Syncope in a Child with Pulmonary Hypertension and Positive Gene Tests for Hereditary Hemorrhagic Telangiectasia and Long QT Syndrome

2020 ◽  
Vol 18 (1) ◽  
pp. 70-76
Author(s):  
Bibhuti B. Das ◽  
Kak-Chen Chan
Keyword(s):  
Pulmonary Hypertension ◽  
Long Qt Syndrome ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Pulmonary Angiography ◽  
Right Heart Catheterization ◽  
Heart Catheterization ◽  
Long Qt ◽  
Ct Angiogram ◽  
History Of ◽  
Qt Syndrome

We present a 10-year-old boy with syncope who was found to have long-QT syndrome and severe Pulmonary Hypertension (PH) both in the absence of a secondary cause; to our knowledge, this is the first report with this unusual coexistence. His genetic tests were positive for hereditary hemorrhagic telangiectasia and Long QT Syndrome (LQTS) without any family history of PH or LQTS. We demonstrated that digital subtraction pulmonary angiography was more useful compared to CT angiogram to demonstrate pulmonary vascular changes which correlated with a noresponse to acute vasoreactivity testing during right heart catheterization. He has been stable for the last 2 years on Ambrisentan, Sildenafil, and Nadolol without recurrence of symptoms.

scholarly journals Paediatric/young versus adult patients with long QT syndrome

Open Heart ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. e001671
Author(s):  
Sharen Lee ◽  
Jiandong Zhou ◽  
Kamalan Jeevaratnam ◽  
Wing Tak Wong ◽  
Ian Chi Kei Wong ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Primary Outcome ◽  
Population Based ◽  
Public Hospitals ◽  
Qtc Interval ◽  
Onset Age ◽  
Long Qt ◽  
History Of ◽  
Qt Syndrome ◽  
Random Survival Forest

IntroductionLong QT syndrome (LQTS) is a less prevalent cardiac ion channelopathy than Brugada syndrome in Asia. The present study compared the outcomes between paediatric/young and adult LQTS patients.MethodsThis was a population-based retrospective cohort study of consecutive patients diagnosed with LQTS attending public hospitals in Hong Kong. The primary outcome was spontaneous ventricular tachycardia/ventricular fibrillation (VT/VF).ResultsA total of 142 LQTS (mean onset age=27±23 years old) were included. Arrhythmias other than VT/VF (HR 4.67, 95% CI (1.53 to 14.3), p=0.007), initial VT/VF (HR=3.25 (95% CI 1.29 to 8.16), p=0.012) and Schwartz score (HR=1.90 (95% CI 1.11 to 3.26), p=0.020) were predictive of the primary outcome for the overall cohort, while arrhythmias other than VT/VF (HR=5.41 (95% CI 1.36 to 21.4), p=0.016) and Schwartz score (HR=4.67 (95% CI 1.48 to 14.7), p=0.009) were predictive for the adult subgroup (>25 years old; n=58). A random survival forest model identified initial VT/VF, Schwartz score, initial QTc interval, family history of LQTS, initially asymptomatic and arrhythmias other than VT/VF as the most important variables for risk prediction.ConclusionClinical and ECG presentation varies between the paediatric/young and adult LQTS population. Machine learning models achieved more accurate VT/VF prediction.

scholarly journals The natural history of fetal long QT syndrome

2016 ◽  
Vol 49 (6) ◽  
pp. 807-813 ◽  
Author(s):  
Bettina F. Cuneo ◽  
Janette F. Strasburger ◽  
Ronald T. Wakai
Keyword(s):  
Natural History ◽  
Long Qt Syndrome ◽  
Long Qt ◽  
History Of ◽  
Qt Syndrome

ECG patterns related to arrhythmias and sudden death: channelopathies, early repolarization, and pre-excitation

ESC CardioMed ◽  
2018 ◽  
pp. 382-389
Author(s):  
Wojciech Zareba ◽  
Pyotr Platonov
Keyword(s):  
Sudden Death ◽  
Long Qt Syndrome ◽  
Ventricular Arrhythmias ◽  
Prior History ◽  
Long Qt ◽  
Early Repolarization ◽  
Genes Encoding ◽  
History Of ◽  
Qt Syndrome ◽  
Characteristic Features

