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1.
BMJ Case Rep ; 14(9)2021 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-34544712

RESUMO

Congenital central hypoventilation syndrome (CCHS) is an uncommon genetic disease characterised by an autonomic nervous system dysfunction that affects ventilatory homeostasis. Involvement of other systems is also described, mainly cardiovascular, gastrointestinal and central nervous systems. We describe a rare case of CCHS diagnosed in a term newborn who presented with persistent apnoea in the first hours of life. After an exhaustive aetiological study excluding primary pulmonary, cardiac, metabolic and neurological diseases, this diagnosis was confirmed by a paired-like homeobox 2B gene sequence analysis. During hospitalisation, ventilation was optimised and multidisciplinary follow-up was initiated, including genetic counselling. At 2 months old, the child was discharged under non-invasive ventilation during sleep. This case illustrates the importance of early diagnosis, including genetic study and advances in home ventilation. These factors allow early hospital discharge and timely multidisciplinary intervention, which is crucial for patients' quality of life and outcome optimisation.


Assuntos
Apneia , Apneia do Sono Tipo Central , Criança , Proteínas de Homeodomínio/genética , Humanos , Hipoventilação/congênito , Hipoventilação/diagnóstico , Hipoventilação/genética , Lactente , Recém-Nascido , Qualidade de Vida , Apneia do Sono Tipo Central/diagnóstico , Apneia do Sono Tipo Central/genética , Apneia do Sono Tipo Central/terapia
2.
Clin Geriatr Med ; 37(3): 469-481, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34210451

RESUMO

Central sleep apnea (CSA) is characterized by intermittent repetitive cessation and/or decreased breathing without effort caused by an abnormal ventilatory drive. Although less prevalent than obstructive sleep apnea, it is frequently encountered. CSA can be primary (idiopathic) or secondary in association with Cheyne-Stokes respiration, drug-induced, medical conditions such as chronic renal failure, or high-altitude periodic breathing. Risk factors have been proposed, including gender, age, heart failure, opioid use, stroke, and other chronic medical conditions. This article discusses the prevalence of CSA in the general population and within each of these at-risk populations, and clinical presentation, diagnostic methods, and treatment.


Assuntos
Respiração de Cheyne-Stokes/fisiopatologia , Pressão Positiva Contínua nas Vias Aéreas/efeitos adversos , Apneia do Sono Tipo Central/diagnóstico , Apneia do Sono Tipo Central/terapia , Sono/fisiologia , Idoso , Humanos , Polissonografia , Prevalência , Qualidade de Vida , Apneia do Sono Tipo Central/epidemiologia
3.
Arch Bronconeumol ; 57(6): 393-398, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34088390

RESUMO

OBJECTIVE: To evaluate the impact of the body position on primary central sleep apnea syndrome. METHODS: Fifty-five subjects diagnosed with central sleep apnea (CSA) through polysomnographic examinations were prospectively enrolled in the study. All patients underwent cardiologic and neurologic examinations. Primary positional central sleep apnea (PCSA) was determined when the supine Apnea-Hypopnea Index (AHI) was greater than two times the non-supine AHI. The primary PCSA and non-PCSA groups were compared in terms of demographic characteristics, sleep parameters, and treatment approaches. RESULTS: Overall, 39 subjects diagnosed with primary CSA were included in the study; 61.5% of the subjects had primary PCSA. There were no differences between the primary PCSA and non-PCSA groups regarding age, sex, body mass index (BMI), co-morbidities, and history of septoplasty. In terms of polysomnography parameters, AHI (P=.001), oxygen desaturation index (P=.002), the time spent under 88% saturation during sleep (P=.003), number of obstructive apnea (P=.011), mixed apnea (P=.009), and central apnea (P=.007) was lower in the primary PCSA group than in the non-PCSA group. Twenty-nine percent of the patients in the primary PCSA group were recommended position treatment and 71% were recommended positive airway pressure (PAP) therapy; all patients in the non-PCSA group were recommended PAP therapy. CONCLUSIONS: Our results demonstrated that the rate of primary PCSA was high (61.5%) and primary PCSA was associated with milder disease severity compared with non-PCSA. The classification of patients with primary CSA regarding positional dependency may be helpful in terms of developing clinical approaches and treatment recommendations.


