1. Tricuspid valve calcification in familial pulmonary alveolar microlithiasis: A case report
- Author
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Sukiana Rawashdeh, Shaher M Samrah, Basheer Khassawneh, and Hanouf Shraideh
- Subjects
Aortic valve ,medicine.medical_specialty ,Case Report ,Physical examination ,Tricuspid calcification ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,medicine ,Tricuspid valve ,Pulmonary calcifications ,medicine.diagnostic_test ,business.industry ,General Medicine ,medicine.disease ,Penetrance ,medicine.anatomical_structure ,Respiratory failure ,Pulmonary alveolar microlithiasis ,030220 oncology & carcinogenesis ,Cardiology ,030211 gastroenterology & hepatology ,Surgery ,Crackles ,medicine.symptom ,SLC34A2 ,business ,Calcification - Abstract
Background Pulmonary Alveolar Microlithiasis (PAM) is an uncommon, gradually progressive and eventually fatal hereditary disease that affects young population. Familial cases account for up to 50% of reported cases. There are few described cases of extrapulmonary manifestations of PAM and rare reports of cardiac involvement. Case report A 45-year-old male patient presented to our center with progressive shortness of breath and dry cough. On physical examination, he was tachypneic and chest examination revealed diminished breath sounds with bilateral early inspiratory crackles. Further workup revealed the diagnosis of PAM. Echocardiography revealed calcifications covering the tricuspid valve with elevated right ventricular systolic pressure. He reported having two sisters with similar illnesses and chest radiographic abnormalities, one died at the age of 38 years from respiratory failure and the other is 42-year-old and still alive and was diagnosed with PAM. Another 35 member of his family were diagnosed with PAM. Unfortunately, few days after discharge, he arrested at home. Conclusions Recently, type-II sodium/phosphate co-transporter has been identified in a human aortic valve. Studies have suggested penetrance of mutations of SLC34A2 gene might explain such variability of pulmonary and extrapulmonary involvement. Our case reports a familial cluster of PAM, and the first case of concomitant tricuspid calcification. This finding might be a useful in the investigation for a future genetic targeted therapy., Highlights • PAM is a fatal hereditary disease that affects young population. • There are few described cases of extrapulmonary manifestations of PAM. • Mutations of SLC34A2 gene might explain variability of extrapulmonary involvement.
- Published
- 2020