51 How do I investigate the relative of a patient
with hypertrophic cardiomyopathy? How should
they be followed up?
Niall G Mahon and W McKenna
Diagnostic criteria for the diagnosis of hypertrophic cardio-
myopathy in first degree relatives have been proposed as shown
in Table 51.1.
TTaabbllee 5511 .. 11 DDiiaaggnnoossttiicc ccrriitteerriiaa ffoorr tthhee ddiiaaggnnoossiiss ooff hhyyppeerrttrroopphhiicc
ccaarrddiioommyyooppaatthhyy iinn ffiirrsstt ddeeggrreeee rreellaattiivveess
MMaajjoorr MMiinnoorr
EEcchhooccaarrddiiooggrraapphhyy
Left ventricular wall thickness Left ventricular wall thickness of
13mm in the anterior septum 12mm in the anterior septum or
or 15mm in the posterior posterior wall or of 14mm in the
septum or free wall posterior septum or free wall
Severe systolic anterior Moderate SAM (no leaflet-septal
movement of the mitral valve contact)
leaflets (SAM) (causing septal
leaflet contact) Redundant MV leaflets
EElleeccttrrooccaarrddiiooggrraapphhyy
LVH + repolarisation changes Complete BBB or minor
interventricular conduction defect
in LV leads
T wave inversion in leads I and Minor repolarisation changes in
aVL (3mm) (with QRS-T wave LV leads
axis difference 30°), V3-V6
(3mm) or II and III and
aVF(5mm)
Abnormal Q waves (>40ms or Deep S in V2 (>25mm)
25% R wave) in at least 2 leads
from II, III, aVF (in the absence Unexplained syncope, chest pain
of left anterior hemiblock), dyspnoea
V1-V4; or I, aVL, V5-V6
SSoouurrcceeMcKenna WJ, Spirito P, Desnos M et al. Experience from clinical genetics
in hypertrophic cardiomyopathy. Proposal for new diagnostic criteria in adult
members of affected families. Heart1997; 7777 : 130–2.