Assuntos
Síndromes da Apneia do Sono , Apneia do Sono Tipo Central , Apneia Obstrutiva do Sono , Humanos , Polissonografia , Postura , Apneia do Sono Tipo Central/diagnóstico , Apneia do Sono Tipo Central/terapia , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/terapia , Decúbito Dorsal
5.
Zh Nevrol Psikhiatr Im S S Korsakova ; 121(3. Vyp. 2): 29-32, 2021.
Artigo em Russo | MEDLINE | ID: mdl-33908229

RESUMO

A variety of structural and functional post-stroke disturbances demands an integrated clinical/diagnostic approach. Persistent hypoxemia due to disturbance of a saturation of blood oxygen in sleep can decrease the effectiveness of neurorehabilitation. In some cases of sleep apnea, the efficiency of continuous positive airway pressure therapy is insufficient and it should be combined with course neuroprotective therapy. Modern approaches to neuroprotective and neuroreparative therapy are considered as the independent direction for treatment of the central sleep apnea syndromes in patients with stroke consequences that is obviously important aspect of secondary prevention of a stroke.


Assuntos
Isquemia Encefálica , AVC Isquêmico , Síndromes da Apneia do Sono , Apneia do Sono Tipo Central , Acidente Vascular Cerebral , Isquemia Encefálica/complicações , Isquemia Encefálica/tratamento farmacológico , Humanos , Apneia do Sono Tipo Central/etiologia , Apneia do Sono Tipo Central/terapia , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/tratamento farmacológico
6.
Heart Lung ; 50(2): 344-351, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33524864

RESUMO

BACKGROUND: Despite the efficacy of adaptive servo-ventilation (ASV) in suppressing central sleep apnea (CSA), its impact on long-term outcomes is debatable. We aim to identify subjects with specific features who might benefit from ASV therapy. METHODS: Randomized clinical trials and comparative observational studies investigating the effects of ASV on cardiovascular (CV) and all-cause mortality and major adverse cardiovascular events (MACEs) in CSA patients were searched from PubMed, EMBASE, Cochrane library and Web of Science. Eligible studies were identified with relative risks (RR) of death and MACEs compared between patients treated by ASV and usual care. RESULTS: A total of eight studies (three randomized controlled trials and five observational studies) including 2208 participants were selected for analysis. All-cause and CV mortality were not significantly reduced by ASV. Patients with nadir nocturnal saturation ≤ 80% (mean value) had lower risk of MACEs by ASV treatment compared with by usual care (RR, 0.18; p < 0.001). Patients with severe heart failure (HF), defined as left ventricular ejection fraction (LVEF) ≤ 33% (mean value), or HF of New York Heart Association (NYHA) classification of III/IV, did not have reduced risk of MACEs post ASV therapy. However, subjects with LVEF > 33% (RR, 0.35; p < 0.001) or NYHA Ⅰ/Ⅱ (RR, 0.35; p < 0.001) had significantly lower risk of MACEs by using ASV than by usual care. CONCLUSIONS: Although ASV appears to not reduce CV and all-cause death for HF patients with extremely low LVEF, those with profound CSA associated hypoxemia or less severe HF still benefit from ASV therapy.


Assuntos
Insuficiência Cardíaca , Apneia do Sono Tipo Central , Insuficiência Cardíaca/terapia , Humanos , New York , Ensaios Clínicos Controlados Aleatórios como Assunto , Apneia do Sono Tipo Central/etiologia , Apneia do Sono Tipo Central/terapia , Volume Sistólico , Resultado do Tratamento , Função Ventricular Esquerda
7.
Chest ; 159(6): 2449-2457, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33497650

RESUMO

The purpose of this review was to describe our management approach to patients with treatment-emergent central sleep apnea (TECSA). The emergence of central sleep apnea during positive airway pressure therapy occurs in approximately 8% of titration studies for OSA, and it has been associated with several demographic, clinical, and polysomnographic factors, as well as factors related to the titration study itself. TECSA shares similar pathophysiology with central sleep apnea. In fact, central and OSA pathophysiologic mechanisms are inextricably intertwined, with ventilatory instability and upper airway narrowing occurring in both entities. TECSA is a "dynamic" process, with spontaneous resolution with ongoing positive airway pressure therapy in most patients, persistence in some, or appearing de novo in a minority of patients. Management strategy for TECSA aims to eliminate abnormal respiratory events, stabilize sleep architecture, and improve the underlying contributing medical comorbidities. CPAP therapy remains a standard therapy for TECSA. Expectant management is appropriate given its transient nature in most cases, whereas select patients would benefit from an early switch to an alternative positive airway pressure modality. Other treatment options include supplemental oxygen and pharmacologic therapy.


