-implantation. There were 2 failed attempts and 6 procedural complications. At follow-up, only 1 patient had more than mild valvar regurgitation. The right ventricular end-diastolic volume index decreased from 147 (range: 103 to 478) ml/m2 to 101 (range: 76 to 429) ml/m2, p < 0.01 (n = 16), and the right ventricular end-systolic volume index decreased from 88.5 (range: 41 to 387) ml/m2 to 55.5 (range: 40.2 to 347) ml/m2, p < 0.01 (n = 13). There were 5 late deaths. At a median follow-up of 2 years, all other patients were in NYHA functional class I or II.
CONCLUSIONS: Percutaneous branch PA valve implantation results in a reduction in right ventricular volume with clinical benefit in the intermediate term. Until percutaneous valve technology for large RVOTs is refined and more widely available, branch PA valve implantation remains an option for select patients.

PMID: 29566799 [PubMed - indexed for MEDLINE]

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Transcatheter Pulmonary Valve Replacement With the Melody Valve in Small Diameter Expandable Right Ventricular Outflow Tract Conduits.

JACC Cardiovasc Interv. 2018 03 26;11(6):554-564

Authors: Shahanavaz S, Qureshi AM, Levi DS, Boudjemline Y, Peng LF, Martin MH, Bauser-Heaton H, Keeshan B, Asnes JD, Jones TK, Justino H, Aboulhosn JA, Gray RG, Nguyen H, Balzer DT, McElhinney DB

OBJECTIVES: This study sought to evaluate the safety, feasibility, and outcomes of transcatheter pulmonary valve replacement (TPVR) in conduits ≤16 mm in diameter.
BACKGROUND: The Melody valve (Medtronic, Minneapolis, Minnesota) is approved for the treatment of dysfunctional right ventricular outflow tract (RVOT) conduits ≥16 mm in diameter at the time of implant. Limited data are available regarding the use of this device in smaller conduits.
METHODS: The study retrospectively evaluated patients from 9 centers who underwent percutaneous TPVR into a conduit that was ≤16 mm in diameter at the time of implant, and reported procedural characteristics and outcomes.
RESULTS: A total of 140 patients were included and 117 patients (78%; median age and weight 11 years of age and 35 kg, respectively) underwent successful TPVR. The median original conduit diameter was 15 (range: 9 to 16) mm, and the median narrowest conduit diameter was 11 (range: 4 to 23) mm. Conduits were enlarged to a median diameter of 19 mm (29% larger than the implanted diameter), with no difference between conduits. There was significant hemodynamic improvement post-implant, with a residual peak RVOT pressure gradient of 7 mm Hg (p < 0.001) and no significant pulmonary regurgitation. During a median follow-up of 2.0 years, freedom from RVOT reintervention was 97% and 89% at 2 and 4 years, respectively, and there were no deaths and 5 cases of endocarditis (incidence rate 2.0% per patient-year).
CONCLUSIONS: In this preliminary experience, TPVR with the Melody valve into expandable small diameter conduits was feasible and safe, with favorable early and long-term procedural and hemodynamic outcomes.

PMID: 29566801 [PubMed - indexed for MEDLINE]

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Rheumatic heart disease in Timor-Leste school students: an echocardiography-based prevalence study.

Med J Aust. 2018 04 16;208(7):303-307

Authors: Davis K, Remenyi B, Draper AD, Dos Santos J, Bayley N, Paratz E, Reeves B, Appelbe A, Cochrane A, Johnson TD, Korte LM, Do Rosario IM, Da Silva Almeida IT, Roberts KV, Carapetis JR, Francis JR

OBJECTIVES: To determine the prevalence of rheumatic heart disease (RHD) in school-aged children and young people in Timor-Leste.
DESIGN: Prospective cross-sectional survey. Echocardiography was performed by Australian cardiologists to determine the presence of RHD. Demographic data were also collected. Patients in whom RHD was detected were entered into a register to allow monitoring of adherence to secondary prophylaxis; the first dose of benzathine penicillin G (BPG) was administered on the day of screening.
SETTING: Schools in urban (Dili) and rural (Ermera) Timor-Leste.
PARTICIPANTS: School students aged 5-20 years.
OUTCOME MEASURES: Definite and borderline RHD, as defined by World Heart Federation echocardiographic criteria.
RESULTS: 1365 participants were screened; their median age was 11 years (IQR, 9-14 years), and 53% were girls. The estimated prevalence of definite RHD was 18.3 cases per 1000 population (95% CI, 12.3-27.0 per 1000), and of definite or borderline RHD 35.2 per 1000 (95% CI, 26.5-46.4 per 1000). Definite (adjusted odds ratio [aOR], 3.5; 95% CI, 1.3-9.4) and definite or borderline RHD (aOR, 2.7; 95% CI, 1.4-5.2) were more prevalent among girls than boys. Eleven children (0.8%) had congenital heart disease. Of the 25 children in whom definite RHD was identified, 21 (84%) received education and a first dose of BPG on the day of screening; all 25 have since received education about primary care for RHD and have commenced penicillin prophylaxis.
CONCLUSIONS: The rates of RHD in Timor-Leste are among the highest in the world, and prevalence is higher among girls than boys. Community engagement is essential for ensuring follow-up and the effective delivery of secondary prophylaxis.

PMID: 29642817 [PubMed - indexed for MEDLINE]