Left Ventricular Non-compaction: Is It Genetic?

Ting, Teck Wah; Jamuar, Saumya Shekhar; Brett, Maggie; Tan, Ee Shien; Cham, Breana; Lim, Jiin Ying; Law, Hai Yang; Tan, Ene Choo; Choo, Jonathan Tze Liang; Lai, Angeline

doi:10.1007/s00246-015-1222-5

Cited by 12 publications

(14 citation statements)

References 44 publications

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“…We appreciate the interest shown by Finsterer et al in our article [1]. We agree with Finsterer et al that not all cases of left ventricular non-compaction (LVNC) are due to genetic etiologies.…”

supporting

confidence: 81%

Response to Letter by Finsterer and Zarrouk

Ting

Jamuar

2015

Pediatr Cardiol

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supporting

confidence: 81%

Response to Letter by Finsterer and Zarrouk

Ting

Jamuar

2015

Pediatr Cardiol

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“…Patients with NCM and Barth syndrome have associated skeletal myopathy, neutropenia, pre-pubertal growth delay, and cardiomyopathy. 170, 171 …”

Section: Noncompaction Cardiomyopathymentioning

confidence: 99%

Pediatric Cardiomyopathies

Lee

Hsu

Kantor

et al. 2017

Circulation Research

247

218

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Pediatric cardiomyopathies are rare diseases with an annual incidence of 1.1–1.5 per 100,000. Dilated and hypertrophic cardiomyopathies are the most common; restrictive, noncompaction, and mixed cardiomyopathies occur infrequently; and arrhythmogenic right ventricular cardiomyopathy is rare. Pediatric cardiomyopathies can result from coronary artery abnormalities, tachyarrhythmias, exposure to infection or toxins, or secondary to other underlying disorders. Increasingly, the importance of genetic mutations in the pathogenesis of isolated or syndromic pediatric cardiomyopathies is becoming apparent. Pediatric cardiomyopathies often occur in the absence of co-morbidities such as atherosclerosis, hypertension, renal dysfunction, and diabetes; as a result, they offer insights into the primary pathogenesis of myocardial dysfunction. Large international registries have characterized the epidemiology, etiology, and outcomes of pediatric cardiomyopathies. Although adult and pediatric cardiomyopathies have similar morphologic and clinical manifestations, their outcomes differ significantly. Within two years of presentation, normalization of function occurs in 20% of children with dilated cardiomyopathy, and 40% die or undergo transplantation. Infants with hypertrophic cardiomyopathy have a two-year mortality of 30%, whereas death is rare in older children. Sudden death is rare. Molecular evidence indicates that gene expression differs between adult and pediatric cardiomyopathies, suggesting treatment response may differ as well. Clinical trials to support evidence-based treatments and the development of disease-specific therapies for pediatric cardiomyopathies are in their infancy. This compendium summarizes current knowledge of the genetic and molecular origins, clinical course, and outcomes of the most common phenotypic presentations of pediatric cardiomyopathies, and highlights key areas where additional research is required.

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“…LVNCM is a rare form of cardiomyopathy which has been described more recently in the literature. Most of the studies relating to the etiology of LVNCM come from experimental animal models and data from adult patients [3].…”

Section: Discussionmentioning

confidence: 99%

“…Left ventricular noncompaction (LVNCM) is rare and is said to affect 0.14% of the pediatric population and has been reported in association with heterogeneous etiological conditions, which include a wide number of genetic disorders [3]. LVNCM can be sporadic or familial.…”

Section: Discussionmentioning

confidence: 99%

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A case of reversible cardiomyopathy & left ventricular noncompaction

Amira¹,

Abdelbasit²,

Seidahmed³

et al. 2016

J Integr Cardiol

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This is a report of a female newborn baby who presented at the age of one hour after birth with signs of respiratory distress with marked cyanosis. The critical condition of the baby and the stormy course of the disorder highlighted the importance of starting immediate management and establishing an etiological diagnosis, as this will make the difference in the outcome and the prognosis. Clinical presentationThis was a female infant born at term after an uneventful pregnancy. Antenatal ultrasound did not show fetal anomaly and antenatal serology for infectious diseases was not significant. High vaginal swab from the mother was negative for group B streptococcus. Delivery was by elective Caesarean section because of previous section. Apgar Score was 9 and 10 at 1 and 5 minutes respectively. Birth weight was 2230 grams but the baby was vigorous with an oxygen saturation of 95% in room air at 15 minutes and was eventually sent to the normal newborn nursery.At the age of one hour the pediatric doctor was called because the baby was showing signs of respiratory distress with marked cyanosis and an oxygen saturation ranging from 70% to 80% in room air. Clinical examination revealed no signs of dysmorphism but the baby was showing respiratory distress with marked cyanosis. There were no abnormal findings on examination of the cardiovascular system. On admission to the neonatal intensive care unit (NICU) the baby was started on nasal continuous positive airway pressure (nCPAP) of 6 cm H 2 O, FiO 2 of 0.3 but the oxygen saturation (SaO 2 ) remained unchanged at 80% and below. Blood gases at that time showed a pH of 7.12, pCO 2 of 45 mm Hg and a bicarbonate of 14 mmol/I with a base deficit of -13. With the increasing requirements of oxygen the baby was shifted from nCPAP to mechanical ventilation. In spite of reaching an inspiratory pressure of 26 cm H 2 O the baby remained hypoxemic at which point a diagnosis of persistent pulmonary hypertension (PPHN) was entertained and high frequency oscillatory ventilation (HFOV) was started together with inhaled nitric oxide. Soon after admission the baby was noticed to have systemic hypotension requiring inotropic therapy. Dopamine and dobutamine were titrated to a maximum of 20 micrograms per kilogram per minute after which epinephrine and hydrocortisone were instituted consecutively because of persistent hypotension. At this point the differential diagnosis rested between cyanotic congenital heart disease, septic shock or metabolic disorder and antibiotics were started.On interviewing the family it was revealed that the parents were first-degree cousins with five living children but one of the siblings who was a male infant expired at the age of two days and the death was attributed to possible hypoxic ischemic encephalopathy, septic shock or a metabolic disorder most likely adrenal insufficiency.Taking into account the clinical presentation and the family history the baby was investigated accordingly. A chest radiograph revealed normal lung fields with no cardiomegaly. I...

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Left Ventricular Non-compaction: Is It Genetic?

Cited by 12 publications

References 44 publications

Response to Letter by Finsterer and Zarrouk

Response to Letter by Finsterer and Zarrouk

Pediatric Cardiomyopathies

A case of reversible cardiomyopathy & left ventricular noncompaction

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