Assuntos
Emergências , Respiração com Pressão Positiva/normas , Apneia do Sono Tipo Central/terapia , Sono/fisiologia , Padrão de Cuidado , Humanos , Apneia do Sono Tipo Central/fisiopatologia , Resultado do Tratamento
8.
Sleep Med ; 79: 62-70, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33482454

RESUMO

INTRODUCTION: Nocturnal hypoxemia is associated with increased cardiovascular mortality. Here, we assess whether positive airway pressure by adaptive servo-ventilation (ASV) reduces nocturnal hypoxemic burden in patients with primary central sleep apnea (primary CSA), or heart failure related central sleep apnea (CSA-HF) and treatment emergent central sleep apnea (TECSA). METHODS: Overnight oximetry data from 328 consecutive patients who underwent ASV initiation between March 2010 and May 2018 were retrospectively analyzed. Patients were stratified into three groups: primary CSA (n = 14), CSA-HF (n = 31), TECSA (n = 129). Apnea hypopnea index (AHI) and time spent below 90% SpO2 (T90) was measured. Additionally, T90 due to acute episodic desaturations (T90Desaturation) and due to non-specific and non-cyclic drifts of SpO2 (T90Non-specific) were assessed. RESULTS: ASV reduced the AHI below 15/h in all groups. ASV treatment significantly shortened T90 in all three etiologies to a similar extent. T90Desaturation, but not T90Non-specific, was reduced by ASV across all three patient groups. AHI was identified as an independent modulator for ΔT90Desaturation upon ASV treatment (B (95% CI: -1.32 (-1.73; -0.91), p < 0.001), but not for ΔT90 or ΔT90Non-specific. Body mass index was one independent predictor of T90. CONCLUSIONS: Across different central sleep apnea etiologies, ASV reduced AHI, but nocturnal hypoxemic burden remained high due to a non-specific component of T90 not related to episodic desaturation. Whether adjunct risk factor management such as weight-loss can further reduce T90 warrants further study.


Assuntos
Insuficiência Cardíaca , Apneia do Sono Tipo Central , Pressão Positiva Contínua nas Vias Aéreas , Humanos , Respiração , Estudos Retrospectivos , Apneia do Sono Tipo Central/etiologia , Apneia do Sono Tipo Central/terapia , Resultado do Tratamento
11.
Chin Med J (Engl) ; 133(22): 2721-2730, 2020 Nov 20.
Artigo em Inglês | MEDLINE | ID: mdl-33009018

RESUMO

Treatment-emergent central sleep apnea (TECSA) is a specific form of sleep-disordered breathing, characterized by the emergence or persistence of central apneas during treatment for obstructive sleep apnea. The purpose of this review was to summarize the definition, epidemiology, potential mechanisms, clinical characteristics, and treatment of TECSA. We searched for relevant articles up to January 31, 2020, in the PubMed database. The prevalence of TECSA varied widely in different studies. The potential mechanisms leading to TECSA included ventilatory control instability, low arousal threshold, activation of lung stretch receptors, and prolonged circulation time. TECSA may be a self-limited disorder in some patients and could be resolved spontaneously over time with ongoing treatment of continuous positive airway pressure (CPAP). However, central apneas persist even with the regular CPAP therapy in some patients, and new treatment approaches such as adaptive servo-ventilation may be necessary. We concluded that several questions regarding TECSA remain, despite the findings of many studies, and it is necessary to carry out large surveys with basic scientific design and clinical trials for TECSA to clarify these irregularities. Further, it will be vital to evaluate the baseline demographic and polysomnographic data of TECSA patients more carefully and comprehensively.


