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Double-lung versus heart-lung transplantation for precapillary pulmonary arterial hypertension: a 24-year single-center retrospective study.

Transpl Int. 2019 Jul;32(7):717-729

Authors: Brouckaert J, Verleden SE, Verbelen T, Coosemans W, Decaluwé H, De Leyn P, Depypere L, Nafteux P, Van Veer H, Meyns B, Rega F, Van De Velde M, Poortmans G, Rex S, Neyrinck A, Van den Berghe G, Vlasselaers D, Van Cleemput J, Budts W, Vos R, Quarck R, Belge C, Delcroix M, Verleden GM, Van Raemdonck D

Transplant type for end-stage pulmonary vascular disease remains debatable. We compared recipient outcome after heart-lung (HLT) versus double-lung (DLT) transplantation. Single-center analysis (38 HLT-30 DLT; 1991-2014) for different causes of precapillary pulmonary hypertension (PH): idiopathic (22); heritable (two); drug-induced (nine); hepato-portal (one); connective tissue disease (four); congenital heart disease (CHD) (24); chronic thromboembolic PH (six). HLT decreased from 91.7% [1991-1995] to 21.4% [2010-2014]. Re-intervention for bleeding was higher after HLT; (P = 0.06) while primary graft dysfunction grades 2 and 3 occurred more after DLT; (P < 0.0001). Graft survival at 90 days, 1, 5, 10, and 15 years was 93%, 83%, 70%, 47%, and 35% for DLT vs. 82%, 74%, 61%, 48%, and 30% for HLT, respectively (log-rank P = 0.89). Graft survival improved over time: 100%, 93%, 87%, 72%, and 72% in [2010-2014] vs. 75%, 58%, 42%, 33%, and 33% in [1991-1995], respectively; P = 0.03. No difference in chronic lung allograft dysfunction (CLAD)-free survival was observed: 80% & 28% for DLT vs. 75% & 28% for HLT after 5 and 10 years, respectively; P = 0.49. Primary graft dysfunction in PH patients was lower after HLT compared to DLT. Nonetheless, overall graft and CLAD-free survival were comparable and improved over time with growing experience. DLT remains our preferred procedure for all forms of precapillary PH, except in patients with complex CHD.

PMID: 30735591 [PubMed - indexed for MEDLINE]

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Aortopathy and regurgitation in bicuspid valve patients increase the risk of aortopathy in relatives.

Int J Cardiol. 2019 07 01;286:117-120

Authors: Dayan V, Zuasnabar A, Citro R, Bossone E, Michelena HI, Parma G, Bellino M, Olascoaga A, Florio L, Body S, Bicuspid Aortic Valve Consortium – BAVCON

BACKGROUND: Bicuspid aortic valve (BAV) is the most frequent cardiac congenital valvular disease. Although the BAV risk of first degree relatives (FDR) has been assessed (7-9%), there is little information as to the heritable risk for aortopathy.
OBJECTIVE: Identify the specific risk for regional aortopathy in FDR with tricuspid aortic valve (TAV) of BAV patients according to their aortic phenotype and aortic regurgitation (AR).
METHODS: Using an international consortium, BAV probands were assessed for aortopathy of the root, ascending aorta and for AR. Aortopathy was defined by the presence of segmental dilatation. The presence of segmental aortopathy and AR in BAV probands was evaluated as predictor for aortopathy in FDR with TAV.
RESULTS: We identified 74 FDR related to 49 probands with aortopathy and 66 FDR related to 31 probands without aortopathy. Demographic variables were similar between proband groups. Among FDR, 16 individuals had BAV (11.4%). TAV-FDR of probands with ascending aortopathy had higher incidence of root aortopathy (18.8% vs. 3.6% p < 0.05) while TAV-FDR of probands with root aortopathy had higher incidence of aortopathy at all aortic segments (55%vs25%, 55%vs21%, and 4%vs29% at annulus, root and ascending respectively, p < 0.05 for all). Independent predictors for root aortopathy in TAV-FDR were: ascending (OR = 6.23;95%CI:1.27-30.5) and root aortopathy (OR = 9.00;95%CI:1.58-51.1) in probands; and for ascending aortopathy: root aortopathy (OR = 4.04;95%CI:1.33-12.3) and AR in probands (OR = 4.84; 95%CI:1.75-13.4).
CONCLUSION: Root and ascending aortopathy in BAV probands are strong predictors of aortopathy in their TAV-FDR. AR in BAV patients has an independent effect on the risk for ascending aortopathy in TAV-FDR.

PMID: 30954286 [PubMed - indexed for MEDLINE]

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A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature.

