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Ruptured sinus of Valsalva aneurysm with tetralogy of Fallot in an adult.

J Card Surg. 2018 Sep 02;:

Authors: Talwar S, Chigurupati BS, Choudhary SK

A combination of ruptured sinus of Valsalva (RSOV) aneurysm with tetralogy of Fallot (TOF) is a very rare condition. We report a 32-year-old male who underwent repair of a RSOV aneurysm with TOF.

PMID: 30175470 [PubMed - as supplied by publisher]

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First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review.

J Obstet Gynaecol Res. 2018 Mar;44(3):570-575

Authors: Guterman S, Hervé B, Rivière J, Fauvert D, Clement P, Vialard F

Kleefstra syndrome (KS) is characterized by developmental delay, intellectual disability, hypotonia and distinct facial features. Additional clinical features include congenital heart defects, cerebral abnormalities, urogenital defects and weight gain. The syndrome is caused by a microdeletion in chromosomal region 9q34.3 (in 85% of cases) or by a mutation in the EHMT1 gene coding for euchromatin histone methyltransferase 1. The prenatal phenotype has not yet been characterized. Herein, we sought to define this phenotype on the basis of a new case report and literature review.

PMID: 29160022 [PubMed - indexed for MEDLINE]

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Pulmonary artery dilatation in congenital heart disease: Size doesn't matter.

Int J Cardiol. 2018 Aug 23;:

Authors: Greutmann M

PMID: 30177234 [PubMed - as supplied by publisher]

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Sudden Death Due to Thoracic Aortic Dissection in Young People: A Multicenter Forensic Study.

Rev Esp Cardiol (Engl Ed). 2018 Aug 31;:

Authors: Morentin Campillo B, Molina Aguilar P, Monzó Blasco A, Laborda Gálvez JL, Arrieta Pérez J, Sancho Jiménez J, Lamas Ruiz J, Lucena Romero J

INTRODUCTION AND OBJECTIVES: Thoracic aortic dissection (TAD) is infrequent in young people and its characteristics differ from those in the adult population. This study aimed to analyze the clinical and pathological characteristics of sudden death due to TAD in people aged 1 to 35 years.
METHODS: Multicenter population-based study based on forensic autopsies conducted in the provinces of Biscay (1991-2016), Valencia (2000-2016), and Seville (2004-2016).
RESULTS: We identified 35 individuals with sudden death due to TAD (80% males), with a mean age of 29±5 years. The incidence was 0.09/100 000 inhabitants/y. Eighteen persons had at least 1 risk factor for TAD, and this figure increased to 29 when postmortem findings were included: congenital heart disease (n=16), suspicion of familial TAD (n=11), cocaine use (n=6), and hypertension (n=5). Twenty-four individuals, 12 with at least 1 risk factor, had prodromal symptoms, and 16 of them visited their physician, but TAD was not suspected in any of them. The most frequent symptom was chest pain (n=12). The main autopsy findings were cystic degeneration of the media (n=27), dilatation of the ascending aorta (n=21), cardiac hypertrophy (n=20), and bicuspid aortic valve (n=14).
CONCLUSIONS: The incidence of sudden death due to TAD in young people was very low. The most frequent risk factors were congenital heart disease followed by suspicion of familial TAD and cocaine use. TAD should be included in the differential diagnosis of chest pain in young people, mainly male patients with at least 1 risk factor.

PMID: 30177458 [PubMed - as supplied by publisher]

Cardiac Stem Cell Characteristics in Physiological and Pathological Conditions.

Curr Pharm Des. 2018 Sep 03;:

Authors: Ozturk S, Elcin YM

For nearly a century, the adult heart was considered as a post-mitotic organ. The discovery of a resident cardiac stem cell (CSC) population in the heart has dramatically undermined this notion with the support of encouraging preclinical and clinical studies aiming to regenerate the damaged heart after a myocardial infarction (MI). There are two ways to obtain CSCs for transplantation: Allogeneic and autologous sources. Autologous cells may be obtained from the patients' own tissue. Obtaining cells from diseased patients may contain a risk for altered stem cell characteristics. In addition to MI, these patients may also suffer from pathological conditions such as hypertension, diabetes mellitus, heart failure, congenital heart disease or cancer, which are known to alter CSC characteristics. It is also known that physiological conditions such as aging and death affect CSC functions in the heart. Our knowledge about the CSC characteristics in various physiological and pathological conditions may shed light on our opinion about the regenerative capacity and biological activity of these cells in these situations. Defining these properties may guide the researchers and clinicians for choosing and obtaining the most qualified CSC populations for cardiac regenerative medicine therapies. The purpose of this review is to describe the alterations in CSC characteristics in various physiological and pathological conditions.

