scholarly journals Towards a molecular classification of pulmonary arterial hypertension

2016 ◽  
Vol 48 (4) ◽  
pp. 987-989 ◽  
Author(s):  
Stefan Gräf ◽  
Nicholas W. Morrell
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Molecular Classification ◽  
Pulmonary Arterial

scholarly journals Genetics and genomics of pulmonary arterial hypertension

2019 ◽  
Vol 53 (1) ◽  
pp. 1801899 ◽  
Author(s):  
Nicholas W. Morrell ◽  
Micheala A. Aldred ◽  
Wendy K. Chung ◽  
C. Gregory Elliott ◽  
William C. Nichols ◽  
...  
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Genetic Diagnosis ◽  
Molecular Classification ◽  
Incomplete Penetrance ◽  
Therapeutic Approaches ◽  
Genomic Studies ◽  
Pulmonary Arterial ◽  
The Impact

Since 2000 there have been major advances in our understanding of the genetic and genomics of pulmonary arterial hypertension (PAH), although there remains much to discover. Based on existing knowledge, around 25–30% of patients diagnosed with idiopathic PAH have an underlying Mendelian genetic cause for their condition and should be classified as heritable PAH (HPAH). Here, we summarise the known genetic and genomic drivers of PAH, the insights these provide into pathobiology, and the opportunities afforded for development of novel therapeutic approaches. In addition, factors determining the incomplete penetrance observed in HPAH are discussed. The currently available approaches to genetic testing and counselling, and the impact of a genetic diagnosis on clinical management of the patient with PAH, are presented. Advances in DNA sequencing technology are rapidly expanding our ability to undertake genomic studies at scale in large cohorts. In the future, such studies will provide a more complete picture of the genetic contribution to PAH and, potentially, a molecular classification of this disease.

scholarly journals Demographic and clinical differences between idiopathic and scleroderma-related pulmonary arterial hypertension: Russian National Registry analysis

2016 ◽  
Vol 13 (2) ◽  
pp. 65-72
Author(s):  
N N Yudkina ◽  
E G Valeeva ◽  
I N Taran ◽  
E V Nikolaeva ◽  
V M Paramonov ◽  
...  
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
National Registry ◽  
Functional Class ◽  
Current Therapy ◽  
Group I ◽  
Pulmonary Arterial ◽  
The Moment ◽  
Registry Analysis

Pulmonary arterial hypertension associated with systemic sclerosis (SSc-PAH) and idiopathic pulmonary arterial hypertension (IPAH) belong to group I in the clinical classification of PH, but there is evidence for significant differences in their survival due to current therapy. Objective: the objective of this report is to compare pts with (SSc-PAH) and (IPAH) based on data of Russian National Registry. Patients and methods: in the study we included 52 pts with IPAH and 50 with SSc-PAH. There were no differences in functional class (FC). Diagnosis was based on RHC. Results. At the moment of diagnosis average age of patients with SSc-PAH was 15 year higher (p

scholarly journals PULMONARY HYPERTENSION STILL AN ‘ORPHAN LUNG DISEASE’ IN PAKISTAN

2021 ◽  
Vol 54 (1) ◽  
Author(s):  
Faisal Asad
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Right Heart Catheterization ◽  
Targeted Treatment ◽  
Heart Catheterization ◽  
Right Heart ◽  
Pulmonary Arterial ◽  
Group 1