J Pediatr Endocrinol Metab. 2019 Sep 25;32(9):1027-1030

Authors: Gaisl O, Konrad D, Joset P, Lang-Muritano M

GATA6 gene variants come along with possible features such as pancreas agenesis/hypoplasia, neonatal diabetes and congenital heart defect. Congenital hypothyroidism, and hepatobiliary and gut abnormalities are also detectable. Children with congenital heart defects and neonatal diabetes were already described in 1970. GATA6 variants can be due to de novo variants or due to inherited variants. To date, 11 cases due to an inherited variant have been described. Herein we present a novel heterozygous GATA6 variant (c.1291C > T p.[Gln431*]) in a boy with transient neonatal diabetes, diaphragmatic hernia, congenital heart defect and early-onset scoliosis. The same variant was also present in the mother. At the age of 3 years, a random evaluation revealed a hemoglobin A1c (HbA1c) level of 7.8% (62 mmol/mol) without any diabetes-related symptoms. He was started on insulin therapy and HbA1c normalized. A short review of the literature of hereditary cases of the GATA6 variant revealed the variable phenotypic spectrum and showed that patients with a mild phenotype are likely to have children with a more severe phenotype.

PMID: 31271559 [PubMed - indexed for MEDLINE]

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22q11.2 deletion syndrome and congenital heart disease.

Am J Med Genet C Semin Med Genet. 2020 Feb 12;:

Authors: Goldmuntz E

The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. The phenotype varies widely; the most common features include: facial dysmorphia, hypocalcemia, palate and speech disorders, feeding and gastrointestinal disorders, immunodeficiency, recurrent infections, neurodevelopmental and psychiatric disorders, and congenital heart disease. Approximately 60-80% of patients have a cardiac malformation most commonly including a subset of conotruncal defects (tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B), conoventricular and/or atrial septal defects, and aortic arch anomalies. Cardiac patients with a 22q11.2 deletion do not generally experience higher mortality upon surgical intervention but suffer more peri-operative complications than their non-syndromic counterparts. New guidelines suggest screening for a 22q11.2 deletion in the patient with tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B, conoventricular septal defects as well as those with an isolated aortic arch anomaly. Early identification of a 22q11.2 deletion in the neonate or infant when other syndromic features may not be apparent allows for timely parental screening for reproductive counseling and anticipatory evaluation of cardiac and noncardiac features. Screening the at-risk child or adult allows for important age-specific clinical, neurodevelopmental, psychiatric, and reproductive issues to be addressed.

PMID: 32049433 [PubMed - as supplied by publisher]

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Prenatal detection of fetal heart disease at Jordan University Hospital: early experience in a developing country.

Cardiol Young. 2019 Aug;29(8):1072-1077

Authors: Tutunji L, Thekrallah F, Basha A, Awaysheh B, Amer S, Khatib L, Hamdan L, Saber N, Mustafa A, Jadallah R, Kazaleh F, Al-Lawama M, Badran E, Al-Ammouri I

OBJECTIVE: To report on the first 5 years of establishment of fetal echocardiographic services at the Jordan University Hospital with emphasis on diagnosis and outcome.
METHODS: A retrospective chart review was conducted on all fetal echocardiographic studies performed between January 2011 and December 2015. Data collected included maternal demographics, referral indications, fetal cardiac diagnosis, correlation to post-natal diagnosis, outcome of pregnancy including pre-mature delivery and perinatal mortality. Basic statistical analysis was performed including demographic analysis, and calculation of fetal echocardiographic sensitivity and specificity.
RESULTS: A total of 208 fetuses underwent fetal echocardiographic evaluation at a mean gestational age of 26.5 (±5) weeks. The most common referral indication was a suspicion of CHD during the obstetric ultrasound (44.2%), followed by cardiac dysfunction (18.2%), and a family history of CHD (14.9%). Fetal echocardiography showed CHD in 71 fetuses (34%), heart failure in 26 (12.5%), arrhythmia in 9 (4.3%), and intracardiac masses in 2. In the remaining 100 fetuses (48%), fetal echocardiography showed normal evaluation. For detecting CHD, fetal echocardiography had a sensitivity and specificity of 91.7% and 95.4%, respectively. Perinatal mortality including termination of pregnancy, intrauterine fetal death, and neonatal mortality was highest in heart failure (77%), and was 41% for CHD.
CONCLUSION: The fetal cardiac diagnostic services at the Jordan University Hospital have encouraging initial results with a relatively high sensitivity and specificity. The services further positively impacted the quality of counselling offered and facilitated pre- and post-natal management.

PMID: 31287035 [PubMed - indexed for MEDLINE]

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Genetic considerations for adults with congenital heart disease.