PMID: 30179126 [PubMed - as supplied by publisher]

Gastrointestinal presentation of Kawasaki disease: A red flag for severe disease?

PLoS One. 2018;13(9):e0202658

Authors: Fabi M, Corinaldesi E, Pierantoni L, Mazzoni E, Landini C, Bigucci B, Ancora G, Malaigia L, Bodnar T, Di Fazzio G, Lami F, Valletta E, Cicero C, Biasucci G, Iughetti L, Marchetti F, Sogno Valin P, Amarri S, Brusa S, Sprocati M, Maggiore G, Dormi A, Lanzoni P, Donti A, Lanari M

BACKGROUND: Kawasaki disease (KD) is a febrile systemic vasculitis of unknown etiology and the main cause of acquired heart disease among children in the developed world. To date, abdominal involvement at presentation is not recognized as a risk factor for a more severe form of the disease.
OBJECTIVE: To evaluate whether presenting abdominal manifestations identify a group at major risk for Intravenous immunoglobulin (IVIG)-resistance and coronary lesions.
METHODS: Retrospective study of KD patients diagnosed between 2000 and 2015 in 13 pediatric units in Italy. Patients were divided into 2 groups according to the presence or absence of abdominal manifestations at onset. We compared their demographic and clinical data, IVIG-responsiveness, coronary ectasia/aneurysms, laboratory findings from the acute and subacute phases.
RESULTS: 302 patients (181 boys) were enrolled: 106 patients with, and 196 patients without presenting abdominal features. Seasonality was different between the groups (p = 0.034). Patients with abdominal manifestations were younger (p = 0.006) and more frequently underwent delayed treatment (p = 0.014). In the acute phase, patients with abdominal presentation had higher platelet counts (PLT) (p = 0.042) and lower albuminemia (p = 0.009), while, in the subacute phase, they had higher white blood cell counts (WBC) and PLT (p = 0.002 and p < 0.005, respectively) and lower red blood cell counts (RBC) and hemoglobin (Hb) (p = 0.031 and p 0.009). Moreover, the above mentioned group was more likely to be IVIG-resistant (p < 0.005) and have coronary aneurysms (p = 0.007). In the multivariate analysis, presenting abdominal manifestations, age younger than 6 months, IVIG- resistance, delayed treatment and albumin concentration in the acute phase were independent risk factors for coronary aneurysms (respectively p<0.005, <0.005, = 0.005 and 0.009).
CONCLUSIONS: This is the first multicenter report demonstrating that presenting gastrointestinal features in KD identify patients at higher risk for IVIG-resistance and for the development of coronary aneurysms in a predominantly Caucasian population.

PMID: 30180185 [PubMed - in process]

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Isolated Single Umbilical Artery and Fetal Echocardiography: A 25-Year Experience at a Tertiary Care City Hospital.

J Ultrasound Med. 2018 Feb;37(2):463-468

Authors: Gurram P, Figueroa R, Sipusic E, Kuhnly N, Clark S, Janicki MB

OBJECTIVES: To review our 25-year experience with a single umbilical artery and fetal echocardiography to estimate the need for this test in cases of an isolated single umbilical artery.
METHODS: We conducted a retrospective review of 436 patients with a diagnosis of a single umbilical artery at our institution between 1990 and 2015. Two hundred eighty-eight women had both an anatomic survey and a fetal echocardiogram. Pregnancies with concurrent extracardiac anomalies or aneuploidy were excluded. The study population was divided into 3 groups based on cardiac views on the anatomic survey: normal, incomplete, and suspicious. Echocardiographic results were compared among the 3 groups. The primary outcome measure was the incidence of cardiac anomalies in the normal group at fetal echocardiography. The data were analyzed by the χ2 test or Fisher exact test.
RESULTS: The mean maternal age ± SD of the group was 29.2 ± 6.2 years; 44.1% were primiparas. The mean gestational age at diagnosis was 22.6 ± 5.2 weeks, and the mean gestational age at fetal echocardiography was 25.1 ± 3.6 weeks. In the normal group, 99.1% (230 of 232) of women had a normal fetal echocardiogram; the 2 abnormal cases were ventricular septal defects. Normal echocardiograms were obtained in 81.8% (36 of 44) and 25.0% (3 of 12) of the "incomplete" and "suspicious" groups, respectively.
CONCLUSIONS: Fetuses with a single umbilical artery, in the absence of structural abnormalities, and with normal cardiac views at the time of the anatomic survey do not warrant an echocardiogram.