In our country when it comes to diagnosis and treatment of Pulmonary Hypertension (PH) especially Pulmonary Arterial Hypertension (PAH), it seems that it is still an Orphan Lung disease. Whether it is data about its prevalence in our country, available diagnostic services or treatment options, one may easily feel the scarcity in all mentioned areas. Most current classification of PH, categorizes it into 5 groups.1 However this categorization requires availability of diagnostic tools especially right heart catheterization data to classify and know the severity of PH and to offer targeted treatment to patients who belong to group 1 PH i.e. Pulmonary Arterial Hypertension (PAH). Studies done about PH prevalence in Pakistan have mainly focused on data in selected patients group e.g. in patients with Chronic Obstructive Pulmonary Diseases (COPD) or Systemic Lupus Erythematosus (SLE).2,3 All of these studies relied on diagnosis without using the diagnostic bench mark i.e. Right heart catheterization. Moreover, effects of targeted treatment for PAH have also been studied only in selected group of patients e.g. COPD.4,5 While above work by the learned colleagues has to be appreciated, it emphasizes the need to, Spread the awareness about PH more so to reduce inadvertent use of targeted treatment which may prove detrimental outside group 1 PH and should only be considered at specialized centers. Develop specialized centers with required diagnostic services especially Lung functional and anatomical evaluation and Right heart catheterization. Establish PH registries (at least one in each province) which can play a vital role to collect data and ensure effective evidence based patient management. This may be an uphill task however the right direction to move forward.   REFERENCES Simonneau G, Montani D, David SC, Christopher PD, Michael AG, Michael K, at el. Paul G. Haemodynamic definitions and updated clinical classification of pulmonary hypertension. Eur Respir J. 2019;53(1):1801913. Amir S, Azmat A, Raza U, Hamid N, Zafar I, Shahida N, at el. Frequency of Pulmonary Hypertension in COPD patients. Pak J Chest Med. 2017;23(4):144-50. Sadia A, Aflak R, Tafazzul H, Ahmed A. Frequency and predictors of Pulmonary Hypertension in patients with SLE. Pak J Med Sci. 2019;35(1):86-9. Nasir H, Faisal F, Kausar R, Saadia A, Anjum N, Shafi K, at el. Efficacy of bosentan in the treatment of pulmonary hypertension; a prospective study focusing on safety and efficacy in patients with COPD. J Lung Pulm Respir Res. 2018;5(2):67-72. Sharieff S. Effect of sildenafil in primary pulmonary hypertension. Pak J Med Sci. 2007;23(2):264.

scholarly journals Combination therapy with pulmonary arterial hypertension targeted drugs and immunosuppression can be a useful strategy for sarcoidosis-associated pulmonary hypertension: a case report

2020 ◽  
Author(s):  
Keiko Sumimoto ◽  
Yu Taniguchi ◽  
Noriaki Emoto ◽  
Ken-Ichi Hirata
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Functional Class ◽  
Targeted Drugs ◽  
Appropriate Treatment ◽  
Pulmonary Arterial ◽  
Group 5 ◽  
Underlying Mechanisms

Abstract Background Pulmonary hypertension (PH) is one of the significant complications of sarcoidosis. In the clinical classification of PH proposed in the recent world symposium of PH 2018, sarcoidosis-associated PH is classified in Group 5. The mechanisms of sarcoidosis-associated PH are very heterogeneous. There is no evidence of effective treatment for this condition. Case summary We report a case of a 46-year-old female who developed severe pulmonary hypertension due to sarcoidosis. Her haemodynamics, exercise capacity, and functional class remarkably improved after the treatment with pulmonary arterial hypertension (PAH) targeted drugs including macitentan and tadalafil and secondary immunosuppressive therapy with corticosteroids. Discussion This case emphasizes the importance of considering the underlying mechanisms of sarcoidosis-associated PH in order to choose appropriate treatment.

Pulmonary arterial hypertension

2020 ◽  
pp. 355-362
Author(s):  
Perry Elliott ◽  
Pier D. Lambiase ◽  
Dhavendra Kumar
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Clinical Features ◽  
Genetic Mutations ◽  
Clinical Classification ◽  
Pulmonary Arterial

This chapter covers pulmonary hypertension (PH), including its definitions and classifications. Pulmonary arterial hypertension (PAH) is a pre-capillary form of PH, and its clinical features and signs are described. The 2019 updated clinical classification of PH is included, along with hereditable PAH, associated genetic mutations, and clinical screenings.

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