Electrocardiogram (ECG) patterns recognized in patients with sudden death without structural abnormalities in the heart have guided cardiology over the last few decades towards a better understanding of the role of cardiac ion channels in physiology and in arrhythmogenicity in rare electrical diseases. The long QT syndrome became the paradigm for evaluating the association between specific ion channel abnormalities caused by mutations in genes encoding predominantly potassium and sodium channels and phenotypic ECG expression. Specific ECG patterns observed in long QT syndrome help in diagnosis and improve prognosis in patients affected by this disorder. Short QT syndrome also is characterized by specific patterns in repolarization morphology that relate to affected potassium current or calcium handling genes. Brugada syndrome and early repolarization syndrome are considered as J-wave syndromes, having some similarities in ECG features but with distinctive patterns associated with classical forms of these disorders. Spontaneous appearance of cove-type Brugada pattern is associated with a worse prognosis. Early repolarization patterns may also indicate prognosis in subjects with a prior history of cardiac arrest or ventricular arrhythmias or a family history of cardiac arrests. Catecholaminergic polymorphic ventricular tachycardia is another channelopathy without characteristic features in standard resting ECG but with characteristic polymorphic ventricular arrhythmias during catecholaminergic challenge (exercise test, stressing situations). Pre-excitation syndromes associated with sudden cardiac death are well recognized and current understanding of these disorders leads to a better therapy.

scholarly journals Pulmonary Vascular Underperfusion Score in Premature Infants with Bronchopulmonary Dysplasia and Pulmonary Hypertension

Medicina ◽  
2019 ◽  
Vol 55 (7) ◽  
pp. 359
Author(s):  
Das ◽  
Jadotte ◽  
Chan
Keyword(s):  
Pulmonary Hypertension ◽  
Bronchopulmonary Dysplasia ◽  
Imaging Modality ◽  
Pulmonary Angiography ◽  
Right Heart Catheterization ◽  
Pulmonary Vasculature ◽  
Heart Catheterization ◽  
Vascular Changes ◽  
Cardiac Hemodynamics ◽  
Underlying Pathophysiology

Pulmonary hypertension (PH) is a complication of bronchopulmonary dysplasia (BPD). The underlying pathophysiology of BPD-associated PH is complex and poorly understood. Echocardiogram may underestimate the severity of pulmonary hypertensive vascular disease in severe BPD. Digital subtraction pulmonary angiography (DSPA) is a potentially useful imaging modality for evaluating changes in the pulmonary vasculature of BPD-associated PH. In this study, we objectively quantified the pulmonary hypertensive vascular changes demonstrated by DSPA using a novel pulmonary vascular underperfusion score (PVUS) and correlated the scoring system with echocardiography parameters and cardiac hemodynamics by right heart catheterization.

scholarly journals Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding site

EP Europace ◽  
2019 ◽  
Vol 21 (11) ◽  
pp. 1725-1732 ◽  
Author(s):  
Greg J Mellor ◽  
Pankaj Panwar ◽  
Andrea K Lee ◽  
Christian Steinberg ◽  
Julie A Hathaway ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Rare Variants ◽  
Clinical Information ◽  
Long Qt ◽  
T Wave ◽  
Pathogenic Variants ◽  
Loop Region ◽  
Wave Morphology ◽  
History Of ◽  
Qt Syndrome

Abstract Aims Pathogenic gain-of-function variants in CACAN1C cause type-8 long QT syndrome (LQT8). We sought to describe the electrocardiographic features in LQT8 and utilize molecular modelling to gain mechanistic insights into its genetic culprits. Methods and results Rare variants in CACNA1C were identified from genetic testing laboratories. Treating physicians provided clinical information. Variant pathogenicity was independently assessed according to recent guidelines. Pathogenic (P) and likely pathogenic (LP) variants were mapped onto a 3D modelled structure of the Cav1.2 protein. Nine P/LP variants, identified in 23 patients from 19 families with non-syndromic LQTS were identified. Six variants, found in 79% of families, clustered to a 4-residue section in the cytosolic II–III loop region which forms a region capable of binding STAC SH3 domains. Therefore, variants may affect binding of SH3-domain containing proteins. Arrhythmic events occurred in similar proportions of patients with II–III loop variants and with other P/LP variants (53% vs. 48%, P = 0.41) despite shorter QTc intervals (477 ± 31 ms vs. 515 ± 37 ms, P = 0.03). A history of sudden death was reported only in families with II–III loop variants (60% vs. 0%, P = 0.03). The predominant T-wave morphology was a late peaking T wave with a steep descending limb. Exercise testing demonstrated QTc prolongation on standing and at 4 min recovery after exercise. Conclusion The majority of P/LP variants in patients with CACNA1C-mediated LQT8 cluster in an SH3-binding domain of the cytosolic II–III loop. This represents a ‘mutation hotspot’ in LQT8. A late-peaking T wave with a steep descending limb and QT prolongation on exercise are commonly seen.

