[The clinical characteristics of 5 patients with inherited hypertrophic cardiomyopathy].

To explore the clinical characteristics of patients with inherited hypertrophic cardiomyopathy.
The clinical characteristics, electrocardiogram, serum chemistry and diagnostic methods were retrospectively investigated in 5 patients with inherited hypertrophic cardiomyopathy.
The electrocardiograms of all patients were abnormal, with prominent left ventricular voltage and ST-T changes. One male patient with clinicopathological features of early onset, muscle weakness, ventricular preexcitation, elevations of two serum proteins and intracytoplasmic vacuoles containing autophagic material and glycogen in biceps brachial muscle cells was diagnosed Danon's disease. Mitochondrial cardiomyopathy was diagnosed in one male patient with early onset, short PR interval and biopsy findings of ragged-red fibers in biceps brachial muscle. Three patients were diagnosed as Fabry's disease with clinical characteristics including pain and acroparesthesias, angiokeratoma and decrease of alpha-galactosidase A activity.
Some of the rare inherited hypertrophic cardiomyopathy might easily be clinically misdiagnosed as hypertrophic cardiomyopathy, systemic and careful case history inquiring and specific relevant examinations would help to make the right diagnosis in these patients.
AuthorsJi-qiang He, Zhi-hong Han, Xue-jun Ren, Yue-chun Gao, Xiao-ling Zhang, Teng-yong Jiang
JournalZhonghua xin xue guan bing za zhi (Zhonghua Xin Xue Guan Bing Za Zhi) Vol. 37 Issue 4 Pg. 320-3 (Apr 2009) ISSN: 0253-3758 [Print] China
PMID19791467 (Publication Type: Case Reports, English Abstract, Journal Article)
  • Adolescent
  • Adult
  • Cardiomyopathy, Hypertrophic, Familial (diagnosis, genetics)
  • Diagnosis, Differential
  • Female
  • Humans
  • Male
  • Middle Aged
  • Young Adult

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