Am J Med Genet C Semin Med Genet. 2020 Feb 13;:

Authors: Ito S, Chapman KA, Kisling M, John AS

Congenital heart disease (CHD) remains the most common birth defect, with an estimated incidence of approximately 1% of all births. The population of adults with CHD is growing rapidly with advances in medical care. Overall survival to adulthood in the current era estimated to exceed 90%. Genetic causes of CHD can be classified into several broad categories: (a) chromosomal aneuploidy, (b) large chromosomal deletion or duplication, (c) single gene mutation, and (d) copy number variation. However, only 20-30% of CHD cases have an established etiology characterized by either genetic abnormalities or environmental factors. The role of genetics in the field of adult CHD is only increasing. More adult patients with CHD are seeking genetic counseling to understand the etiology of their underlying CHD and the risks to future offspring. A multidisciplinary approach is essential to provide appropriate counseling to patients regarding indications for genetic testing and interpretations of results. Novel advances with precision medicine may soon enable clinicians to individualize therapies for a comprehensive approach to the care of adult patients with CHD.

PMID: 32052945 [PubMed - as supplied by publisher]

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Estimated blood loss in pregnant women with cardiac disease compared with low risk women: a restrospective cohort study.

BMC Pregnancy Childbirth. 2019 Sep 04;19(1):325

Authors: Chong HP, Hodson J, Selman TJ, Hudsmith LE, Thompson PJ, Morris RK, Thorne S

BACKGROUND: Women with cardiac disease are thought to be at increased risk of post-partum haemorrhage. We sought to assess the estimated blood loss (EBL) in our cohort of women with and without cardiac disease (CD) in a quaternary hospital in the UK. Our population consisted of both congenital and acquired CD; and low risk women who delivered in our unit between 01/01/2012-30/09/2016.
METHODS: Data were collected using computerised hospital records. CD was classified according to the modified WHO classification (mWHO). The primary outcome measure was estimated blood loss (mL).
RESULTS: A total of 5413 women with a singleton fetus in the cephalic presentation delivered during the study period (159 women with CD and 5254 controls). In the CD group, active management of the third stage of labour was consistent with that used in low risk women in 98% (152/155) of cases. Multivariable analyses demonstrated no significant difference in EBL between women with CD vs controls. The adjusted average blood losses were 247.2 ml, 241.8 ml and 295.9 ml in the control group, mWHO 1-2 and 3-4, respectively (p = 0.165).
CONCLUSIONS: Women with CD have comparable EBL to low risk women when management of the active third stage of labour is the same.

PMID: 31484509 [PubMed - indexed for MEDLINE]

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Advance care planning and palliative care in ACHD: the healthcare providers' perspective.

Cardiol Young. 2020 Feb 14;:1-7

Authors: Steiner JM, Oechslin EN, Veldtman G, Broberg CS, Stout K, Kirkpatrick J, Kovacs AH

BACKGROUND: Advance care planning and palliative care are gaining recognition as critical care components for adults with CHD, yet these often do not occur. Study objectives were to evaluate ACHD providers' 1) comfort managing patients' physical symptoms and psychosocial needs and 2) perspectives on the decision/timing of advance care planning initiation and palliative care referral.
METHODS: Cross-sectional study of ACHD providers. Six hypothetical patients were described in case format, followed by questions regarding provider comfort managing symptoms, initiating advance care planning, and palliative care referral.
RESULTS: Fifty providers (72% physicians) completed surveys. Participants reported low levels of personal palliative care knowledge, without variation by gender, years in practice, or prior palliative care training. Providers appeared more comfortable managing physical symptoms and discussing prognosis than addressing psychosocial needs. Providers recognised advance directives as important, although the percentage who would initiate advance care planning ranged from 18 to 67% and referral to palliative care from 14 to 32%. Barriers and facilitators to discussing advance care planning with patients were identified. Over 20% indicated that advance care planning and end-of-life discussions are best initiated with the development of at least one life-threatening complication/hospitalisation.
CONCLUSIONS: Providers noted high value in advance directives yet were themselves less likely to initiate advance care planning or refer to palliative care. This raises the critical questions of when, how, and by whom discussion of these important matters should be initiated and how best to support ACHD providers in these endeavours.

PMID: 32054552 [PubMed - as supplied by publisher]

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Indian Guidelines for Indications and Timing of Intervention for Common Congenital Heart Diseases: Revised and Updated Consensus Statement of the Working Group on Management of Congenital Heart Diseases. Abridged Secondary Publication.