Assuntos
Apneia do Sono Tipo Central , Apneia Obstrutiva do Sono , Pressão Positiva Contínua nas Vias Aéreas , Humanos , Pulmão , Respiração , Apneia do Sono Tipo Central/epidemiologia , Apneia do Sono Tipo Central/terapia
12.
J Clin Sleep Med ; 16(12): 2113-2116, 2020 12 15.
Artigo em Inglês | MEDLINE | ID: mdl-32895120

RESUMO

NONE: We report the case of a female patient aged 12 years referred to our pediatric sleep unit with a history of central sleep apnea associated with transient episodes of tachypnea on polysomnography recordings. The patient was otherwise healthy, with no personal or family medical history, and had a normal physical and neuropsychological examination. Brain magnetic resonance imaging showed signs of cerebellar vermis dysplasia but without the classical features of the molar tooth sign. The rest of the workup (genetic tests, blood tests, cardiac investigations) was normal except for an increased peripheral chemosensitivity to carbon dioxide and oxygen. The patient was successfully treated with bilevel positive airway pressure. This case report highlights the importance of performing brain magnetic resonance imaging in patients with central sleep apnea to study the cerebellum, beyond the brainstem area. Cerebellar malformations can be found even in the absence of any other neurological condition.


Assuntos
Anormalidades Múltiplas , Anormalidades do Olho , Doenças Renais Císticas , Apneia do Sono Tipo Central , Cerebelo/anormalidades , Cerebelo/diagnóstico por imagem , Criança , Anormalidades do Olho/complicações , Anormalidades do Olho/diagnóstico por imagem , Feminino , Humanos , Imageamento por Ressonância Magnética , Retina/anormalidades , Apneia do Sono Tipo Central/complicações , Apneia do Sono Tipo Central/terapia , Síndrome
13.
Orphanet J Rare Dis ; 15(1): 252, 2020 09 21.
Artigo em Inglês | MEDLINE | ID: mdl-32958024

RESUMO

BACKGROUND: Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families. Genes other than PHOX2B have been found responsible for CCHS in rare cases and there are as yet other unknown genes that may account for the disease. At present, management relies on lifelong ventilatory support and close follow up of dysautonomic progression. BODY: This paper provides a state-of-the-art comprehensive description of CCHS and of the components of diagnostic evaluation and multi-disciplinary management, as well as considerations for future research. CONCLUSION: Awareness and knowledge of the diagnosis and management of this rare disease should be brought to a large health community including adult physicians and health carers.


Assuntos
Hipoventilação/congênito , Apneia do Sono Tipo Central , Adulto , Criança , Proteínas de Homeodomínio/genética , Humanos , Hipoventilação/diagnóstico , Hipoventilação/genética , Hipoventilação/terapia , Mutação , Apneia do Sono Tipo Central/diagnóstico , Apneia do Sono Tipo Central/genética , Apneia do Sono Tipo Central/terapia , Fatores de Transcrição/genética
14.
J Clin Sleep Med ; 16(12): 2099-2107, 2020 12 15.
Artigo em Inglês | MEDLINE | ID: mdl-32946372

RESUMO

STUDY OBJECTIVES: Idiopathic central sleep apnea (ICSA) is a rare disorder diagnosed when known causes of central sleep apnea are excluded. No established treatments exist for ICSA, and long-term studies are lacking. We assessed the long-term effectiveness and safety of transvenous phrenic nerve stimulation in patients with ICSA. METHODS: In the remede System Pivotal Trial, 16/151 (11%) participants with central sleep apnea were diagnosed as having ICSA. Patients were implanted and followed through 18 months of active therapy. Polysomnograms obtained at baseline and at 6, 12, and 18 months were scored by a central laboratory. Sleep metrics and patient-reported quality of life outcomes were assessed. RESULTS: Patients experienced moderate-severe central sleep apnea. The baseline AHI, central apnea index, and arousal index were 40, 25, and 32 events/h of sleep, respectively. These metrics improved at 6, 12, and 18 months of therapy: the AHI decreased by 25, 25, and 23 events/h (P < .001 at each visit), the central apnea index by 22, 23, and 22 events/h (P < .001 at each visit), and the arousal index by 12 (P = .005), 11 (P = .035), and 13 events/h (P < .001). Quality of life instruments showed clinically meaningful improvements in daytime somnolence, fatigue, general and mental health, and social functioning. The only related serious adverse event was lead component failure in 1 patient. CONCLUSIONS: This is the longest prospective study for the treatment of ICSA. Transvenous phrenic nerve stimulation significantly decreased sleep-disordered breathing metrics with consequent improvement in quality of life at 6 months, and all benefits were sustained through 18 months. CLINICAL TRIAL REGISTRATION: Registry: ClinicalTrials.gov; Name: Respicardia, Inc. Pivotal Trial of the remede System; URL: https://clinicaltrials.gov/ct2/show/NCT01816776; Identifier: NCT01816776.


