Familial Primary Pulmonary Hypertension

Langleben, David

doi:10.1378/chest.105.2_supplement.13s

Cited by 22 publications

(5 citation statements)

References 38 publications

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“…Most cases are sporadic, but 6% are familial 45 (I know of 10 affected families in the UK.) The disease is inherited in an autosomal dominant manner, with incomplete penetrance 5…”

mentioning

confidence: 99%

Primary pulmonary hypertension in childhood

Haworth

1998

Archives of Disease in Childhood

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“…Most cases are sporadic, but 6% are familial 45 (I know of 10 affected families in the UK.) The disease is inherited in an autosomal dominant manner, with incomplete penetrance 5…”

mentioning

confidence: 99%

Primary pulmonary hypertension in childhood

Haworth

1998

Archives of Disease in Childhood

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“…Variable susceptibility to development of plexogenic pulmonary arteriopathy may be genetic. In familial primary pulmonary hypertension successive generations may manifest the disease at earlier ages due to genetic anticipation,14 and a genetic locus on chromosome 2 has recently been described 1516 Similarly, secondary pulmonary hypertension and plexogenic pulmonary arteriopathy from HIV infection or anorexigen intake develops in only a few patients, which suggests variable susceptibility in the face of a provoking factor 3…”

Section: Discussionmentioning

confidence: 99%

Mitral stenosis obscuring the diagnosis of plexogenic pulmonary arteriopathy and familial pulmonary hypertension

Langleben

Lamoureux²,

Marcotte³

et al. 2000

Thorax

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A patient who died after surgery for critical mitral stenosis was found to have underlying unrecognised plexogenic pulmonary arteriopathy and familial pulmonary hypertension. The importance of recognising familial pulmonary hypertension is discussed, together with the contribution of genetic and other risk factors to plexogenic pulmonary arteriopathy. (Thorax 2000;55:247-248) Keywords: plexogenic pulmonary arteriopathy; mitral stenosis; familial pulmonary hypertension; primary pulmonary hypertension Plexogenic pulmonary arteriopathy with the formation of plexiform lesions is common in primary pulmonary hypertension and secondary pulmonary hypertension resulting from left-to-right intracardiac shunts, HIV disease, and anorexigen use.

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“…The disease is inherited as an autosomal dominant, with the age of onset becoming younger in each succeeding generation, an inheritance pattern known as genetic anticipation [10]. The lifetime penetrance is only 10%–20%, even if the gene is present, a trait known as incomplete penetrance [7, 11]. The gene linked to familial PPH has been located on chromosome 2q31‐32 [12] and recently identified as a mutation BMPR2 gene [13].…”

Section: Epidemiologymentioning

confidence: 99%