Indian Pediatr. 2020 Feb 15;57(2):143-157

Authors: Saxena A, Relan J, Agarwal R, Awasthy N, Azad S, Chakrabarty M, Dagar KS, Devagourou V, Dharan BS, Gupta SK, Iyer KS, Jayranganath M, Joshi R, Kannan BRJ, Katewa A, Kohli V, Koneti NR, Kothari SS, Krishnamoorthy KM, Kulkarni S, Kumar RM, Kumar RK, Maheshwari S, Manohar K, Marwah A, Mishra S, Mohanty SR, Murthy KS, Suresh PV, Radhakrishnan S, Rajashekar P, Ramakrishnan S, Rao N, Rao SG, Reddy CH, Sharma R, Shivaprakasha K, Subramanyan R, Kumar RS, Talwar S, Tomar M, Verma S, Raju V, Working group on Management of Congenital Heart Disease in India

JUSTIFICATION: A number of guidelines are available for management of congenital heart diseases from infancy to adult life. However, these guidelines are for patients living in high income countries. Separate guidelines, applicable to Indian children, are required when recommending an intervention for congenital heart diseases, as often these patients present late in the course of the disease and may have co-existing morbidities and malnutrition.
PROCESS: Guidelines emerged following expert deliberations at the National Consensus Meeting on Management of Congenital Heart Diseases in India, held on 10th and 11th of August 2018 at the All India Institute of Medical Sciences, New Delhi. The meeting was supported by Children's HeartLink, a non-governmental organization based in Minnesota, USA.
OBJECTIVES: To frame evidence based guidelines for (i) indications and optimal timing of intervention in common congenital heart diseases; (ii) follow-up protocols for patients who have undergone cardiac surgery/catheter interventions for congenital heart diseases.
RECOMMENDATIONS: Evidence based recommendations are provided for indications and timing of intervention in common congenital heart diseases, including left-to-right shunts (atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent ductus arteriosus and others), obstructive lesions (pulmonary stenosis, aortic stenosis and coarctation of aorta) and cyanotic congenital heart diseases (tetralogy of Fallot, transposition of great arteries, univentricular hearts, total anomalous pulmonary venous connection, Ebstein anomaly and others). In addition, protocols for follow-up of post surgical patients are also described, disease wise.

PMID: 32060242 [PubMed - in process]

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Causes of fetal third-degree atrioventricular block and use of hydroxychloroquine in pregnant women with Ro/La antibodies.

Clin Rheumatol. 2019 Aug;38(8):2211-2217

Authors: Mollerach FB, Scolnik M, Catoggio LJ, Rosa J, Soriano ER

INTRODUCTION/OBJECTIVES: Complete congenital atrioventricular block (AVB) may be due to cardiac malformations or the presence of maternal antibodies (autoimmune AVB). Our objective was to estimate the prevalence of autoimmune AVB among all AVB in newborns treated at our hospital. Secondly, we estimated the prevalence of AVB among mothers with anti-Ro/La antibodies and examined the relationship of those fetal AVB with mother's use of hydroxychloroquine during pregnancy.
METHODS: Retrospective cohort in which we reviewed electronic medical records from years 2000 to 2014 of (a) all mothers with children born with third degree AVB and (b) all pregnant women with anti-Ro/La-positive antibodies.
RESULTS: Twenty-three AVBs were diagnosed. Ten (43.5%, 95% CI 23.2-65.5) were associated with maternal rheumatologic disease. The remaining 13 were associated with cardiac malformations. Sixty-two pregnancies in 47 mothers with Ro/La antibodies were identified; eight (12.9%, 95% CI 5.7-23.8) suffered AVB. Fourteen mothers consumed hydroxychloroquine during full pregnancy (one newborn (7.1%) suffered AVB) and 48 did not (7 newborns with AVB (14.6%); p = 0.5).
CONCLUSIONS: All congenital AVB diagnosed at our hospital without cardiac malformations were associated with a maternal rheumatologic disease/antibodies. Therefore, if a AVB is diagnosed in a newborn without structural heart disease, the mother should be studied for an autoimmune disease. We found a high prevalence of AVB among mothers with anti-Ro/La antibodies. Although not statistically significant, AVBs in mothers with Ro/La antibodies were numerically more frequent in those not using hydroxychloroquine.Key Points• Although structural heart malformations were the predominant cause of third-degree AVB, autoimmune AVB was still a significant cause.• The distinction between structural or non-structural cause of AVB constitutes an essential issue since it determines the prognostic of these fetuses in terms of complications.• Although not statistically significant, AVBs in mothers with Ro/La antibodies were more frequent in those not using hydroxychloroquine.• If an AVB is diagnosed in a newborn without structural heart disease, the mother should be studied for an autoimmune disease.

PMID: 30997589 [PubMed - indexed for MEDLINE]