The Long QT Syndrome: A Review and Mortality Analysis

2015 ◽  
Vol 45 (2) ◽  
pp. 81-87
Author(s):  
Steven J. Rigatti
Keyword(s):  
Mortality Risk ◽  
Long Qt Syndrome ◽  
Interval Length ◽  
Qtc Interval ◽  
Review Of Literature ◽  
Long Qt ◽  
Excess Death ◽  
History Of ◽  
Qt Syndrome ◽  
Mortality Analysis

Objective To provide a recent review of literature pertinent to the assessment of life risk for individuals with a history of long QT syndrome (LQTS) and assess the mortality risk of a subset of these patients. Methods Standard comparative mortality techniques were employed to analyze relevant survival curves. Results Mortality risk in LQTS varies by age, sex, QTc interval length, genotype, and history of symptoms. A narrowly-defined subgroup of LQTS patients, those over age 20 with no history of syncope prior to age 20 and a QTc of less than 500ms, have an excess death rate of 0.5 – 2.0 per thousand per year. Conclusions Though the risk of sudden cardiac death in those with a history of long QT syndrome persists, there are subgroups of patients for whom the excess risk is lower than has been reported for this group of patients as a whole.

scholarly journals Long QT syndrome and sudden unexpected infant death

2017 ◽  
Vol 70 (9) ◽  
pp. 808-813 ◽  
Author(s):  
Chantal Van Niekerk ◽  
Barbara Ströh Van Deventer ◽  
Lorraine du Toit-Prinsloo
Keyword(s):  
Long Qt Syndrome ◽  
Infant Death ◽  
Cardiac Death ◽  
Ventricular Tachyarrhythmias ◽  
Preventative Treatment ◽  
Long Qt ◽  
Qt Intervals ◽  
History Of ◽  
Qt Syndrome ◽  
Unexpected Infant Death

Long QT syndrome (LQTS) is an inheritable primary electric disease of the heart characterised by abnormally long QT intervals and a propensity to develop atrial and ventricular tachyarrhythmias. It is caused by an inherited channelopathy responsible for sudden cardiac death in individuals with structurally normal hearts. Long QT syndrome can present early in life, and some studies suggest that it may be associated with up to 20% of sudden unexplained infant death (SUID), particularly when associated with external stressors such as asphyxia, which is commonly seen in many infant death scenes. With an understanding of the genetic defects, it has now been possible to retrospectively analyse samples from infants who have presented to forensic pathology services with a history of unexplained sudden death, which may, in turn, enable the implementation of preventative treatment for siblings previously not known to have pathogenic genetic variations. In this viewpoint article, we will discuss SUID, LQTS and postmortem genetic analysis.

scholarly journals Acquired Long QT Syndrome after Acute Myocardial Infarction: A Rare but Potentially Fatal Entity

2020 ◽  
Vol 47 (2) ◽  
pp. 163-164
Author(s):  
Samuel S. Gordon ◽  
John Hollowed ◽  
Justin Hayase ◽  
Carlos Macias ◽  
Jessica Wang ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Long Qt Syndrome ◽  
Torsades De Pointes ◽  
Dna Testing ◽  
Long Qt ◽  
Negative Results ◽  
Electrolyte Disturbances ◽  
Acquired Long Qt Syndrome ◽  
History Of ◽  
Qt Syndrome

Acquired long QT syndrome is typically caused by medications, electrolyte disturbances, bradycardia, or catastrophic central nervous system events. We report a case of myocardial infarction–related acquired long QT syndrome in a 58-year-old woman that had no clear cause and progressed to torsades de pointes requiring treatment with isoproterenol and magnesium. Despite negative results of DNA testing against a known panel of genetic mutations and polymorphisms associated with long QT syndrome, the patient's family history of fatal cardiac disease suggests a predisposing genetic component. This report serves to remind clinicians of this potentially fatal ventricular arrhythmia after myocardial infarction.

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