Assuntos
Terapia por Estimulação Elétrica , Nervo Frênico , Apneia do Sono Tipo Central , Adulto , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Qualidade de Vida , Apneia do Sono Tipo Central/complicações , Apneia do Sono Tipo Central/terapia , Resultado do Tratamento
15.
Curr Opin Pulm Med ; 26(6): 634-641, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32925368

RESUMO

PURPOSE OF REVIEW: Summarize the effects of opioids on sleep including sleep architecture, sleep disordered breathing (SDB) and restless legs syndrome. RECENT FINDINGS: Opioids are associated with the development of central sleep apnea (CSA) and ataxic breathing. Recent reports suggest that adaptive servo-ventilation may be an effective treatment for CSA associated with opioids. SUMMARY: Opioids have multiple effects on sleep, sleep architecture and SDB. Although originally described with methadone use, most commonly used opioids have also been shown to affect sleep. In patients on chronic methadone, sleep architecture changes include decreases in N3 and REM sleep. However, in patients with chronic nonmalignant pain, opioids improve sleep quality and sleep time. Opioids, generally at a morphine equivalent dose more than 100 mg/day, are associated with an increased incidence of CSA and ataxic breathing as well as obstructive sleep apnea. Other risk factors may include concomitant use of other medications such as antidepressants, gabapentinoids and benzodiazepines. Opioid-induced CSA can be potentially treated with adaptive servo-ventilation. Finally, opioids are a potential therapeutic option for restless legs syndrome unresponsive to dopamine agonists and other medications. However, use in patients with restless legs syndrome should proceed with caution, taking into account the risk for dependence and development of SDB.


Assuntos
Analgésicos Opioides/farmacologia , Apneia do Sono Tipo Central/induzido quimicamente , Apneia Obstrutiva do Sono/induzido quimicamente , Sono/efeitos dos fármacos , Analgésicos Opioides/efeitos adversos , Humanos , Ventilação não Invasiva , Síndrome das Pernas Inquietas/tratamento farmacológico , Síndromes da Apneia do Sono/induzido quimicamente , Apneia do Sono Tipo Central/terapia
16.
J Clin Sleep Med ; 16(12): 2123-2125, 2020 12 15.
Artigo em Inglês | MEDLINE | ID: mdl-32969335

RESUMO

NONE: Diaphragm pacing (DP), a modality of ventilatory support in children with congenital central hypoventilation syndrome, generates respiration using the patient's own diaphragm as the respiratory pump. We report a 14-year-old boy with congenital central hypoventilation syndrome who uses DP with an uncapped tracheostomy during sleep. Polysomnography to titrate DP settings identified artifacts occurring in regular intervals coinciding with the onset of inspiration during all sleep stages in several channels including legs, snore, and electrocardiogram. Clinicians interpreting polysomnograms performed during DP should become familiar with the multichannel artifacts due to DP impulses. We also identified that our patient was hyperventilated on home DP settings that led to adjustment of DP settings during the polysomnogram to achieve optimal oxygenation and ventilation. Our case also highlights the utility of polysomnography to ensure optimal gas exchange during sleep in children with congenital central hypoventilation syndrome using DP.