PMID: 28850695 [PubMed - indexed for MEDLINE]

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A single-center experience with 12 consecutive cases of pregnancy among patients with membranous ventricular septal aneurysm.

BMC Pregnancy Childbirth. 2018 01 03;18(1):8

Authors: Wang K, Wang X, Yu H, Liu X, Xing A, You Y

BACKGROUND: Membranous ventricular septal aneurysm (MVSA) is a rare cardiac anomaly that can occur as an isolated entity or being associated with other cardiac malformations. Complications of MVSA include thromboembolism, arrhythmia, rupture, bacterial endocarditis, right ventricular outflow tract obstruction, and atrioventricular valve diseases.The success rate of pregnancy and delivery in patients with MVSA has not been reported in the literature. This study was to assess the clinical implications of this condition from our center's experience.
METHODS: This was a retrospective study for consecutive 12 pregnancies in women with MVSA, who delivered at a tertiary care center in west China between May 2008 and March 2015.
RESULTS: All patients with MVSA delivered via caesarian section. One patient with severe pulmonary arterial hypertension expired from pulmonary infection and heart failure after delivery. One patient terminated pregnancy in the second trimester- necessitated by cardiogenic shock. The other mothers had varying degrees of cardiac morbidity, but survived. Ten of thirteen newborns survived. Congenital heart disease and small-for-gestational-age (SGA) of newborn occurred in two cases (one twin and one single gestation). Two of these babies expired.
CONCLUSIONS: Maternal and neonatal risk appeared associated with heart functional classifications, pulmonary hypertension and histories of cardiac events such as serious cardiac arrhythmia. Accurate diagnosis and care by a multidisciplinary team is recommended for pregnant woman with MVSA.

PMID: 29298686 [PubMed - indexed for MEDLINE]

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New onset seizures in a patient with Long QT Syndrome (LQTS2) and a pathogenic carboxyl-terminus frameshift variant of the KCNH2 gene.

J Clin Neurosci. 2018 Jul;53:253-255

Authors: Zarroli K, Querfurth H

In patients with Long QT Syndrome (LQTS), mutations in the potassium channel KCNH2 gene increase seizure susceptibility with missense mutations involving the pore region of the gene acting as a positive predictor of seizures. Seizures are less commonly reported in patients with carboxyl (C')-terminus mutations. This case report describes a young man who presented with syncope followed by a first seizure and was found to have LQTS caused by a pathogenic carboxyl-terminus deletion/frameshifting mutation of the KCNH2 gene. He later had a second seizure after anti-seizure medication taper. This mutation has not previously been reported associated with seizures. Our case suggests that, in patients with this type of C'-terminus mutation and a first seizure or syncope, there is a susceptibility to epilepsy. As inherited congenital heart disease may be a risk factor for sudden unexpected death in epilepsy (SUDEP), attention to all specific genetic markers in a young patient with QT prolongation and a first seizure could guide the use of anti-seizure medication to reduce the risk of SUDEP.

PMID: 29739726 [PubMed - indexed for MEDLINE]

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Twenty-three year-old with pleuritic chest pain.

Heart. 2018 Sep 04;:

Authors: Gopaul KP, Parry HM, Cullington D

CLINICAL INTRODUCTION: A 23-year-old woman followed at another medical centre for congenital heart disease (CHD) presented to our emergency clinic with 3 weeks of bilateral pleuritic chest pain. She returned from holiday in Greece 6 weeks earlier where a tattoo and nasal piercing had been performed. There was no history of night sweats or fever.Her temperature was 37.5°C, heart rate 120 beats/min, oxygen saturations 94% on room air and blood pressure 110/74. Her chest was clear and there was systolic murmur on auscultation. The chest radiograph showed peripheral bilateral lower zone atelectasis. The ECG demonstrated sinus tachycardia. The haemoglobin was 11.2 g/dL, white cell count 10.18×109/L, C-reactive protein 67 mg/L (normal <5 mg/L) and D dimer=430 ng/mL (normal <230 ng/mL).A pulmonary embolus was suspected and a CT pulmonary angiogram was performed (figure 1).
QUESTION: Based on the CT findings, what is the most likely underlying congenital heart lesion in this patient?Bicuspid aortic valveCoarctation of the aortaFontan circulationParachute mitral valveVentricular septal defect heartjnl;heartjnl-2017-312718v1/F1F1F1Figure 1CT pulmonary angiogram (coronal views).

PMID: 30181200 [PubMed - as supplied by publisher]