Assuntos
Terapia por Estimulação Elétrica , Hipoventilação/congênito , Apneia do Sono Tipo Central , Adolescente , Artefatos , Criança , Humanos , Hipoventilação/complicações , Hipoventilação/diagnóstico , Hipoventilação/terapia , Masculino , Apneia do Sono Tipo Central/complicações , Apneia do Sono Tipo Central/diagnóstico , Apneia do Sono Tipo Central/terapia
17.
J Appl Physiol (1985) ; 129(6): 1441-1450, 2020 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-32969781

RESUMO

Elderly adults demonstrate increased propensity for breathing instability during sleep compared with younger adults, and this may contribute to increased prevalence of sleep-disordered breathing (SDB) in this population. Hence, in older adults with SDB, we examined whether addition of supplemental oxygen (O2) will stabilize breathing during sleep and alleviate SDB. We hypothesized that exposure to supplemental O2 during non-rapid eye movement (NREM) sleep will stabilize breathing and will alleviate SDB by reducing ventilatory chemoresponsiveness and by widening the carbon dioxide (CO2) reserve. We studied 10 older adults with mild-to-moderate SDB who were randomized to undergo noninvasive bilevel mechanical ventilation with exposure to room air or supplemental O2 (Oxy) to determine the CO2 reserve, apneic threshold (AT), and controller and plant gains. Supplemental O2 was introduced during sleep to achieve a steady-state O2 saturation ≥95% and fraction of inspired O2 at 40%-50%. The CO2 reserve increased significantly during Oxy versus room air (-4.2 ± 0.5 mmHg vs. -3.2 ± 0.5 mmHg, P = 0.03). Compared with room air, Oxy was associated with a significant decline in the controller gain (1.9 ± 0.4 L/min/mmHg vs. 2.5 ± 0.5 L/min/mmHg, P = 0.04), with reductions in the apnea-hypopnea index (11.8 ± 2.0/h vs. 24.4 ± 5.6/h, P = 0.006) and central apnea-hypopnea index (1.7 ± 0.6/h vs. 6.9 ± 3.9/h, P = 0.03). The AT and plant gain were unchanged. Thus, a reduced slope of CO2 response resulted in an increased CO2 reserve. In conclusion, supplemental O2 reduced SDB in older adults during NREM sleep via reduction in chemoresponsiveness and central respiratory events.NEW & NOTEWORTHY This study demonstrates for the first time in elderly adults without heart disease that intervention with supplemental oxygen in the clinical range will ameliorate central apneas and hypopneas by decreasing the propensity to central apnea through decreased chemoreflex sensitivity, even in the absence of a reduction in the plant gain. Thus, the study provides physiological evidence for use of supplemental oxygen as therapy for mild-to-moderate SDB in this vulnerable population.


Assuntos
Síndromes da Apneia do Sono , Apneia do Sono Tipo Central , Idoso , Humanos , Oxigênio , Respiração , Sono , Síndromes da Apneia do Sono/terapia , Apneia do Sono Tipo Central/terapia
18.
J Clin Sleep Med ; 16(11): 1891-1900, 2020 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-32741443

RESUMO

STUDY OBJECTIVES: Congenital central hypoventilation syndrome (CCHS) is caused by the paired-like homeobox 2B (PHOX2B) mutation and predominantly diagnosed during the neonatal period. Although late-onset CCHS and PHOX2B mutation carriers have been reported, the features of these disease states in adults remain uncertain. This study aimed to identify the characteristics of adult-onset CCHS and PHOX2B-mutation carriers in adult. METHODS: We mainly searched the PubMed/Medline and Cochrane Databases and classified our target patients into 2 groups: group A, symptomatically diagnosed with late-onset CCHS in adulthood; group B, adult PHOX2B-mutation carriers. Then, clinical characteristics, including the onset, treatment, long-term course, and pattern of the PHOX2B mutation in both groups were analyzed. Additionally, a new adult-case of late-onset CCHS was added to the analysis. RESULTS: Group A was comprised of 12 patients. The onset triggers of illness included a history of respiratory compromise following general anesthesia and respiratory tract infections. All patients in group A had 20/25 polyalanine repeat mutations and required some chronic ventilatory support at least during sleep, including portable positive pressure ventilator via tracheostomy or noninvasive positive pressure ventilation. In these patients with ventilatory support during sleep, sudden death or poor prognosis was not reported. Group B was comprised of 33 adults from 24 families with PHOX2B mutations. Nine patients in group B were confirmed with the diagnosis of CCHS. Although polyalanine repeat mutations 20/25 represented the most common gene mutation, diverse mutations, including mosaicism, were observed. Hypoventilation of several cases in group B were underdiagnosed by overnight polysomnography without monitoring for CO2. CONCLUSION: Alveolar hypoventilation with unknown origin can be caused by the PHOX2B mutation even in adult cases. Both the identification of the PHOX2B mutation and the incorporation of capnography in polysomnography are important for adult cases with unexplained alveolar hypoventilation or asymptomatic mutation carriers.


Assuntos
Genes Homeobox , Apneia do Sono Tipo Central , Adulto , Proteínas de Homeodomínio/genética , Humanos , Hipoventilação/congênito , Hipoventilação/genética , Recém-Nascido , Mutação/genética , Apneia do Sono Tipo Central/genética , Apneia do Sono Tipo Central/terapia
19.
Curr Heart Fail Rep ; 17(5): 277-287, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32803641

RESUMO

PURPOSE OF REVIEW: Central sleep apnea occurs in up to 50% of heart failure patients and worsens outcomes. Established therapies are limited by minimal supporting evidence, poor patient adherence, and potentially adverse cardiovascular effects. However, transvenous phrenic nerve stimulation, by contracting the diaphragm, restores normal breathing throughout sleep and has been shown to be safe and effective. This review discusses the mechanisms, screening, diagnosis, and therapeutic approaches to CSA in patients with HF. RECENT FINDINGS: In a prospective, multicenter randomized Pivotal Trial (NCT01816776) of transvenous phrenic nerve stimulation with the remede System, significantly more treated patients had a ≥ 50% reduction in apnea-hypopnea index compared with controls, with a 41 percentage point difference between group difference at 6 months (p < 0.0001). All hierarchically tested sleep, quality of life, and daytime sleepiness endpoints were significantly improved in treated patients. Freedom from serious related adverse events at 12 months was 91%. Benefits are sustained to 36 months. Transvenous phrenic nerve stimulation improves quality of life in patients with heart failure and central sleep apnea. Controlled trials evaluating the impact of this therapy on mortality/heart failure hospitalizations and "real world" experience are needed to confirm safety and effectiveness.


Assuntos
Terapia por Estimulação Elétrica/métodos , Insuficiência Cardíaca/complicações , Programas de Rastreamento/métodos , Apneia do Sono Tipo Central/diagnóstico , Sono/fisiologia , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/terapia , Humanos , Polissonografia , Apneia do Sono Tipo Central/etiologia , Apneia do Sono Tipo Central/terapia
20.
J Anesth ; 34(6): 841-848, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32696093

RESUMO

PURPOSE: Treatment-emergent central sleep apnea (TECSA) is a central sleep-related breathing disorder, characterized by either the persistence or emergence of central sleep apnea during the initiation of positive airway pressure therapy for obstructive sleep apnea. The purpose of this study was to review the perioperative course of patients diagnosed with TECSA. METHODS: We reviewed medical records of patients with TECSA who had a procedure or surgery with general anesthesia between January 1, 2009 and May 1, 2018. We describe postoperative outcomes including respiratory complications, unplanned intensive care unit (ICU) admissions, and other postoperative outcomes. RESULTS: We identified 150 (116 male, 34 female) patients with TECSA. Of these, 39 (26%) had their anesthesia recovery associated with moderate to profound sedation, 22 (14.7%) required unplanned transfer to ICU (8 for hypoxemia). Compared to patients without ICU admissions, patients with unplanned ICU admissions had higher rates of cardiovascular disease, Charlson comorbid scores, and perioperative benzodiazepines. Within the first 30 postoperative days there were 23 (16%) hospital re-admissions, and 7 (4.6%) deaths. CONCLUSION: Patients with TECSA have high rates of postoperative complications, characterized by an increased rate of unplanned intensive care admissions and both high 30-day readmission and mortality rates. When dealing with these patients perioperative physicians should implement an increased level of respiratory monitoring, and early postoperative use of their home prescribed non-invasive ventilation devices.


Assuntos
Anestesia , Apneia do Sono Tipo Central , Apneia Obstrutiva do Sono , Feminino , Humanos , Masculino , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/terapia , Período Pós-Operatório , Apneia do Sono Tipo Central/epidemiologia , Apneia do Sono Tipo Central/terapia , Apneia Obstrutiva do Sono/terapia
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